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Gene: Pkdcc MGI:2147077

Gene Summary

Name:

protein kinase domain containing, cytoplasmic

Synonyms:

Adtk1, ESTM17, MAd1, Vlk

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage
abnormal heart morphology	Pkdcc^em1(IMPC)Mbp	HOM	E9.5
abnormal hindbrain development	Pkdcc^em1(IMPC)Mbp	HOM	E9.5
abnormal kidney morphology	Pkdcc^em1(IMPC)Mbp	HET	Early adult
embryonic growth retardation	Pkdcc^em1(IMPC)Mbp	HOM	E15.5
abnormal head shape	Pkdcc^em1(IMPC)Mbp	HOM	E15.5
abnormal head shape	Pkdcc^em1(IMPC)Mbp	HOM	E18.5
edema	Pkdcc^em1(IMPC)Mbp	HOM	E15.5
abnormal neural tube morphology	Pkdcc^em1(IMPC)Mbp	HOM	E9.5
small liver	Pkdcc^em1(IMPC)Mbp	HET	Early adult
small kidney	Pkdcc^em1(IMPC)Mbp	HET	Early adult
abnormal liver morphology	Pkdcc^em1(IMPC)Mbp	HET	Early adult
abnormal facial morphology	Pkdcc^em1(IMPC)Mbp	HOM	E18.5
preweaning lethality, complete penetrance	Pkdcc^em1(IMPC)Mbp	HOM	Early adult
abnormal pericardium morphology	Pkdcc^em1(IMPC)Mbp	HOM	E9.5
abnormal craniofacial morphology	Pkdcc^em1(IMPC)Mbp	HOM	E15.5
abnormal facial morphology	Pkdcc^em1(IMPC)Mbp	HOM	E15.5

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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X-ray

XRay Images Whole Body Dorso Ventral

120 Images

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Gross Morphology Embryo E9.5

Images

18 Images

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Gross Morphology Embryo E14.5-E15.5

Images

23 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E18.5

Images

6 Images

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Human diseases caused by Pkdcc mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Pkdcc (1 diseases)
Human diseases predicted to be associated with Pkdcc (1826 diseases)

The table below shows human diseases associated to Pkdcc by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Rhizomelic Limb Shortening With Dysmorphic Features		Plagiocephaly, Patent foramen ovale, Rhizomelia	OMIM:618821

The table below shows human diseases predicted to be associated to Pkdcc by phenotypic similarity.

Disease	Matching phenotypes	Source
Ulnar Hypoplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis...	OMIM:191440
Osseous Heteroplasia, Progressive	Ectopic ossification in muscle tissue, Ankylosis, Limb undergrowth	OMIM:166350
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol...	ORPHA:93405
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M...	OMIM:249700
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh...	OMIM:118651
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra...	OMIM:112910
Arms, Malformation Of	Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis	OMIM:107900
Ulnar Hypoplasia With Mental Retardation	Talipes equinovarus, Limited elbow movement, Limitation of knee mobility, Bilateral ulnar hypoplasia	OMIM:276821
Brachydactyly Type A1	Hypoplasia of the ulna, Cone-shaped epiphysis, Clinodactyly of the 5th finger, Distal symphalangi...	ORPHA:93388
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,...	OMIM:127300
Atelosteogenesis, Type Iii	Widened distal phalanges, Tombstone-shaped proximal phalanges, Cervical segmentation defect, Sand...	OMIM:108721
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Talipes, Micromelia, Metatarsus adductus, Broad...	ORPHA:2249
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse...	ORPHA:1972
Mental Retardation Syndrome, Mietens-Weber Type	Dislocated radial head, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial ep...	OMIM:249600
Ulnar Hypoplasia-Split Foot Syndrome	Split foot, Split hand, Aplasia/Hypoplasia of the radius, Hypoplasia of the ulna	ORPHA:1122
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Gollop-Wolfgang Complex	Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ...	ORPHA:1986
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones...	ORPHA:2634
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli...	ORPHA:240
Otospondylomegaepiphyseal Dysplasia	Sandal gap, Tibial bowing, Glossoptosis, Short metacarpal, Abnormally ossified vertebrae, Bifid u...	ORPHA:1427
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormality of the hand, Abnormal foot morpholo...	ORPHA:75508
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl...	ORPHA:2098
Spondyloepimetaphyseal Dysplasia, Missouri Type	Small epiphyses, Flared metaphysis, Pear-shaped vertebrae, Knee osteoarthritis, Femoral bowing, T...	ORPHA:93356
Metaphyseal Anadysplasia	Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Abnormality of the lower li...	ORPHA:1040
Weismann-Netter Syndrome	Fibular bowing, Anterior tibial bowing, Scoliosis, Calvarial hyperostosis, Horizontal sacrum, Kyp...	OMIM:112350
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo...	ORPHA:3344
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor...	OMIM:619598
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Platyspondyly, Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cu...	OMIM:602111
Rhizomelic Chondrodysplasia Punctata, Type 3	Short femur, Short humerus, Rhizomelia, Epiphyseal stippling	OMIM:600121
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Abnormality of the hand, Anterior ...	OMIM:605274
Femur-Fibula-Ulna Complex	Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh...	ORPHA:2019
Acheiropody	Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to...	OMIM:200500
Hhhh Syndrome	Hemiatrophy	OMIM:306960
Shox-Related Short Stature	Ulnar radial head dislocation, Genu valgum, Scoliosis, Tibial bowing, High palate, Forearm underg...	ORPHA:314795
Metaphyseal Anadysplasia 2	Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg...	OMIM:613073
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o...	OMIM:227270
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Broad palm, S...	OMIM:611263
Kniest Dysplasia	Tibial bowing, Hypoplastic pelvis, Dumbbell-shaped long bone, Dumbbell-shaped femur, Genu varum, ...	OMIM:156550
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Fibular aplasia, Abnormality of the hand, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda...	OMIM:246570
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Delayed pubic bone ossific...	ORPHA:1856
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ...	ORPHA:2141
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Talipes equinovarus, Brachydactyly, Short 5th finger, Aplasia/Hypoplasia of the fibula, Short foo...	ORPHA:52056
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,...	OMIM:601438
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone...	ORPHA:3035
Atelosteogenesis, Type Ii	Sandal gap, Bifid humerus, Short greater sciatic notch, Flat acetabular roof, Death in infancy, D...	OMIM:256050
Osteogenesis Imperfecta, Type Iii	Slender long bone, Wide anterior fontanel, Thin ribs, Tibial bowing, Scoliosis, Kyphosis, Multipl...	OMIM:259420
Osteogenesis Imperfecta, Type X	Tibial bowing, Dentinogenesis imperfecta, Joint hypermobility, Broad ribs, Fibular bowing, Rhizom...	OMIM:613848
Acrodysostosis	Abnormal femur morphology, Short metacarpal, Cone-shaped epiphysis, Genu varum, Coxa valga, Hypop...	ORPHA:950
Fibular Hemimelia	Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog...	ORPHA:93323
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Glossoptosis, Abnormality of the ...	ORPHA:3104
Pseudoachondroplasia	Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Increased laxity of...	ORPHA:750
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ...	ORPHA:3269
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Metaphyseal Chondrodysplasia, Schmid Type	Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia...	OMIM:156500
Mesomelic Limb Shortening And Bowing	Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing...	OMIM:249710
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Multiple Epiphyseal Dysplasia, Lowry Type	Fibular hypoplasia, Genu valgum, Cleft hard palate, Fixed elbow flexion, Small epiphyses, Delayed...	ORPHA:166016
Hypophosphatemic Rickets, X-Linked Dominant	Enamel hypomineralization, Rickets, Genu valgum, Fibular bowing, Hypophosphatemic rickets, Cupped...	OMIM:307800
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Van Bogaert-Hozay Syndrome	Micrognathia, Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand	OMIM:277150
Atelosteogenesis, Type I	Tibial bowing, Clubbing, Short metacarpal, Short humerus, Thoracic platyspondyly, Fibular aplasia...	OMIM:108720
Geroderma Osteodysplasticum	Kyphoscoliosis, Femoral bowing, Tibial bowing, Biconcave vertebral bodies, Abnormality of the den...	OMIM:231070
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Ulnar deviated club hands, Genu valgum, Arthralgia of ...	ORPHA:166002
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short...	OMIM:612447
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim...	OMIM:600785
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Ulnar Hemimelia	Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim...	ORPHA:93320
Rhizomelic Dysplasia, Patterson-Lowry Type	Short nose, Genu valgum, Rhizomelia, Wide nose, Mandibular prognathia, Deformed humeral heads, Sh...	ORPHA:2831
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Narrow greater sciatic notch, Hypoplasia of the ulna, Rhizomelia, Flared metaphysis, Dislocated r...	OMIM:602471
Perching Syndrome	Scoliosis, High palate, Camptodactyly, Joint contracture, Dysphagia, Cyanosis	OMIM:617055
Eiken Syndrome	Abnormal bone ossification, High iliac wing, Absence of the sacrum, Metaphyseal irregularity, Fib...	ORPHA:79106
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Thin vermilion border, Short philtrum, Flared metaphysis, Premature loss of teeth, Short middle p...	OMIM:156510
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal lung lobation, Retrognathia, Abnormal metaphysis morphology, Thin vermilion border, Abno...	ORPHA:2631
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Hypoplastic ...	ORPHA:93315
Acheiropodia	Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,...	ORPHA:931
Kyphomelic Dysplasia	Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b...	OMIM:211350
Spondyloperipheral Dysplasia	Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Short distal phala...	OMIM:271700
Langer Mesomelic Dysplasia	Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, Bowing of t...	ORPHA:2632
Osteogenesis Imperfecta, Type Viii	Osteopenia, Platyspondyly, Vertebral compression fracture, Slender long bone, Femoral retroversio...	OMIM:610915
Metaphyseal Chondrodysplasia, Spahr Type	Abnormal metaphysis morphology, Reduced bone mineral density, Scoliosis, Hyperlordosis, Bowing of...	ORPHA:2501
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Wide nose, Thick nasal alae, Everted lower lip vermilion, Micrognathia, D...	OMIM:615162
Omodysplasia 2	Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r...	OMIM:164745
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Wide nose, Thick nasal alae, Everted lower lip vermilion, Micrognathia, M...	ORPHA:357175
Autosomal Dominant Omodysplasia	Short nose, Rhizomelia, Short palm, Micrognathia, Short humerus, Malar flattening, Long philtrum,...	ORPHA:93328
Microphthalmia With Limb Anomalies	Retrognathia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypo...	OMIM:206920
Rhizomelic Chondrodysplasia Punctata, Type 5	Swan neck-like deformities of the fingers, Metaphyseal cupping, Narrow iliac wing, Coxa vara, Irr...	OMIM:616716
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Fibular Aplasia-Complex Brachydactyly Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma...	ORPHA:2639
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Broad foot, Patellar ap...	OMIM:135750
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Hypoplasia of the ulna, Abnormal nostril morphology, Abnormality of the wrist, Radial club hand, ...	ORPHA:2878
Craniosynostosis-Mental Retardation-Clefting Syndrome	Craniosynostosis, Lower limb undergrowth, Forearm undergrowth	OMIM:218650
Microphthalmia With Limb Anomalies	Sandal gap, Abnormal form of the vertebral bodies, Tibial bowing, Short long bone, Death in infan...	ORPHA:1106
Heart-Hand Syndrome Type 2	Short 4th metacarpal, Abnormal palate morphology, Abnormal shoulder morphology, Abnormality of th...	ORPHA:1350
Spondylometaphyseal Dysplasia, Schmidt Type	Narrow greater sciatic notch, Kyphoscoliosis, Short long bone, Abnormality of the epiphysis of th...	ORPHA:93316
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Stillbirth, Abnormal hip bone morphology, Abnormal lung morphology, Upper limb phoco...	ORPHA:294975
Osteogenesis Imperfecta, Type Ii	Absent ossification of calvaria, Crumpled long bones, Recurrent fractures, Thin ribs, Tibial bowi...	OMIM:166210
Lethal Congenital Contracture Syndrome 3	Respiratory insufficiency, Multiple joint contractures, Neonatal death, Arthrogryposis multiplex ...	OMIM:611369
Campomelic Dysplasia	Fibular hypoplasia, 11 pairs of ribs, Poorly ossified cervical vertebrae, Tracheomalacia, Tracheo...	ORPHA:140
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Orofaciodigital Syndrome Type 10	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin...	ORPHA:2756
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Kyphoscoliosis, Short long bone, Hyperlordosis, Knee dislocation, Tooth agenesis, Joint hypermobi...	OMIM:618363
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Rhizomelia, Epiphyseal stippling, Anteverted nares, Stippled calcification proximal h...	OMIM:222765
Metatropic Dysplasia	Narrow greater sciatic notch, Relatively short spine, Short ribs, Long coccyx, Flat acetabular ro...	OMIM:156530
Boomerang Dysplasia	Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca...	ORPHA:1263
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Femoral bowing, Tibial bowing, Cupped ribs, Short long bone, Short ...	OMIM:608940
Mietens Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Clinodactyly of the...	ORPHA:2557
Tibial Torsion, Bilateral Medial	Scoliosis, Bowing of the legs, Tibial torsion	OMIM:188800
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Death in in...	OMIM:601559
Chondrodysplasia With Joint Dislocations, Gpapp Type	Limited elbow extension, Capitate-hamate fusion, Genu valgum, Intervertebral space narrowing, Irr...	OMIM:614078
Cenani-Lenz Syndrome	Oligodactyly, Hip dislocation, Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacar...	ORPHA:3258
Orofaciodigital Syndrome Viii	Polydactyly, High palate, Cleft palate, Syndactyly, Short tibia, Median cleft upper lip	OMIM:300484
Multiple Synostoses Syndrome 1	Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho...	OMIM:186500
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Short first metatarsal, Ulnar bowing, Epiphyseal stippling, Wide anterior...	OMIM:619135
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Carpal bone hypoplasia, Joint hypermobility, Dislocated radial head, Dela...	OMIM:618395
Radial Hemimelia	Abnormal thumb morphology, Abnormality of the trapezium, Aplasia of the 1st metacarpal, Abnormali...	ORPHA:93321
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Abnormal hand morphology, Cleft palate, Malar flattening, Short foot, Small hand	OMIM:300261
Pierre Robin Sequence With Facial And Digital Anomalies	Clinodactyly of the 5th finger, Easily subluxated first metacarpophalangeal joints, Glossoptosis,...	OMIM:311895
Ring Chromosome 4 Syndrome	Abnormality of the upper limb, Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the...	ORPHA:1447
W Syndrome	Hypoplasia of the ulna, Cubitus valgus, Broad uvula, Camptodactyly, Metatarsus adductus, Broad na...	ORPHA:2804
Weyers Ulnar Ray/Oligodactyly Syndrome	Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc...	OMIM:602418
Acrorenal Syndrome	Abnormal tibia morphology, Split hand, Micrognathia, Abnormal morphology of ulna, Cleft palate, A...	ORPHA:971
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Enlargement of the costochondral junction, Fibular bowing, Delayed eruption of teeth, Bu...	OMIM:264700
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Enlargement of the costochondral junction, Fibular bowing, Delayed epiphyseal ossificati...	OMIM:600081
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Abno...	OMIM:250460
Ulna Metaphyseal Dysplasia Syndrome	Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal hip bone morphology, Abnorma...	ORPHA:1837
Vitamin D-Dependent Rickets, Type 2A	Rickets, Fibular bowing, Delayed eruption of teeth, Bulging of the costochondral junction, Delaye...	OMIM:277440
Maxillonasal Dysplasia	Abnormal nostril morphology, Short nose, Mandibular prognathia, Open bite, Microdontia, Tooth age...	ORPHA:1248
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Short humerus, Abno...	ORPHA:2491
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Enamel hypoplasia, Micro...	OMIM:212780
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l...	ORPHA:2256
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Lethal Recessive Chondrodysplasia	Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth, Generalized...	ORPHA:1423
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormal hip bone morphology, Dental crowding, Tibial bowing, Microdontia, Broad thumb, Prominent...	ORPHA:251028
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ...	OMIM:119100
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly	OMIM:228250
Acromesomelic Dysplasia, Maroteaux Type	Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,...	ORPHA:40
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Retrognathia, Single transverse palmar crease, High palate, Micrognathia, Han...	OMIM:611890
Metaphyseal Dysplasia, Spahr Type	Genu valgum, Metaphyseal sclerosis, Short lower limbs, Metaphyseal widening, Metaphyseal dysplasi...	OMIM:250400
Ophthalmomandibulomelic Dysplasia	Ulnar deviated club hands, Abnormality of bone mineral density, Limitation of joint mobility, Syn...	ORPHA:2741
Metatropic Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal cortical bone morphology...	ORPHA:2635
Autosomal Recessive Distal Osteolysis Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Broad nasal tip, Short distal phalanx of...	ORPHA:2776
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Coxa vara, Limitation of joint mobility, Micromelia	ORPHA:168555
Fibrodysplasia Ossificans Progressiva	Abnormality of the first metatarsal bone, Widely spaced teeth, Clinodactyly of the 5th finger, Sh...	OMIM:135100
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal palate morphology, Abnormal shoulder morphology, Tooth agenesis, Micrognathia, Mesomelia...	ORPHA:1277
Odontochondrodysplasia 1	Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Delayed ossificati...	OMIM:184260
Fibular Aplasia-Ectrodactyly Syndrome	Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Cartilage-Hair Hypoplasia	Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal for...	ORPHA:175
Van Den Ende-Gupta Syndrome	Dislocated radial head, Dental crowding, Femoral bowing, Short ribs, Everted lower lip vermilion,...	OMIM:600920
Acro-Renal-Mandibular Syndrome	Abnormal lung lobation, Hypoplasia of the radius, Hypoplasia of the ulna, Orofacial cleft, Rudime...	ORPHA:958
Blount Disease	Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi...	ORPHA:2768
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Hypoplasia of the radius, Nonopposable triphalangeal thumb	OMIM:179250
Kyphomelic Dysplasia	Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Flat acetabular roof, Bowi...	ORPHA:1801
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Non-midline cleft of the upp...	ORPHA:246
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Abnormality of the humeroulnar joint...	ORPHA:1570
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ...	ORPHA:93351
Acrofacial Dysostosis Syndrome Of Rodriguez	Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Short philtrum, Wide anterior fontanel...	OMIM:201170
Campomelic Dysplasia	Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Trac...	OMIM:114290
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
Ivic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T...	OMIM:147750
Diastrophic Dysplasia	Kyphoscoliosis, Short finger, Genu valgum, Irregular epiphyses, Talipes equinovarus, Hitchhiker t...	OMIM:222600
Mesomelia-Synostoses Syndrome	Narrow foot, Carpometacarpal synostosis, Abnormal vertebral morphology, Short metatarsal, Metacar...	OMIM:600383
3M Syndrome	Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Clinodactyly of the 5...	ORPHA:2616
Greenberg Dysplasia	Abnormal bone ossification, Rhizomelia, Abnormal form of the vertebral bodies, Abnormal pelvis bo...	ORPHA:1426
Mueller-Weiss Syndrome	Equinovarus deformity, Fragmented, irregular epiphyses, Talipes calcaneovarus, Abnormality of the...	ORPHA:566943
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Enlargement of the costochondral junction, Fibular bowing, Del...	OMIM:241530
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Hypoplasia of the radius, Finger aplasia, Absent thumb, Radioulnar synost...	OMIM:614900
Mesomelic Dysplasia, Nievergelt Type	Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm...	ORPHA:2633
Ghosal Hematodiaphyseal Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t...	ORPHA:1802
Melnick-Needles Syndrome	Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Short humerus,...	OMIM:309350
Aase-Smith Syndrome	Abnormal hip bone morphology, Scoliosis, Slender finger, Joint stiffness, Camptodactyly of finger...	ORPHA:916
Premature Aging Syndrome, Penttinen Type	Retrognathia, Tibial bowing, Flexion contracture of finger, Cervical ribs, Short distal phalanx o...	OMIM:601812
Orofaciodigital Syndrome Iv	Short finger, Hamartoma of tongue, Tongue nodules, High palate, Foot polydactyly, Postaxial polyd...	OMIM:258860
Nager Syndrome	Hypoplasia of the radius, Abnormal palate morphology, Triphalangeal thumb, Aplasia/Hypoplasia of ...	ORPHA:245
Arthrogryposis, Distal, Type 1C	Rocker bottom foot, Retrognathia, Wrist flexion contracture, Bifid uvula, Adducted thumb, Scolios...	OMIM:619110
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/...	ORPHA:988
Bullous Dystrophy, Hereditary Macular Type	Short finger, Death in childhood, Tapered finger, Acrocyanosis	OMIM:302000
Hypochondroplasia	Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal form of the vertebral bodies,...	ORPHA:429
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Sclerotic vertebral endplates, Rickets of the lower l...	ORPHA:289176
Schneckenbecken Dysplasia	Stillbirth, Platyspondyly, Snail-like ilia, Short ribs, Flat acetabular roof, Short long bone, Du...	OMIM:269250
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Kyphoscoliosis, Multiple carpal ossification centers, Generalized bone demineralization, Dislocat...	OMIM:143095
Catel-Manzke Syndrome	Clinodactyly of the 5th finger, Scoliosis, Glossoptosis, Oral synechia, Radial deviation of the 2...	ORPHA:1388
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Lower-limb metaphyseal irregularity, Enlarged metaphyses, Scoliosis, Short long bone, Upper-limb ...	OMIM:618728
Brachyolmia Type 1, Hobaek Type	Short iliac bones, Osteopenia, Squared-off platyspondyly, Lumbar hypolordosis, Platyspondyly, Int...	OMIM:271530
Neuralgic Amyotrophy	Respiratory insufficiency, Narrow mouth, Scapular winging, Cleft palate, Bifid uvula, Syndactyly,...	ORPHA:2901
Odontochondrodysplasia	Abnormal metaphysis morphology, Retrognathia, Square pelvis bone, Platyspondyly, Delayed eruption...	ORPHA:166272
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad...	OMIM:164900
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Hypoplasia of the capital femoral epiphysis, Hand muscle atrophy, Ankle clonus, Joint hypermobili...	OMIM:600561
Lethal Osteosclerotic Bone Dysplasia	Retrognathia, Short nose, Gingival fibromatosis, Anteverted nares, Gingival overgrowth, Mandibula...	ORPHA:1832
Brachydactyly, Type A1, C	Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge...	OMIM:615072
Spondylometaphyseal Dysplasia, X-Linked	Short finger, Respiratory insufficiency, Hyperextensibility of the finger joints, Anteverted nare...	OMIM:313420
Familial Anetoderma	High, narrow palate, Abnormal tibia morphology, Irregular dentition, Lumbar hyperlordosis, Genera...	ORPHA:228277
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Fetal Akinesia Deformation Sequence 4	Rocker bottom foot, Retrognathia, 11 pairs of ribs, High palate, Camptodactyly, Kyphosis, Prenata...	OMIM:618393
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity...	ORPHA:93322
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, Me...	OMIM:617974
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ...	ORPHA:1275
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Retrognathia, Hypoplastic iliac wing, Tibial bowing, Microdontia, Short distal phalanx of finger,...	OMIM:210720
Temtamy Preaxial Brachydactyly Syndrome	Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Microd...	ORPHA:363417
Multiple Epiphyseal Dysplasia Type 1	Genu valgum, Arthralgia of the hip, Delayed epiphyseal ossification, Short long bone, Limitation ...	ORPHA:93308
Atelosteogenesis Type Iii	Short tubular bones of the hand, Absent radius, Patellar dislocation, Hip dislocation, Fibular ap...	ORPHA:56305
Multiple Synostoses Syndrome 3	Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,...	OMIM:612961
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp...	OMIM:268305
Spondyloepiphyseal Dysplasia, Stanescu Type	Kyphoscoliosis, Beaking of vertebral bodies, Internal tibial torsion, Stiff neck, Vertebral wedgi...	OMIM:616583
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory failure, Death in adolescence, Respiratory insufficiency due to muscle weakness, Flex...	OMIM:300717
Nievergelt Syndrome	Pes cavus, Tarsal synostosis, Genu valgum, Metatarsus adductus, Mesomelia, Radioulnar synostosis,...	OMIM:163400
Gnathodiaphyseal Dysplasia	Osteopenia, Broad jaw, Recurrent fractures, Scoliosis, Bowing of the long bones, Thickened cortex...	ORPHA:53697
Grant Syndrome	Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
Congenital Myopathy 14	Elbow flexion contracture, High palate, Death in infancy, Hip contracture, Respiratory insufficie...	OMIM:618414
Hyperekplexia 4	Adducted thumb, High palate, Camptodactyly, Flexion contracture, Distal arthrogryposis, Respirato...	OMIM:618011
Diastrophic Dysplasia	Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy...	ORPHA:628
Isolated Congenital Hypoglossia/Aglossia	Aplasia/Hypoplasia of fingers, Temporomandibular joint ankylosis, Aspiration pneumonia, Micrognat...	ORPHA:141152
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Retrognathia, Small epiphyses, Scoliosis, Short long bone, Glossoptosis, Knee dislocation, Lumbar...	OMIM:620269
Pierre Robin Syndrome And Oligodactyly	Micrognathia, Pierre-Robin sequence, Cleft palate, Finger aplasia	OMIM:172880
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d...	OMIM:166740
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing	OMIM:156232
Autosomal Recessive Omodysplasia	Abnormal metaphysis morphology, Short nose, Abnormal femur morphology, Rhizomelia, Anteverted nar...	ORPHA:93329
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Death in childhood, Clinodactyly of the 5th finger, Knee flexion contracture, Antever...	OMIM:616809
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o...	OMIM:300554
Jackson-Weiss Syndrome	Convex nasal ridge, Abnormal fibula morphology, Abnormal palate morphology, Short metatarsal, Man...	ORPHA:1540
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Congenital bilateral hip dislocation, Tibial bowing, Micrognathia, Limb under...	ORPHA:453510
Kdm5C-Related Syndromic X-Linked Intellectual Disability	High palate, Hypoplasia of the maxilla, Short palm, Clinodactyly, Camptodactyly of finger, Promin...	ORPHA:85279
Omodysplasia 1	Limited knee extension, Short humerus, Long philtrum, Fibular hypoplasia, Rhizomelia, Increased f...	OMIM:258315
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing...	OMIM:608728
Pyle Disease	Limited elbow extension, Genu valgum, Reduced bone mineral density, Delayed eruption of teeth, Ma...	OMIM:265900
Acromicric Dysplasia	Thick lower lip vermilion, Short long bone, Narrow mouth, Short metacarpal, Short foot, Short pal...	OMIM:102370
Mesomelic Dysplasia, Kantaputra Type	Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Talipes, Cubitus v...	ORPHA:1836
Chondrodysplasia, Blomstrand Type	Stillbirth, Abnormal vertebral morphology, Flared metaphysis, Generalized osteosclerosis, Short r...	OMIM:215045
Keipert Syndrome	Broad distal phalanx of finger, Clinodactyly of the 5th finger, Short hallux, Exaggerated cupid's...	ORPHA:2662
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Gastroesophageal reflux, Wide anterior fontanel, Tibial bowing, Femoral bowing, Kypho...	OMIM:616482
Distal Limb Deficiencies-Micrognathia Syndrome	Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o...	ORPHA:1307
Stickler Syndrome Type 1	Platyspondyly, Abnormal vertebral epiphysis morphology, Abnormal epiphysis morphology, Hypoplasia...	ORPHA:90653
Microcephaly-Micromelia Syndrome	Wide nose, Craniosynostosis, Oligodactyly, Narrow mouth, Forearm undergrowth, Micromelia, Humeror...	OMIM:251230
Spondyloepimetaphyseal Dysplasia, Shohat Type	Narrow greater sciatic notch, Short ribs, Metaphyseal irregularity, Joint hypermobility, Genu var...	OMIM:602557
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Restricted large joint movement, Abnormal vertebral morphology, Small epiphyses, Flared metaphysi...	ORPHA:93346
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of...	OMIM:609616
Microcephaly, Short Stature, And Limb Abnormalities	Hypoplasia of the radius, Clinodactyly of the 5th finger, Patellar hypoplasia, 11 pairs of ribs, ...	OMIM:617604
Frontonasal Dysplasia 1	Short columella, Joint contracture of the hand, Radial deviation of finger, Pectoral muscle hypop...	OMIM:136760
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon...	ORPHA:2790
Acromesomelic Dysplasia, Hunter-Thompson Type	Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Cu...	ORPHA:968
Robinow Syndrome, Autosomal Recessive 1	Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocate...	OMIM:268310
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Beaking of vertebral bodies, Death in childhood, Lumbar platyspondyly, Increased intervertebral s...	OMIM:618961
Thoracomelic Dysplasia	Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg...	ORPHA:1803
Aarskog-Scott Syndrome	Everted lower lip vermilion, Joint hypermobility, Long philtrum, Broad palm, Anteverted nares, Ab...	ORPHA:915
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Short long bone, Short ribs, Flat acetabular roof, Hypoplastic ischia, Dumbbell-shaped long bone,...	OMIM:151210
Thalidomide Embryopathy	Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han...	ORPHA:3312
Rhizomelic Syndrome, Urbach Type	Triphalangeal thumb, Rhizomelia, Abnormal form of the vertebral bodies, Wide anterior fontanel, H...	ORPHA:3098
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Congenital Disorder Of Glycosylation, Type Ig	Hypoplasia of the radius, Rhizomelia, Sandal gap, Short philtrum, Wide nose, Short ribs, Recurren...	OMIM:607143
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Conical tooth, Midgut malrotation, Choanal atre...	OMIM:263750
Arthrogryposis, Distal, Type 3	Kyphoscoliosis, Bifid uvula, Overlapping toe, Scoliosis, Ulnar deviation of the hand or of finger...	OMIM:114300
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Proximal placement of thumb, Esophageal atresia, Tracheoesophageal fistula, Anal atresia, Hand po...	OMIM:314390
Epiphyseal Dysplasia, Multiple, 7	Monkey wrench femoral neck, Vertebral wedging, Flat acetabular roof, Epiphyseal dysplasia, Hypopl...	OMIM:617719
Distal Duplication 5Q	Hypoplasia of the ulna, Hypoplasia of the radius, Thin vermilion border, Short nose, Narrow mouth...	ORPHA:96097
Orofaciodigital Syndrome Ix	High palate, Abnormality of the dentition, Camptodactyly, Hand polydactyly, Cleft palate, Toe syn...	OMIM:258865
Multiple Epiphyseal Dysplasia Type 4	Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bone morphol...	ORPHA:93307
Pseudoachondroplasia	Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi...	OMIM:177170
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Enlarged epiphyses, Epiphyseal dysplasia, Cleft palate, Pierre-Robin sequence, Malar flattening, ...	OMIM:184840
Caffey Disease	Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Periosteal thickening of lon...	OMIM:114000
Spondyloepiphyseal Dysplasia, Kimberley Type	Abnormal epiphysis morphology, Osteoarthritis, Micromelia	ORPHA:93283
Pontocerebellar Hypoplasia, Type 1C	Respiratory insufficiency, Respiratory failure, Joint contracture, Death in childhood	OMIM:616081
Craniofacial-Deafness-Hand Syndrome	Short nose, Abnormality of the wrist, Narrow mouth, Depressed nasal ridge, Hypoplasia of the maxi...	ORPHA:1529
Oncogenic Osteomalacia	Abnormal fibula morphology, Abnormal femur morphology, Abnormal vertebral morphology, Abnormal fo...	ORPHA:352540
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplasia of the radius, Short ribs, Hypoplastic ilia, Micromelia, Postaxial polydactyly, Pulmon...	OMIM:617895
Epiphyseal Dysplasia, Multiple, 1	Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific...	OMIM:132400
Congenital Myopathy 10A, Severe Variant	Respiratory insufficiency, High palate, Camptodactyly of finger, Cleft palate, Dysphagia, Respira...	OMIM:614399
Cranioectodermal Dysplasia 1	Radial deviation of finger, Short ribs, Everted lower lip vermilion, Microdontia, Short humerus, ...	OMIM:218330
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Abnormal form of th...	ORPHA:3429
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Enlargement of the costochondral junction, Delayed eruption of teeth, Delayed epiphyseal...	ORPHA:289157
Hypochondroplasia	Limited elbow extension, Flared metaphysis, Short long bone, Aplasia/hypoplasia of the extremitie...	OMIM:146000
Disorganization, Mouse, Homolog Of	Cleft upper lip, Hand polydactyly, Cleft palate, Limb duplication, Sacral meningocele, Hip disloc...	OMIM:223200
Acromesomelic Dysplasia 2B	Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ...	OMIM:228900
Acrocapitofemoral Dysplasia	Scoliosis, Hyperlordosis, Flared iliac wing, Coxa vara, Abnormal femoral neck morphology, Short p...	ORPHA:63446
Postaxial Oligodactyly, Tetramelic	Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Absent fifth metatarsal, Single transver...	OMIM:176240
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Bowing of the legs, Limb undergrowth, Limited elbow extension	ORPHA:156728
Orofaciodigital Syndrome Vi	Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,...	OMIM:277170
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Fibular hypoplasia, Pseudoarthrosis	OMIM:607278
Ullrich Congenital Muscular Dystrophy	Abnormal palate morphology, Elbow flexion contracture, Slender finger, Respiratory failure, Micro...	ORPHA:75840
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Vertebral wedging, Scoliosis, Multiple prenatal fractures, Biconcave vert...	OMIM:301014
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Limb undergrowth, Abnormal limb bone morphology, Abnormal cortica...	ORPHA:2204
Radio-Renal Syndrome	Convex nasal ridge, Retrognathia, Hypoplasia of the radius, High, narrow palate, Chylothorax, Ple...	ORPHA:3015
Split-Hand/Foot Malformation 3	Narrow mouth, Split hand, Camptodactyly, High palate, Hypoplasia of the maxilla, Cleft palate, Mi...	OMIM:246560
Atelosteogenesis Type Ii	Sandal gap, Bilateral cleft palate, Tracheobronchomalacia, Short ribs, Short metacarpal, Short lo...	ORPHA:56304
Spondyloepimetaphyseal Dysplasia, Shohat Type	Generalized bone demineralization, Short long bone, Hyperlordosis, Metaphyseal irregularity, Abno...	ORPHA:93352
Ulbright-Hodes Syndrome	Short ribs, Short metacarpal, Mesomelia, Short humerus, Abnormal forearm bone morphology, Hypopla...	ORPHA:3404
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Jaundice, Irregular epiphyses, Early ossification of ...	OMIM:208500
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Femoral bowing, Short ribs, Tibial bowing, Sho...	OMIM:304120
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Platyspondyly, Rhizomelia, Vertebral compression fracture, Angulated humerus, Recurre...	OMIM:616229
Radial Ray Hypoplasia With Choanal Atresia	Hypoplasia of the radius, Distally placed thumb, Short thumb, Small thenar eminence	OMIM:179270
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Short ribs, Hypoplastic pelv...	OMIM:616300
Achondrogenesis Type 2	Abnormal bone ossification, Delayed pubic bone ossification, Short long bone, Short ribs, Hypopla...	ORPHA:93296
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Short long bone, Femoral bowing, Short ribs, Absent tibia, Intestinal malrotation, Cone-shaped ep...	OMIM:613091
Thrombocytopenia-Absent Radius Syndrome	Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Finger syndactyly, Apl...	ORPHA:3320
Coxoauricular Syndrome	Reduced bone mineral density, Abnormal femur morphology, Abnormal pelvic girdle bone morphology, ...	ORPHA:1508
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad metatarsal, Long philtrum, Joint hypermobility, Cone-shaped epiphysis, Sh...	ORPHA:439822
Spinal Muscular Atrophy, Type I	Respiratory insufficiency, Respiratory failure, Death in childhood	OMIM:253300
Duane-Radial Ray Syndrome	Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Abnormal nasopharynx ...	OMIM:607323
Orofaciodigital Syndrome Ii	Bifid nasal tip, Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, P...	OMIM:252100
Lujan-Fryns Syndrome	Short philtrum, Dental crowding, High palate, Abnormality of the dentition, Hypoplasia of the max...	ORPHA:776
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Femoral bowing, Death in infancy, Broad thumb, Bilateral radial aplasia, Abs...	OMIM:274000
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Kyphoscoliosis, Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hy...	ORPHA:96334
Blount Disease, Adolescent	Bowing of the legs, Genu varum	OMIM:259200
Robinow Syndrome, Autosomal Dominant 2	Kyphoscoliosis, Dental crowding, Broad thumb, Mesomelia, Wide mouth, Long philtrum, Short distal ...	OMIM:616331
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Genu valgum, Flat capital femoral epiphysis, Intervertebral space narrowing, Scoliosis, Thoracic ...	OMIM:609223
Atelosteogenesis Type I	Abnormal fibula morphology, Absent or minimally ossified vertebral bodies, Rhizomelia, Scoliosis,...	ORPHA:1190
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hyperactivity, Mandibular prognathia, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the max...	ORPHA:397973
Dysostosis, Stanescu Type	Abnormal metaphysis morphology, Abnormal palate morphology, Narrow nasal bridge, Increased bone m...	ORPHA:1798
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Short long bone, Flat acet...	ORPHA:94068
Cardioacrofacial Dysplasia 1	Genu valgum, Short philtrum, Conical tooth, Hypoplasia of the maxilla, Postaxial polydactyly, Lim...	OMIM:619142
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Genu valgum, Cubitus valgus, Metaphyseal striations, Hypoplasia of the maxilla, Slend...	OMIM:608154
Glass Syndrome	Anterior tibial bowing, Conical tooth, Dental crowding, Oligodontia, Gingival overgrowth, High pa...	OMIM:612313
Greenberg Dysplasia	Retrognathia, Short long bone, Short ribs, Short metacarpal, Decreased skull ossification, Multip...	OMIM:215140
Immunodeficiency 43	Lung abscess, Hypoplasia of the ulna, Radial bowing, Bronchiectasis, Recurrent respiratory infect...	OMIM:241600
Spondyloepimetaphyseal Dysplasia, Irapa Type	Limited elbow extension, Hypoplastic sacrum, Genu valgum, Short metatarsal, Upper limb undergrowt...	OMIM:271650
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Short nose, Osteopenia, Lambdoidal craniosynostosis, Anteverted nares, Hi...	OMIM:615398
Cleft Palate, Deafness, And Oligodontia	Cleft soft palate, Sandal gap, Short hallux, Agenesis of permanent teeth, Oligodontia of primary ...	OMIM:216300
Vacterl Association With Hydrocephalus	Stillbirth, Radial club hand, Respiratory insufficiency, Anal atresia, Absent thumb, Respiratory ...	OMIM:276950
Intellectual Disability, Wolff Type	Orofacial cleft, Thick lower lip vermilion, Clinodactyly of the 5th finger, Non-midline cleft of ...	ORPHA:3080
Mesomelia-Synostoses Syndrome	Abnormal femur morphology, Abnormal oral frenulum morphology, Joint stiffness, Mesomelia, Long ph...	ORPHA:2496
Laron Syndrome	Short long bone, Limb undergrowth	OMIM:262500
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Limited knee flexion/extension, Respiratory insufficiency, Limited elbow flexion, Respiratory fai...	ORPHA:266
Acrofacial Dysostosis, Rodríguez Type	Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap...	ORPHA:1788
Dent Disease 1	Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Tibial bowin...	OMIM:300009
Arthrogryposis Multiplex Congenita 6	Adducted thumb, Death in childhood, Death in infancy, Neonatal death, Respiratory failure, Arthro...	OMIM:619334
Neuropathy, Congenital Hypomyelinating, 3	Narrow palate, Retrognathia, Respiratory insufficiency, 2-3 toe syndactyly, Gingival overgrowth, ...	OMIM:618186
Orofaciodigital Syndrome Type 5	Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ...	ORPHA:2919
Surfactant Metabolism Dysfunction, Pulmonary, 3	Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol...	OMIM:610921
Achondroplasia	Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Kyphosis, Trident hand, Hypo...	ORPHA:15
20P12.3 Microdeletion Syndrome	Narrow mouth, Hypoplasia of the maxilla, Broad thumb, Malar flattening, Long philtrum, Broad hall...	ORPHA:261295
Brachydactyly, Type B1	Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplasti...	OMIM:113000
Dyssegmental Dysplasia, Silverman-Handmaker Type	Clubbing of fingers, Hypoplastic pubic bone, Respiratory insufficiency, Miscarriage, Short long b...	ORPHA:1865
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Hypoplasia of the ulna, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Anal atr...	ORPHA:1352
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Beaking of vertebral bodies, Platyspondyly, Large tarsal bones, Flared metaphysis, Short long bon...	OMIM:215150
Baller-Gerold Syndrome	Limited elbow movement, Carpal bone aplasia, Oligodactyly, Short humerus, Absent thumb, Bifid uvu...	OMIM:218600
Catel-Manzke Syndrome	Low insertion of columella, Glossoptosis, Short metacarpal, Ulnar deviation of the 2nd finger, Sh...	OMIM:616145
Platyspondylic Dysplasia, Torrance Type	Abnormal carpal morphology, Platyspondyly, Metaphyseal cupping, Bowing of the long bones, Hypopla...	ORPHA:85166
Pfeiffer Syndrome	Short nose, 3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Fing...	OMIM:101600
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral ...	OMIM:620076
Martsolf Syndrome 1	Slender ulna, Short metacarpal, Broad femoral neck, Long philtrum, Joint hypermobility, Short phi...	OMIM:212720
Pallister-Hall-Like Syndrome	Short nose, Short ribs, Postaxial hand polydactyly, Micromelia, Death in infancy, Micrognathia, C...	OMIM:241800
Codas Syndrome	Genu valgum, Proximal placement of thumb, Rectovaginal fistula, Delayed eruption of teeth, Anteve...	OMIM:600373
Autosomal Recessive Stickler Syndrome	Genu valgum, Platyspondyly, Epiphyseal dysplasia, Micrognathia, Cleft palate, Malar flattening, I...	ORPHA:250984
Terminal Osseous Dysplasia	Mesomelic arm shortening, Abnormal foot bone ossification, Abnormal hand bone ossification, Abnor...	OMIM:300244
Schwartz-Jampel Syndrome, Type 1	Kyphoscoliosis, Flexion contracture of toe, Wrist flexion contracture, Anterior bowing of long bo...	OMIM:255800
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,...	OMIM:184250
Distal Xq28 Microduplication Syndrome	Thick lower lip vermilion, Dental crowding, Short lingual frenulum, High palate, Impulsivity, Hyp...	ORPHA:293939
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Abnormal palate morphology, Abnormal metacarpal morphology, Respiratory insufficiency, Choanal at...	ORPHA:93262
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Triphalangeal thumb, Abnormal metacarpal morphology,...	ORPHA:2378
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Clubbing of fingers,...	ORPHA:2302
Endocrine-Cerebroosteodysplasia	Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Talipes equinovarus, Tibial b...	OMIM:612651
Otopalatodigital Syndrome Type 1	Abnormal metacarpal morphology, Proximal placement of thumb, Sandal gap, Short hallux, Increased ...	ORPHA:90650
Rhizomelic Chondrodysplasia Punctata	Abnormal metaphysis morphology, Rhizomelia, Spina bifida occulta, Epiphyseal stippling, Scoliosis...	ORPHA:177
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Metacarpal osteolysis, Wrist swelling, Carpal osteolysis, Ulnar deviation of the hand...	OMIM:166300
Alagille Syndrome	Hypoplasia of the ulna, Long nose, Clinodactyly of the 5th finger, Spina bifida occulta, Short ph...	ORPHA:52
Mucolipidosis Type Iii	Reduced bone mineral density, Abnormal hip bone morphology, Craniofacial hyperostosis, Abnormal f...	ORPHA:577
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Clinodactyly of the 5th toe, Dental crowding, Short metacarpal, Prominent ...	OMIM:170390
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory insufficiency, Respiratory failure, Death in infancy	OMIM:611722
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Hyperactivity, Short distal phalanx of finger, Aggressive behavior, Furrowed tongue, Large hands,...	OMIM:300534
Primary Pulmonary Hypoplasia	Pneumothorax, Cyanosis, Patellar hypoplasia, Hypoxemia, Micrognathia, Cleft palate, Pulmonary hyp...	ORPHA:2257
Acromesomelic Dysplasia 1	Limited elbow extension, Hypoplasia of the radius, Broad finger, Short metatarsal, Cone-shaped ep...	OMIM:602875
Dermatosparaxis Ehlers-Danlos Syndrome	Rickets, Retrognathia, Osteopenia, Excessive wrinkled skin, Gastroesophageal reflux, Hiatus herni...	ORPHA:1901
X-Linked Hypophosphatemia	Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,...	ORPHA:89936
Waardenburg Syndrome Type 3	Atelectasis, Narrow nasal bridge, Tracheomalacia, Abnormal finger morphology, Abnormality of the ...	ORPHA:896
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormal bone ossification, Flat acetabular roof, Wide proximal femoral metaphysis, Flattened epi...	ORPHA:163649
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Hyperextensibility at elbow, Synovitis, Lumbar scoliosis, Bifid uvula, Wrist...	OMIM:601492
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormality of the philtrum, Choanal atresia, Missing ribs, Arach...	ORPHA:2759
Craniosynostosis, Herrmann-Opitz Type	Short nose, Craniosynostosis, Finger syndactyly, Split hand, Micromelia, Micrognathia, Cleft pala...	ORPHA:2145
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Scoliosis, Hypermobility of i...	OMIM:613849
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Genu valgum, Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, ...	ORPHA:2972
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Short nose, 2-3 toe syndactyly, High palate, Hypoplasia of the maxilla, Long fingers, Respiratory...	OMIM:218000
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Kyphoscoliosis, Dislocated radial head, Short metacarpal, Broad femoral neck, Bifid uvula, Flatte...	OMIM:612350
Cleidocranial Dysplasia 2	Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Wide anterior font...	OMIM:620099
Stuve-Wiedemann Syndrome 2	Stillbirth, Scoliosis, Short long bone, Bowing of the long bones, Camptodactyly, Death in adolesc...	OMIM:619751
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Widely spaced teeth, Bowed humerus, Short lingual frenulum, Short long bone, Microdontia, Short h...	OMIM:619479
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short 4th metacarpal, High, narrow palate, Hypodontia, Tapered finger, Glossoptosis, Camptodactyl...	ORPHA:3201
Holzgreve Syndrome	Abnormal metacarpal morphology, Abnormally ossified vertebrae, Joint stiffness, Hand polydactyly,...	ORPHA:2167
Cleidocranial Dysplasia, Recessive Form	Brachycephaly, Severe short stature	OMIM:216330
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo...	ORPHA:166119
Satb2-Associated Syndrome Due To A Pathogenic Variant	Osteopenia, Abnormality of the hand, Clinodactyly of the 5th finger, High palate, Abnormality of ...	ORPHA:576283
Surfactant Metabolism Dysfunction, Pulmonary, 1	Intraalveolar phospholipid accumulation, Clubbing, Death in infancy, Respiratory failure, Neonata...	OMIM:265120
Orofaciodigital Syndrome Type 2	Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod...	ORPHA:2751
Rothmund-Thomson Syndrome	Hypoplasia of the ulna, Supernumerary tooth, Osteopenia, Reduced bone mineral density, Metaphysea...	ORPHA:2909
Cerebrocostomandibular Syndrome	Glossoptosis, Short humerus, Long philtrum, 10 pairs of ribs, Calcaneal epiphyseal stippling, Elb...	OMIM:117650
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Osteoglophonic Dysplasia	Eruption failure, Short metacarpal, Broad metatarsal, Broad thumb, Long philtrum, Craniosynostosi...	OMIM:166250
Hypophosphatasia	Abnormal metaphysis morphology, Emphysema, Respiratory insufficiency, Abnormality of the dentitio...	ORPHA:436
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Narrow palate, Elbow flexion contracture, Split...	OMIM:200980
Stickler Syndrome, Type I	Beaking of vertebral bodies, Abnormal femoral epiphysis morphology, Platyspondyly, Spondylolisthe...	OMIM:108300
Achondrogenesis, Type Ia	Hypoplastic sacrum, Abnormal hand bone ossification, Short ribs, Decreased skull ossification, Hy...	OMIM:200600
Achondrogenesis Type 1A	Short nose, Anteverted nares, Recurrent fractures, Abnormal enchondral ossification, Micromelia, ...	ORPHA:93299
Femoral-Facial Syndrome	Aplasia/hypoplasia of the femur, Limited elbow movement, Short humerus, Syndactyly, Absent verteb...	OMIM:134780
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Narrow greater sciatic notch, Equinovarus deformity, Short ribs, Short long bone, Bowing of the l...	OMIM:224400
Moebius Syndrome	Aplasia of the pectoralis major muscle, Everted lower lip vermilion, Microdontia, Tooth agenesis,...	ORPHA:570
Pycnodysostosis	Hypoplastic iliac wing, Acromelia, Mesomelia, Joint hypermobility, Delayed eruption of primary te...	ORPHA:763
Multiple Osteochondromas	Intestinal obstruction, Abnormal femur morphology, Limitation of knee mobility, Deformed forearm ...	ORPHA:321
Coffin-Lowry Syndrome	Short metacarpal, Everted lower lip vermilion, Wide mouth, Short distal phalanx of finger, Joint ...	ORPHA:192
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Kyphoscoliosis, Delayed pubic bone ossification, Proximal placement of thumb, Hypoplastic iliac w...	OMIM:613330
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short nose, Flared metaphysis, Anteverted nares, Short ribs, Pleural effusion, Decrea...	OMIM:616897
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Dysosteosclerosis	Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Broad ribs, Absent paranasal sinuse...	OMIM:224300
Dental Anomalies And Short Stature	Amelogenesis imperfecta, Widely spaced teeth, Intervertebral space narrowing, Mandibular prognath...	OMIM:601216
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Widely spaced teeth, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the ...	OMIM:617102
Craniosynostosis With Fibular Aplasia	Fibular aplasia, Single transverse palmar crease, Craniosynostosis	OMIM:218550
Hypocalcemic Vitamin D-Resistant Rickets	Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Abnormal form of the v...	ORPHA:93160
Hall-Riggs Syndrome	Abnormal metaphysis morphology, Platyspondyly, Delayed eruption of teeth, Abnormal dental enamel ...	ORPHA:2107
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal morphology of ulna, High palate, Abnormal metacarpal morphology	ORPHA:2233
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic...	OMIM:228520
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Cutaneous photosensitivity, Micrognathia, Cleft palate, Arthrogryposis multip...	OMIM:616570
Achondrogenesis, Type Ii	Short tubular bones of the hand, Stillbirth, Abnormal foot morphology, Hypoplastic iliac wing, Sh...	OMIM:200610
Nemaline Myopathy 8	Respiratory failure, Flexion contracture, Death in infancy	OMIM:615348
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi...	OMIM:113310
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Long nose, Short philtrum, Narrow nasal bridge, Hyperactivity, Hyperextensibility of the finger j...	OMIM:309520
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di...	OMIM:603546
Cohen Syndrome	High, narrow palate, Genu valgum, Cubitus valgus, Short metatarsal, Short philtrum, Single transv...	OMIM:216550
Restrictive Dermopathy 2	Rectal prolapse, Gastroesophageal reflux, Short clavicles, Overtubulated long bones, Hypoplastic ...	OMIM:619793
Rhizomelic Chondrodysplasia Punctata, Type 1	Kyphoscoliosis, Rhizomelia, Epiphyseal stippling, Flared metaphysis, Calcific stippling of infant...	OMIM:215100
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Recurrent lower respiratory tract infections, Delayed eruption of teeth, Gingival overgrowth, Sho...	ORPHA:508542
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Limited pronation/supination of forearm, Madelung deformity, Radial bowing	DECIPHER:58
Jeune Syndrome	Abnormal metaphysis morphology, Respiratory insufficiency, Postaxial hand polydactyly, Abnormal p...	ORPHA:474
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Premature loss of teeth, Bowing of the long bones, Os...	OMIM:239000
Acrocephalopolydactyly	Genu recurvatum, Short long bone, Limb undergrowth, Brachydactyly, Short neck	ORPHA:221054
Multicentric Osteolysis, Nodulosis, And Arthropathy	Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contracture, Broad metata...	OMIM:259600
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Femur fracture, Spina bifida occulta, Single transverse palmar crease, Congenital hip dislocation...	OMIM:618291
Aarskog-Scott Syndrome	Radial deviation of finger, Attention deficit hyperactivity disorder, Syndactyly, Broad philtrum,...	OMIM:305400
Achondrogenesis Type 1B	Short nose, Anteverted nares, Aplasia/Hypoplasia of the lungs, Abnormal enchondral ossification, ...	ORPHA:93298
Femoral-Facial Syndrome	Abnormal fibula morphology, Orofacial cleft, Scoliosis, Vertebral segmentation defect, Abnormal p...	ORPHA:1988
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory insufficiency, Respiratory failure, Death in infancy	OMIM:613869
Geleophysic Dysplasia 3	Long philtrum, Limited elbow movement, Anteverted nares, Epiphyseal dysplasia, Limb undergrowth, ...	OMIM:617809
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
Cono-Spondylar Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Anteverted nares, Epiphyseal dysplasia, Short...	ORPHA:420794
2Q32Q33 Microdeletion Syndrome	Convex nasal ridge, Thin vermilion border, Clinodactyly of the 5th finger, Joint hypermobility, D...	ORPHA:251019
Seckel Syndrome 1	Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Dental cr...	OMIM:210600
Oculofaciocardiodental Syndrome	Abnormal palate morphology, Genu valgum, Clinodactyly of the 5th finger, Hammertoe, Solitary medi...	ORPHA:2712
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Femoral bowing, Glossoptosis, Dumbbell-shaped long bone, Micromelia, Micrognathia, Me...	ORPHA:440354
Achondrogenesis	Short nose, Anteverted nares, Abnormality of bone mineral density, Abnormal enchondral ossificati...	ORPHA:932
48,Xyyy Syndrome	Thick lower lip vermilion, Aggressive behavior, Dislocated radial head, High palate, Impulsivity,...	ORPHA:99329
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Short finger, Irregular epiphyses, Platyspondyly, Rhizomelia, Mandibular prognathia, Broad thumb,...	OMIM:612813
Ruvalcaba Syndrome	Limited elbow extension, Short metatarsal, Short metacarpal, Micromelia, Short palm, Short phalan...	OMIM:180870
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Vertebral wedging, 2-3 toe syndactyly, Short ribs, Missing ri...	OMIM:617866
Thanatophoric Dysplasia, Type Ii	Platyspondyly, Short greater sciatic notch, Flared metaphysis, Wide-cupped costochondral junction...	OMIM:187601
Spondylometaphyseal Dysplasia, Algerian Type	Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysis, Genu valgum, ...	OMIM:184253
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Bilateral talipes equinovarus, Mesomelia, Limb undergrowth, Shortening of all phalanges of finger...	OMIM:601356
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l...	OMIM:300106
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Stillbirth, Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Median cleft palate...	OMIM:119800
Spondyloepiphyseal Dysplasia Tarda	Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse...	ORPHA:93284
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Genu valgum, Reduced bone mineral density, Broad femoral head, Severe platyspondyly, ...	OMIM:620639
Fibrochondrogenesis 2	Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Cupped ribs, Hypoplasti...	OMIM:614524
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Retrognathia, Hip subluxation, Genu valgum, Platyspondyly, Gastroeso...	OMIM:618853
Juberg-Hayward Syndrome	Hypoplasia of the radius, Orofacial cleft, Abnormality of the wrist, Abnormal metacarpal morpholo...	ORPHA:2319
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory insufficiency, Intraalveolar phospholipid accumulation, Nonspecific interstitial pneu...	OMIM:610913
Distal Deletion 17Q	Abnormal thumb morphology, Abnormal hip bone morphology, Abnormal metacarpal morphology, Aplasia/...	ORPHA:1597
Tetrasomy 5P	Short nose, Clinodactyly of the 5th finger, Short hallux, Wide anterior fontanel, Anteverted nare...	ORPHA:3309
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Short long bone, Femoral bowing, Hyperlordosis, Kyphosis, Metaphyseal irregularity, Joint hypermo...	OMIM:618019
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Bifid first metacarpal, Femoral bowing, Short metacarpal, Death in infancy, ...	OMIM:210710
Slc35A2-Cdg	Osteopenia, Abnormality of the hand, Hip subluxation, Abnormal long bone morphology, Talipes equi...	ORPHA:356961
Dyssegmental Dysplasia, Silverman-Handmaker Type	Respiratory insufficiency, Short long bone, Narrow mouth, Bowing of the long bones, Micromelia, M...	OMIM:224410
Sandestig-Stefanova Syndrome	Rocker bottom foot, Retrognathia, Orofacial cleft, Convex nasal ridge, Bilateral single transvers...	OMIM:618804
Carpenter Syndrome 1	Flared iliac wing, Duplication of the proximal phalanx of the hallux, Genu varum, Coxa valga, Pos...	OMIM:201000
Axial Spondylometaphyseal Dysplasia	Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short...	ORPHA:168549
8Q22.1 Microdeletion Syndrome	Abnormal nostril morphology, Sandal gap, Finger syndactyly, Limitation of joint mobility, Abnorma...	ORPHA:178303
Immunodeficiency 95	Respiratory failure, Recurrent respiratory infections, Recurrent viral upper respiratory tract in...	OMIM:619773
Glutamine Deficiency, Congenital	Thin vermilion border, Short nose, Erythema, Anteverted nares, Camptodactyly, Micromelia, Neonata...	OMIM:610015
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Kyphoscoliosis, Delayed ossification of carpal bones, Short dental root, Biconcave vertebral bodi...	OMIM:271510
Bone Dysplasia, Lethal Holmgren Type	Abnormal thumb morphology, Abnormality of the hand, Abnormal femur morphology, Rhizomelia, Abnorm...	ORPHA:1842
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Lumbar scoliosis, Lower limb undergrowth, Brachydactyly, Irregular vertebral endp...	OMIM:612847
Dysspondyloenchondromatosis	Abnormal ulnar metaphysis morphology, Abnormal fibula morphology, Genu valgum, Metaphyseal enchon...	ORPHA:85198
Tibial Hemimelia	Absent tibia	OMIM:275220
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Short long bone, Hyperlordosis,...	ORPHA:457395
Campomelia, Cumming Type	Prematurely aged appearance, Abnormal intestine morphology, Bowing of the long bones, Abnormal ri...	ORPHA:1318
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Thin ribs, Hypoplasia ...	OMIM:300863
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Abnormal cortical bone morphology, Upper limb undergrowth, Limitation of joint mobility, Toe clin...	ORPHA:166277
Craniometadiaphyseal Dysplasia	Osteopenia, Genu valgum, Flared metaphysis, Dental crowding, Mandibular prognathia, Scoliosis, Hi...	OMIM:269300
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger, Restlessness	OMIM:300266
Developmental Malformations-Deafness-Dystonia Syndrome	Orofacial cleft, Death in early adulthood, Femoral retroversion, Scoliosis, Kyphosis, Micromelia,...	ORPHA:79107
Hereditary Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormal palate morphology, Anteverted nares, Narrow mouth, Depressed nasal ridge, Congenital hip...	ORPHA:2412
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Long philtrum, Thin vermilion border, Clinodactyly of the 5th finger, Gastroesophageal reflux, 2-...	OMIM:614701
Holt-Oram Syndrome	Aplasia of the pectoralis major muscle, Proximal placement of thumb, Cervical C2/C3 vertebral fus...	OMIM:142900
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in childhood, Wide distal femoral metaphysis, Delayed epiphyseal ossification, Metaphyseal ...	OMIM:613320
Progressive Pseudorheumatoid Arthropathy Of Childhood	Hyperlordosis, Generalized osteoporosis, Broad femoral neck, Abnormality of hand joint mobility, ...	ORPHA:1159
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory insufficiency, Calf muscle hypertrophy, Abnormality of the tongue muscle, Respiratory...	ORPHA:370968
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Kyphoscoliosis, Platyspondyly, Pathologic fracture, Vertebral compression fracture, S...	OMIM:259770
Malan Syndrome	Retrognathia, Advanced eruption of teeth, Mandibular prognathia, Gingival overgrowth, Narrow mout...	OMIM:614753
Steinfeld Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Median cleft p...	OMIM:184705
Ceroid Lipofuscinosis, Neuronal, 10	Respiratory insufficiency, Split hand, Neonatal death, Respiratory failure, Wide nasal bridge	OMIM:610127
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, High palate, ...	OMIM:147891
Idiopathic Pulmonary Fibrosis	Abnormal pulmonary interstitial morphology, Orthodeoxia, Reticular pattern on pulmonary HRCT, Clu...	ORPHA:2032
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Abnormal thumb morphology, Aganglionic megacolon, Radial club hand, Triph...	ORPHA:959
Robinow Syndrome, Autosomal Recessive 2	Sandal gap, Triangular mouth, Cleft soft palate, Gingival overgrowth, Prominent fingertip pads, A...	OMIM:618529
Brachytelephalangic Chondrodysplasia Punctata	Short distal phalanx of toe, Short distal phalanx of finger, Calcaneal epiphyseal stippling, Nasa...	ORPHA:79345
Kagami-Ogata Syndrome	Retrognathia, Anteverted nares, Hypoplasia of the maxilla, Micrognathia, Long fingers, Pulmonary ...	OMIM:608149
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, W...	OMIM:617925
Acromesomelic Dysplasia 4	Sandal gap, Short metacarpal, Mesomelia, Metaphyseal irregularity, Prominent deltoid tuberosities...	OMIM:619636
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure, Congenital contracture	OMIM:225753
Schinzel-Giedion Syndrome	Kyphoscoliosis, Retrognathia, Stiff elbow, Broad alveolar ridges, Tibial bowing, Wide mouth, Dysp...	ORPHA:798
Osteopathia Striata-Cranial Sclerosis Syndrome	Abnormal metaphysis morphology, Retrognathia, High, narrow palate, Osteopetrosis, Spina bifida oc...	ORPHA:2780
Dyggve-Melchior-Clausen Disease	Abnormal hip bone morphology, Abnormal femoral head morphology, Short long bone, Limited knee ext...	ORPHA:239
Oculodentodigital Dysplasia, Autosomal Recessive	2-4 toe cutaneous syndactyly, Hypoplasia of the primary teeth, Long nose, Dental crowding, Long p...	OMIM:257850
Choanal Atresia	Polydactyly, Tracheomalacia, Nasal congestion, Choking episodes, Craniosynostosis, Recurrent resp...	ORPHA:137914
Meier-Gorlin Syndrome 4	Thick lower lip vermilion, Emphysema, Slender long bone, Narrow mouth, Hypoplasia of the maxilla,...	OMIM:613804
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Meier-Gorlin Syndrome 1	Absent sternal ossification, Short ribs, Microdontia, Death in infancy, Joint hypermobility, Coxa...	OMIM:224690
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Recurrent mandibular subluxations, Spontaneous neonatal pneumothorax, Joint hypermobi...	OMIM:225410
Solitary Bone Cyst	Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ...	ORPHA:83468
Cleft Lip/Palate	Orofacial cleft, Abnormal number of permanent teeth, Oral-pharyngeal dysphagia, Peg-shaped maxill...	ORPHA:199306
Desbuquois Dysplasia 2	Dental crowding, Short long bone, Flat acetabular roof, Short metacarpal, Knee dislocation, Broad...	OMIM:615777
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ...	ORPHA:93314
Meckel Syndrome 14	Pneumothorax, Retrognathia, Anteverted nares, Postaxial hand polydactyly, Bowing of the long bone...	OMIM:619879
Gómez-López-Hernández Syndrome	Hydrocephalus, Turricephaly, Brachycephaly, Short stature	ORPHA:1532
Developmental And Epileptic Encephalopathy 71	Respiratory insufficiency, Respiratory failure	OMIM:618328
Osteogenesis Imperfecta, Type Vi	Beaking of vertebral bodies, Vertebral compression fracture, Coxa vara, Biconcave vertebral bodie...	OMIM:613982
Fibrous Dysplasia Of Bone	Abnormal femur morphology, Pathologic fracture, Osteolysis, Rickets, Abnormality of the sphenoid ...	ORPHA:249
Fanconi Anemia, Complementation Group O	Hypoplasia of the radius, Proximal placement of thumb, Miscarriage, Anal atresia, Death in infanc...	OMIM:613390
Primary Ciliary Dyskinesia	Atelectasis, Pulmonary situs ambiguus, Clubbing, Nasal congestion, Chronic rhinitis, Nasal polypo...	ORPHA:244
Fatco Syndrome	Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Respiratory insufficien...	ORPHA:2492
Schinzel-Giedion Midface Retraction Syndrome	Short 1st metacarpal, Wide distal femoral metaphysis, Talipes equinovarus, Tibial bowing, Postaxi...	OMIM:269150
Congenital Syphilis	Periostitis, Purpura, Petechiae, Tibial bowing, Notched primary central incisor, High palate, Syn...	ORPHA:499009
Ulnar-Mammary Syndrome	Aplasia of the 4th metacarpal, Stiff elbow, Short humerus, Absent radius, Aplasia of the 3rd meta...	OMIM:181450
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Anterior scalloping of vertebral bodies, Hypoplastic iliac wing, Short long bone, Short metacarpa...	OMIM:611717
Achondrogenesis, Type Ib	Stillbirth, Absent or minimally ossified vertebral bodies, Short ribs, Hypoplastic ilia, Micromel...	OMIM:600972
Kuskokwim Syndrome	Joint stiffness, Aplasia/Hypoplasia of the patella, Talipes, Aplasia/Hypoplasia of the radius	ORPHA:1149
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Respiratory insufficiency, Hyperextensibility of the finger joints, Glossoptosi...	OMIM:618356
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Fibular bowing, Tibial bowing, Femoral bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia o...	ORPHA:85165
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il...	OMIM:271640
Fibrochondrogenesis	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal form of the vertebral bod...	ORPHA:2021
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Thin vermilion border, Aggressive behavior, Anteverted nares, High palate, Hypoplasia of the maxi...	ORPHA:481152
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Clinodactyly of the 2nd finger, Flat acetabular roof, Limited knee extension, Joint hypermobility...	OMIM:618870
Ollier Disease	Abnormal metaphysis morphology, Micromelia, Joint stiffness, Abnormal cartilage morphology, Multi...	ORPHA:296
Kniest Dysplasia	Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Joint stiffness, Dumbbell-shaped...	ORPHA:485
Cleidocranial Dysplasia	Glossoptosis, Decreased skull ossification, Sinusitis, Abnormal epiphysis morphology, Abnormal sa...	ORPHA:1452
Apert Syndrome	Narrow palate, Convex nasal ridge, Esophageal atresia, Aplasia/Hypoplasia of the thumb, Delayed e...	ORPHA:87
Van Maldergem Syndrome 1	Joint hypermobility, Clinodactyly, Short 4th metacarpal, Sacral dimple, Scoliosis, Camptodactyly,...	OMIM:601390
Split-Foot Deformity With Mandibulofacial Dysostosis	Split hand, Split foot, Micrognathia, Cleft palate, Malar flattening, Toe syndactyly	OMIM:183700
Thanatophoric Dysplasia, Glasgow Variant	Micromelia	OMIM:273680
Orofaciodigital Syndrome Xix	Narrow palate, Retrognathia, Cleft soft palate, Midline notching of lower lip, Postaxial hand pol...	OMIM:620107
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Short metacarpal, Fl...	OMIM:271665
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Camptodactyly of finger, Brachydactyly, Ulnar...	ORPHA:2928
Hypophosphatasia, Infantile	Stillbirth, Unossified vertebral bodies, Metaphyseal cupping, Short ribs, Abnormality of the dent...	OMIM:241500
Osteogenesis Imperfecta, Type Xviii	Vertebral compression fracture, Thin ribs, Femoral bowing, Bowing of the long bones, Abnormality ...	OMIM:617952
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Retrognathia, Mandibular prognathia, Camptodactyly of finger, Micrognathia, Bifid uvula, Cleft pa...	ORPHA:2521
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum...	ORPHA:2345
Cleft Velum	Cleft soft palate, Oral-pharyngeal dysphagia, Aspiration pneumonia, Hypoplasia of the maxilla, Ve...	ORPHA:99772
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Platyspondyly, Abnormal cartilage matrix, Flared metaphysis, Wide an...	ORPHA:2347
Marshall Syndrome	Short nose, Genu valgum, Thick lower lip vermilion, Anteverted nares, High palate, Abnormality of...	ORPHA:560
Split-Hand/Foot Malformation 1	Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Cleft palate, Foot oli...	OMIM:183600
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Respiratory failure, Dysphagia, Aspiration pn...	ORPHA:90117
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Short long bone, Short ribs, Cupped ribs, Metaphyseal irregularity, Joint hypermobility, Genu var...	OMIM:250420
Wiedemann-Rautenstrauch Syndrome	Narrow nasal ridge, Hypoplastic facial bones, Short humerus, Dysphagia, Long philtrum, Long toe, ...	OMIM:264090
Intermediate Nemaline Myopathy	High, narrow palate, Multiple prenatal fractures, Flexion contracture, Long philtrum, Respiratory...	ORPHA:171433
Glycine Encephalopathy With Normal Serum Glycine	Retrognathia, Anteverted nares, Elbow flexion contracture, Respiratory failure, Hand clenching, H...	OMIM:617301
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Scoliosis, Anal atresia, Short middle phalanx of finger, Thoracic hemiv...	ORPHA:1436
Prader-Willi Syndrome Due To Imprinting Mutation	Abnormal ulnar metaphysis morphology, Polyphagia, Narrow palm, Short foot, Small hand	ORPHA:177910
Achondroplasia	Narrow greater sciatic notch, Femoral bowing, Short ribs, Trident hand, Death in infancy, Genu va...	OMIM:100800
Acrodysostosis 1 With Or Without Hormone Resistance	Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Calvarial hyperostosi...	OMIM:101800
Myhre Syndrome	Abnormal metaphysis morphology, Thin vermilion border, Gingival cleft, Platyspondyly, Craniofacia...	ORPHA:2588
Otopalatodigital Syndrome, Type I	Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor...	OMIM:311300
Zechi-Ceide Syndrome	Short metatarsal, Sandal gap, Wide nose, Oligodontia, Cleft upper lip, Cleft palate, Malar flatte...	OMIM:612916
Occipital Horn Syndrome	Limited elbow extension, Genu valgum, Joint hypermobility, Hiatus hernia, Short clavicles, High p...	OMIM:304150
Saethre-Chotzen Syndrome	Narrow palate, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Tripha...	ORPHA:794
Tarp Syndrome	Rocker bottom foot, Cyanosis, Finger syndactyly, Anteverted nares, Single transverse palmar creas...	ORPHA:2886
Craniolenticulosutural Dysplasia	Thin vermilion border, Delayed eruption of teeth, Premature loss of teeth, Scoliosis, High palate...	ORPHA:50814
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Missing ribs, Cleft palate, Narrow pelvis bone, Sh...	ORPHA:66637
Marshall Syndrome	Small proximal tibial epiphyses, Bifid uvula, Irregular femoral epiphysis, Long philtrum, Irregul...	OMIM:154780
Infantile Systemic Hyalinosis	Osteopenia, Steatorrhea, Abnormality of the gastrointestinal tract, Gingival overgrowth, Osteopor...	ORPHA:2176
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Multiple prenatal fractures, Pulmonary hypoplasia, Dysphagia, Flexion contracture, Respiratory fa...	OMIM:616867
Progressive Pseudorheumatoid Dysplasia	Kyphoscoliosis, Abnormal foot morphology, Sclerotic vertebral endplates, Platyspondyly, Enlarged ...	OMIM:208230
Loeys-Dietz Syndrome 5	Kyphoscoliosis, Retrognathia, Flexion contracture of toe, Spondylolisthesis, Congenital finger fl...	OMIM:615582
Phocomelia, Schinzel Type	Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, High, ...	ORPHA:2879
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polydactyly, Short uvula, Agenesis of permanent teeth, Short lingual frenulum, Short long bone, F...	OMIM:614091
Cornelia De Lange Syndrome 5	Limited elbow extension, Retrognathia, Thin vermilion border, Widely spaced teeth, Clinodactyly o...	OMIM:300882
Thanatophoric Dysplasia Type 1	Abnormal metaphysis morphology, Excessive wrinkled skin, Short greater sciatic notch, Respiratory...	ORPHA:1860
Vertebral Hypersegmentation And Orofacial Anomalies	Unilateral cleft palate, Six lumbar vertebrae, Micrognathia, Supernumerary ribs, Unilateral cleft...	OMIM:619122
Van Maldergem Syndrome 2	Joint hypermobility, Clinodactyly, Short 4th metacarpal, Short fourth metatarsal, Ulnar deviation...	OMIM:615546
Smith-Mccort Dysplasia 1	Beaking of vertebral bodies, Genu valgum, Irregular epiphyses, Hypoplastic acetabulae, Scoliosis,...	OMIM:607326
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles	OMIM:264270
Cardioacrofacial Dysplasia 2	Genu valgum, Clinodactyly of the 5th finger, Short philtrum, Conical tooth, Mandibular prognathia...	OMIM:619143
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Abnormal metacarpal morphology, Glossoptosis, Micrognathia, Cleft palate, Malar flattening, Osteo...	ORPHA:166100
Hypophosphatasia, Childhood	Carious teeth, Rachitic rosary, Premature loss of primary teeth, Craniosynostosis, Bowing of the ...	OMIM:241510
Coffin-Siris Syndrome 11	Esophageal atresia, Cleft soft palate, High palate, Downturned corners of mouth, Bifid uvula, Wid...	OMIM:618779
Blomstrand Lethal Chondrodysplasia	Short ribs, Short metacarpal, Mesomelia, Long philtrum, Abnormal epiphysis morphology, Aplastic c...	ORPHA:50945
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Repeated pneumothoraces, Microdontia, Arachnodactyly, Slender long bones with narrow diaphyses, D...	ORPHA:536467
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Long foot, Mandibular prognathia, Scoliosis, High palate, Kyphosis, Hypoplasia of the maxilla	OMIM:300676
Sponastrime Dysplasia	Kyphoscoliosis, Short long bone, Short dental root, Microdontia, Biconcave vertebral bodies, Meso...	ORPHA:93357
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Abnormal form of ...	ORPHA:3144
Shprintzen-Goldberg Craniosynostosis Syndrome	Dislocated radial head, Arachnodactyly, Joint hypermobility, Craniosynostosis, Narrow palate, Sco...	OMIM:182212
ERI1-related disease	Osteopenia, Limited elbow extension, Increased vertebral height, Clinodactyly of the 5th finger, ...	OMIM:608739
C Syndrome	Short nose, Radial deviation of finger, Dislocated radial head, Thick anterior alveolar ridges, A...	OMIM:211750
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Sacral dimple, Short long bone, Vertebral segmentation defect, Death in infancy, Talipes equinova...	OMIM:618845
Microcephaly-Capillary Malformation Syndrome	Short nose, Wide nose, Hypoplasia of the maxilla, Cleft palate, Brachydactyly, Short distal phala...	OMIM:614261
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneum...	ORPHA:2590
Teebi Hypertelorism Syndrome 2	Short nose, Clinodactyly of the 5th finger, Delayed eruption of teeth, Wide anterior fontanel, Hi...	OMIM:619736
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Abnormal lung lobation, Bilateral single transverse palmar creases, High, narrow palate, Joint st...	ORPHA:2516
Classic Multiminicore Myopathy	Nocturnal hypoventilation, Spinal rigidity, Mandibular prognathia, Scoliosis, High palate, Micror...	ORPHA:324604
Thoracic Dysplasia-Hydrocephalus Syndrome	Abnormal metaphysis morphology, Respiratory failure, Limb undergrowth, Depressed nasal ridge	ORPHA:1861
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Equinovarus deformity, Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wi...	ORPHA:2502
Ulnar Agenesis And Endocardial Fibroelastosis	Aplasia of the ulna, Finger aplasia	OMIM:276822
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Abnormal palate morphology, Thick lower lip vermilion, Abnormal metatarsal morphology, Narrow phi...	ORPHA:163654
Muscular Dystrophy, Congenital, 1B	Respiratory failure, Achilles tendon contracture, Shoulder girdle muscle weakness	OMIM:604801
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Bilateral single transverse palmar creases, Retrognathia, Aplasia/hypoplasia of the femur, Broad ...	ORPHA:2636
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Conical tooth, Underdeveloped nasal alae,...	OMIM:129400
Cutis Laxa-Marfanoid Syndrome	Emphysema, Limitation of joint mobility, Arachnodactyly, Flexion contracture, Hip dislocation	ORPHA:171719
Pulmonary Alveolar Proteinosis, Acquired	Lung abscess, Intraalveolar phospholipid accumulation, Clubbing, Hypoxemia, Pneumonia, Recurrent ...	OMIM:610910
Raine Syndrome	Subperiosteal bone formation, Microdontia, Death in infancy, Wide mouth, Increased bone mineral d...	OMIM:259775
Frontometaphyseal Dysplasia 1	Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co...	OMIM:305620
Chromosome 17Q12 Duplication Syndrome	Esophageal atresia, Cleft soft palate, Broad thumb, Micrognathia, Brachydactyly, Smooth philtrum	OMIM:614526
Cohen Syndrome	Abnormal hip bone morphology, Sandal gap, Tooth agenesis, Arachnodactyly, Joint hypermobility, Sh...	ORPHA:193
Congenital Disorder Of Glycosylation, Type Iig	Kyphoscoliosis, Short long bone, Glossoptosis, Broad femoral neck, Long philtrum, Butterfly verte...	OMIM:611209
Short-Rib Thoracic Dysplasia 12	Short long bone, Short ribs, Intestinal malrotation, Short finger, Short palm, Lobulated tongue, ...	OMIM:269860
Tarp Syndrome	Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Meckel diverticulum, Anteverted...	OMIM:311900
Occipital Horn Syndrome	Large iliac wing, Absent tibia, Kyphosis, Dysphagia, Aplasia/hypoplasia of the humerus, Long phil...	ORPHA:198
Ventriculomegaly With Defects Of The Radius And Kidney	Absent radius, Bowed forearm bones, Absent thumb, Forearm undergrowth	OMIM:602200
Catifa Syndrome	Tooth malposition, Delayed eruption of teeth, Increased overbite, Anteverted nares, Camptodactyly...	OMIM:618761
7Q31 Microdeletion Syndrome	Abnormal temper tantrums, Clinodactyly of the 2nd finger, Hyperactivity, Prominent fingertip pads...	ORPHA:251061
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Diffuse palmoplantar hyperkeratosis, Acrocyanosis	ORPHA:86918
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Narrow palate, Anteverted nares, Tented upper lip vermilion, Flexion contracture, Respiratory fai...	OMIM:616505
Cousin Syndrome	Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, An...	OMIM:260660
Congenital Muscular Dystrophy, Fukuyama Type	Brachycephaly, Plagiocephaly, Hydrocephalus, Dolichocephaly, Intrauterine growth retardation, Dil...	ORPHA:272
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	High palate, Recurrent hand flapping, Compulsive behaviors, Cleft palate, Malar flattening, Open ...	OMIM:620021
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Abnormal hip bone morphology, Respiratory insufficiency, Abnormal lower lip morphology, Tooth age...	ORPHA:1166
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Orofacial cleft, Aplasia/Hypoplasia of the thum...	ORPHA:3186
Joubert Syndrome 18	Kyphoscoliosis, Retrognathia, Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Cle...	OMIM:614815
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Hypoplastic nasal tip, Clubbing of fingers, Single transverse palmar crease, 2-3 toe syndactyly, ...	ORPHA:3304
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Kyphoscoliosis, Everted lower lip vermilion, Lumbar kyphosis in infancy, Short philtrum, 4-5 toe ...	ORPHA:3041
Thanatophoric Dysplasia	Abnormal metaphysis morphology, Abnormal ilium morphology, Respiratory insufficiency, Abnormal sa...	ORPHA:2655
Chst3-Related Skeletal Dysplasia	Kyphoscoliosis, Genu valgum, Irregular epiphyses, Intervertebral space narrowing, Small epiphyses...	ORPHA:263463
Mucopolysaccharidosis, Type Iva	Hyperlordosis, Kyphosis, Constricted iliac wing, Wide mouth, Joint hypermobility, Coxa valga, Cer...	OMIM:253000
Microphthalmia, Syndromic 12	Retrognathia, Intestinal malrotation, Micrognathia, Cleft palate, Pulmonary hypoplasia, Broad nas...	OMIM:615524
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita, Pulmonary hypoplasia	OMIM:601809
Smith-Mccort Dysplasia 2	Limited elbow extension, Genu valgum, Platyspondyly, Short metatarsal, Mandibular prognathia, Hyp...	OMIM:615222
48,Xxyy Syndrome	Abnormal shoulder morphology, Clinodactyly of the 5th finger, Thick lower lip vermilion, Broad ja...	ORPHA:10
Amyotrophic Lateral Sclerosis 28	Respiratory failure	OMIM:620452
2Q31.1 Microdeletion Syndrome	Sandal gap, Everted lower lip vermilion, Long philtrum, Abnormal fibula morphology, Abnormal tibi...	ORPHA:251014
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Short long bone, Hyperlordosis, Metaphyseal irregularity, Long philtrum, Joint hypermobility, Hip...	OMIM:616007
Roberts-Sc Phocomelia Syndrome	Radial deviation of finger, Wrist flexion contracture, Short humerus, Absent thumb, Syndactyly, N...	OMIM:268300
Oculocerebrofacial Syndrome, Kaufman Type	Retrognathia, Thin vermilion border, High, narrow palate, Short philtrum, Microdontia, Arachnodac...	ORPHA:2707
Thanatophoric Dysplasia, Type I	Platyspondyly, Short greater sciatic notch, Flared metaphysis, Wide-cupped costochondral junction...	OMIM:187600
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short nose, Hypoplasia of the maxilla, Micrognathia, Cleft palate, Malar flattening, Preaxial han...	ORPHA:79113
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Delayed pubic bone ossification, Limitation of knee mobility, Kyphosis, B...	OMIM:183900
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Clubbing, Hypoxemia, Respiratory tract i...	ORPHA:79127
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Absent phalangeal crease, Cleft palate, F...	OMIM:618469
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory insufficiency, Ventilator dependence with inability to wean, Recurrent pneumonia, Res...	ORPHA:254875
Mucopolysaccharidosis Type 4	Abnormal metaphysis morphology, Grayish enamel, Genu valgum, Reduced bone mineral density, Platys...	ORPHA:582
Interstitial Pneumonitis, Desquamative, Familial	Type II pneumocyte hypertrophy, Recurrent upper respiratory tract infections, Respiratory failure...	OMIM:263000
Lowry-Maclean Syndrome	Osteopenia, Retrognathia, High, narrow palate, Short nose, Craniosynostosis, Midgut malrotation, ...	ORPHA:2409
Orofacial Cleft 13	Retrognathia, Cleft soft palate, Oligodontia, Micrognathia, Malar flattening	OMIM:613857
Gm1-Gangliosidosis, Type Ii	Beaking of vertebral bodies, Platyspondyly, Gingival overgrowth, Scoliosis, Narrow mouth, Protrud...	OMIM:230600
Idiopathic Bronchiectasis	Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Clubbing, Re...	ORPHA:60033
3Mc Syndrome 2	Limited elbow movement, Caudal appendage, Abnormal vertebral morphology, Abnormality of the verte...	OMIM:265050
Eiken Syndrome	Delayed ossification of carpal bones, Eruption failure, Flat acetabular roof, Broad metatarsal, M...	OMIM:600002
Ruvalcaba Syndrome	Thin vermilion border, Clinodactyly of the 5th finger, Proximal placement of thumb, Abnormal vert...	ORPHA:3121
Presynaptic Congenital Myasthenic Syndromes	High palate, Congenital hip dislocation, Choking episodes, Arthrogryposis multiplex congenita, Re...	ORPHA:98914
Congenital Myasthenic Syndrome	High palate, Congenital hip dislocation, Choking episodes, Arthrogryposis multiplex congenita, Re...	ORPHA:590
Tetraploidy	Radial club hand, Short philtrum, Micrognathia, Cleft palate, Convex nasal ridge, Aplasia/Hypopla...	ORPHA:3305
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Polydactyly, Orofacial cleft, Short femur, Short humerus, Flexion contracture, Recurrent respirat...	ORPHA:17
Osteogenesis Imperfecta, Type Vii	Osteopenia, Rhizomelia, Crumpled long bones, Vertebral compression fracture, Femoral retroversion...	OMIM:610682
Beta-Mercaptolactate Cysteine Disulfiduria	Genu valgum, Sandal gap, Anteverted nares, High palate, Micromelia, Arachnodactyly, Joint hypermo...	ORPHA:1035
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Retrognathia, Short philtrum, Death in infancy, Camptodactyly of finger, Wide mouth, Flexion cont...	ORPHA:1194
3P25.3 Microdeletion Syndrome	Proximal placement of thumb, Broad thumb, Overlapping toe, Short philtrum, Anteverted nares, Clef...	ORPHA:435638
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Dislocated radial head, Cutis marmorata, Malrotation of colon, Long ...	OMIM:122470
Severe Congenital Nemaline Myopathy	Adducted thumb, Multiple prenatal fractures, Pulmonary hypoplasia, Dysphagia, Flexion contracture...	ORPHA:171430
Congenital Neuronal Ceroid Lipofuscinosis	Respiratory failure, Neonatal respiratory distress, Split hand, Wide nasal bridge	ORPHA:168486
Arthrogryposis, Distal, Type 5D	Hypermobility of distal interphalangeal joints, Limited elbow movement, Talipes equinovarus, Scol...	OMIM:615065
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Scoliosis, Femoral bowing, Osteoporosis, Carious teeth, Platyspondyly, Recurrent frac...	OMIM:126550
Esophageal Atresia	Abnormal vertebral morphology, Gastrointestinal carcinoma, Anorectal anomaly, Gastroesophageal re...	ORPHA:1199
Meier-Gorlin Syndrome 5	Slender long bone, Hypoplasia of the maxilla, Micrognathia, Hypoplasia of the capital femoral epi...	OMIM:613805
Lethal Acantholytic Erosive Disorder	Clinodactyly of the 5th finger, 4-5 finger syndactyly, Fragile skin, Camptodactyly of toe, Natal ...	ORPHA:158687
Hypertrichosis Cubiti	Joint hypermobility, Abnormality of the elbow, Rhizomelia, Micromelia	ORPHA:2220
Combined Oxidative Phosphorylation Deficiency 51	Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia	OMIM:619057
Arterial Tortuosity Syndrome	Rocker bottom foot, Arachnodactyly, Cardiorespiratory arrest, Joint hypermobility, Craniosynostos...	ORPHA:3342
Fanconi Anemia	Abnormal femur morphology, Reduced bone mineral density, Meckel diverticulum, Abnormality of the ...	ORPHA:84
Spondylometaphyseal Dysplasia, Pagnamenta Type	Short 4th metacarpal, Rhizomelia, Femoral bowing, Thoracic kyphosis, Broad thumb, Platyspondyly, ...	OMIM:619638
Ciliary Dyskinesia, Primary, 5	Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, Nasal polyposis, ...	OMIM:608647
Meier-Gorlin Syndrome 3	Patellar hypoplasia, Talipes equinovarus, Slender long bone, Absent sternal ossification, Aplasia...	OMIM:613803
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Ankle flexion contracture, Cyanotic episode, Bilateral talipes equinovarus, Short neck, Micrognat...	ORPHA:284417
Roberts Syndrome	Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,...	ORPHA:3103
Fanconi Anemia, Complementation Group U	Hypoplasia of the radius, Absent scaphoid, Aplasia of the 1st metacarpal, Absent thumb, Absent ra...	OMIM:617247
Oculomaxillofacial Dysostosis	Tessier cleft, Abnormality of the nose, Underdeveloped nasal alae, Abnormality of the dentition, ...	ORPHA:1794
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Kyphosis, Bifid uvula, Symphalangism affecting the phalanges of the h...	ORPHA:2658
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Platyspondyly, Small epiphyses, Cran...	OMIM:616723
Acrofrontofacionasal Dysostosis	Non-midline cleft of the upper lip, Dimple on nasal tip, High palate, Abnormal epiphysis morpholo...	ORPHA:1784
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Oral-pharyngeal dysphagia, Bicoronal synostosis, Dental crowding, Oligodontia, ...	OMIM:619184
Ciliary Dyskinesia, Primary, 21	Atelectasis, Recurrent pneumonia, Bronchiectasis, Neonatal respiratory distress, Chronic sinusitis	OMIM:615294
Acrofacial Dysostosis 1, Nager Type	Retrognathia, Radial deviation of finger, Temporomandibular joint ankylosis, Absent thumb, Wide m...	OMIM:154400
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Mandibular prognathia, Broad thumb, Mesomelia, Brachydactyly, Joint hypermobility, Sh...	ORPHA:171866
Stickler Syndrome, Type Ii	High, narrow palate, Anteverted nares, Arachnodactyly, Micrognathia, Bifid uvula, Long fingers, M...	OMIM:604841
Ehlers-Danlos Syndrome, Classic-Like, 2	Cervical C2/C3 vertebral fusion, Facet joint arthrosis, Bruising susceptibility, Joint hypermobil...	OMIM:618000
Gorlin-Chaudhry-Moss Syndrome	Abnormal metacarpal morphology, Oligodontia, Abnormality of the dentition, Hypoplasia of the maxi...	ORPHA:2095
Image Syndrome	Metaphyseal dysplasia, Micromelia	ORPHA:85173
Hypertelorism, Microtia, Facial Clefting Syndrome	Tessier cleft, Abnormal vertebral morphology, Abnormality of the vertebral column, 2-3 toe syndac...	OMIM:239800
Hamel Cerebro-Palato-Cardiac Syndrome	Narrow mouth, Death in infancy, Arachnodactyly, Micrognathia, Cleft palate, Malar flattening, Bul...	ORPHA:93946
Acute Interstitial Pneumonia	Atelectasis, Pleural effusion, Bronchiectasis, Respiratory failure, Hypoxemia, Interlobular septa...	ORPHA:79126
Nablus Mask-Like Facial Syndrome	Retrognathia, Sandal gap, Everted lower lip vermilion, Long philtrum, Craniosynostosis, Clinodact...	OMIM:608156
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal thumb morphology, Long foot, Spina bifida occulta, Tibial bowing, Abnormal femoral torsi...	ORPHA:500095
Craniofacial Dyssynostosis With Short Stature	Brachycephaly, Hydrocephalus, Brachyturricephaly, Short stature, Frontal bossing, Abnormal shape ...	OMIM:218350
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density	OMIM:241520
Ear-Patella-Short Stature Syndrome	Retrognathia, High, narrow palate, Clinodactyly of the 5th finger, Joint hypermobility, Slender l...	ORPHA:2554
4Q21 Microdeletion Syndrome	Thin vermilion border, Short philtrum, Scoliosis, Abnormality of the dentition, Kyphosis, Microme...	ORPHA:238750
Seckel Syndrome 5	Retrognathia, Clinodactyly of the 5th finger, 11 pairs of ribs, Oligodontia, Selective tooth agen...	OMIM:613823
Ivic Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Synostosis of carpal bones, Joint stiffness, Short...	ORPHA:2307
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous clef...	OMIM:192445
Acropectorovertebral Dysplasia	High, narrow palate, Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of car...	ORPHA:957
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Aplasia/Hypoplasia of the distal phalanges of the hand, Short philtrum, Mandibular prognathia, Ec...	ORPHA:94066
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Stillbirth, Clinodactyly of the 5th finger, Narrow nasal ridge, 2-3 toe syndactyly, Anteverted na...	OMIM:236500
Dyschondrosteosis-Nephritis Syndrome	Madelung deformity, Ulnar bowing, Micromelia, Aplasia/Hypoplasia of the radius, Radial bowing	ORPHA:1765
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure, Tongue atrophy	OMIM:613435
Autosomal Dominant Spondylocostal Dysostosis	Spina bifida occulta, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Missing ribs, Abno...	ORPHA:1797
Keutel Syndrome	Cartilaginous ossification of nose, Emphysema, Premature fusion of phalangeal epiphyses, Short ha...	OMIM:245150
Orofaciodigital Syndrome Iii	Supernumerary tooth, Postaxial hand polydactyly, Microdontia, Kyphosis, Short sternum, Bifid uvul...	OMIM:258850
Multiple Mitochondrial Dysfunctions Syndrome 3	Retrognathia, Respiratory insufficiency, High palate, Respiratory failure, Arthrogryposis multipl...	OMIM:615330
Typical Nemaline Myopathy	Nocturnal hypoventilation, Spinal rigidity, Genu valgum, Scoliosis, Hyperlordosis, High palate, K...	ORPHA:171436
Infant Acute Respiratory Distress Syndrome	Pulmonary edema, Atelectasis, Hypoxemia, Respiratory tract infection, Pneumonia, Respiratory fail...	ORPHA:70587
Panner Disease	Limited elbow extension, Limited elbow movement, Stiff elbow, Irregular articular surfaces of the...	ORPHA:97336
Rapadilino Syndrome	High, narrow palate, Slender nose, Aplasia/Hypoplasia of the patella, High palate, Cleft palate, ...	OMIM:266280
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Thick lower lip vermilion, Clinodactyly of the 5th finger, Joint contracture of the 5th finger, P...	OMIM:614407
Recon Progeroid Syndrome	Thin vermilion border, Progeroid facial appearance, Proximal placement of thumb, Cutaneous photos...	OMIM:620370
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Respiratory insufficiency, Limitation of joint mobility, Micromel...	ORPHA:93274
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Abnormal columella morphology, Abnormal finger morphology, Underdeveloped na...	ORPHA:436003
Hartsfield Syndrome	Respiratory insufficiency, Non-midline cleft of the upper lip, Split hand, Cleft palate, Aplasia/...	ORPHA:2117
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Fused cervical vertebrae, Abnormal hip bone morphology, Hyperlordosis, Abnormal rib morphology, K...	ORPHA:2522
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Clinodactyly of the 5th finger, Anteverted nares, Hypoplasia of the maxilla, Thick vermilion bord...	ORPHA:228396
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxilla, Micrognath...	OMIM:616367
Mitochondrial Complex I Deficiency, Nuclear Type 18	Respiratory failure, Wide anterior fontanel, Death in infancy	OMIM:618240
Temtamy Preaxial Brachydactyly Syndrome	Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Talon cusp, Microdontia,...	OMIM:605282
Osteogenesis Imperfecta, Type Xiii	Kyphoscoliosis, Thin vermilion border, Reduced bone mineral density, Limitation of knee mobility,...	OMIM:614856
Ritscher-Schinzel Syndrome 1	Brachycephaly, Prominent occiput, Hydrocephalus, Aortic valve stenosis, Pulmonic stenosis, Tetral...	OMIM:220210
Craniosynostosis 2	Supernumerary tooth, Triphalangeal thumb, Cleft soft palate, Unicoronal synostosis, Bicoronal syn...	OMIM:604757
Camurati-Engelmann Disease	Anorexia, Abnormal subcutaneous fat tissue distribution, Abnormal femur morphology, Abnormal tibi...	ORPHA:1328
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Abnormal dental enamel mor...	ORPHA:2916
Abruzzo-Erickson Syndrome	Cleft palate, Radioulnar synostosis	OMIM:302905
Andersen-Tawil Syndrome	Clinodactyly of the 5th toe, Abnormality of dental color, Dental crowding, 2-3 toe syndactyly, Ol...	ORPHA:37553
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Platyspondyly, Rhizomelia, Flared metaphysis, Scoliosis, Short long...	ORPHA:85167
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Craniosynostosis, Brachycephaly	OMIM:612247
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Retrognathia, Anteverted nares, Single transverse palmar crease, Exaggerated cupid's bow, Wrist f...	ORPHA:254528
Gillessen-Kaesbach-Nishimura Syndrome	Narrow greater sciatic notch, Retrognathia, Wide anterior fontanel, Short long bone, Decreased sk...	OMIM:263210
Acrofacial Dysostosis, Catania Type	Spina bifida occulta, Single transverse palmar crease, Carious teeth, Micrognathia, Short palm, C...	OMIM:101805
Becker Nevus Syndrome	Abnormal tibia morphology, Spina bifida occulta, Scoliosis, Kyphosis, Micromelia, Lower limb asym...	ORPHA:64755
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Abnormal rib morphology, Hypoplastic distal segments of scapulae, Micrognathia, Pierre-Robin sequ...	OMIM:602196
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Scoliosis, Osteoporosis, Coxa vara, Coxa valga, Joint hypermobility, Pes planus, B...	OMIM:619131
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla, Widely-spaced incisors, Smooth philtrum, Bulbous nose, Thin upper lip ...	OMIM:618737
Al-Gazali Syndrome	Osteopenia, Broad distal phalanx of finger, Bowed humerus, Proximal radio-ulnar synostosis, Wrist...	OMIM:609465
Larsen-Like Syndrome, Lethal Type	Respiratory insufficiency, Neonatal death, Abnormal cartilage matrix, Tracheomalacia	OMIM:245650
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Abnormal form of the vertebral bodies, Dislocated radial head, H...	ORPHA:2839
Hereditary Motor And Sensory Neuropathy, Type Iic	Proximal upper limb amyotrophy, Pes cavus, Distal lower limb muscle weakness, Proximal muscle wea...	OMIM:606071
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Dental crowding, Elbow flexion contracture, High palate, Shoulder gird...	ORPHA:2020
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Shprintzen-Goldberg Syndrome	Abnormal metaphysis morphology, Retrognathia, High, narrow palate, Genu valgum, Osteopenia, Gastr...	ORPHA:2462
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Clubbing, Pleural effusion, ...	OMIM:612387
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia	OMIM:165590
Bronchopulmonary Dysplasia	Respiratory failure requiring assisted ventilation, Emphysema, Atelectasis, Tracheobronchomalacia...	ORPHA:70589
Weill-Marchesani Syndrome 1	Narrow palate, Broad phalanges of the hand, Tooth malposition, Scoliosis, Broad metacarpals, Broa...	OMIM:277600
Crane-Heise Syndrome	Finger syndactyly, Decreased skull ossification, Abnormally ossified vertebrae, Joint stiffness, ...	ORPHA:1512
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Long nose, Limited elbow movement, Enlarged metaphyses, Short metac...	ORPHA:508533
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Non-midline cleft of the upper lip, Mandibula...	ORPHA:1908
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Short philtrum, Wide nose, Anteverted nares, High palate, Narrow mouth, Pyloric stenosis, Microgn...	ORPHA:96184
Zechi-Ceide Syndrome	Thin vermilion border, Short metatarsal, Short philtrum, Sandal gap, Wide nose, Mandibular progna...	ORPHA:217017
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in childhood, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory fail...	OMIM:245400
Birk-Barel Syndrome	Sacral dimple, Short philtrum, High palate, Reduced subcutaneous adipose tissue, Bifid uvula, Sub...	OMIM:612292
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the toes, Cone-shaped epiphyses of the phalanges of the hand, Hyperlordosis, F...	OMIM:226980
Abruzzo-Erickson Syndrome	Abnormal palate morphology, Cleft palate, Short toe, Malar flattening, Brachydactyly, Radioulnar ...	ORPHA:921
Aicardi Syndrome	Butterfly vertebrae, Intestinal polyposis, Short philtrum, Gastroesophageal reflux, Scoliosis, Mi...	ORPHA:50
Cerebrofacioarticular Syndrome	Osteopenia, Caudal appendage, Anal stenosis, Bilateral choanal atresia/stenosis, Tracheomalacia, ...	ORPHA:314679
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
49,Xxxxy Syndrome	Abnormal epiphysis morphology, Joint hypermobility, Coxa valga, Hip dislocation, Taurodontia, Car...	ORPHA:96264
Temple Syndrome	Short philtrum, Wide nose, Anteverted nares, High palate, Micrognathia, Bifid uvula, Clinodactyly...	OMIM:616222
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Calf muscle hypertrophy, Achilles tendon contracture, Thigh hypertrophy, Respiratory failure, Mac...	OMIM:606612
Cleidocranial Dysplasia 1	Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Cone-shaped epiphyses of the p...	OMIM:119600
Cutis Laxa, Autosomal Recessive, Type Iic	Dental crowding, Long philtrum, Overlapping toe, Joint hypermobility, Anteverted nares, Camptodac...	OMIM:617402
Stickler Syndrome	Reduced bone mineral density, Glossoptosis, Tooth agenesis, Arachnodactyly, Bifid uvula, Long phi...	ORPHA:828
Gm1 Gangliosidosis	Abnormal metaphysis morphology, Long philtrum, Abnormal diaphysis morphology, Mandibular prognath...	ORPHA:354
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia, Bowing of the legs	ORPHA:89937
Native American Myopathy	Gastroesophageal reflux, Talipes equinovarus, High palate, Camptodactyly, Congenital contracture,...	ORPHA:168572
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Respiratory failure, Epiphyseal stippling	OMIM:614862
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Scoliosis, Anal atresia, Short middle phalanx of finger, Thoracic hemiv...	OMIM:309620
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Rocker bottom foot, Lambdoidal craniosynostosis, Ulnar bowing, Wide anterior fontanel, Femoral bo...	OMIM:207410
Kinsship Syndrome	Dislocated radial head, Death in infancy, Mesomelia, Wide mouth, Cervical ribs, Coxa valga, Hip d...	OMIM:619297
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Arachnodactyly, Emphysema, Hip dislocation	OMIM:614100
Crouzon Syndrome	Narrow palate, Respiratory insufficiency, Choanal atresia, Multiple suture craniosynostosis, Hypo...	ORPHA:207
Myhre Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Short long bone, Joint stiffness, Overlapping...	OMIM:139210
Microphthalmia, Syndromic 8	Orofacial cleft, Premature skin wrinkling, Mandibular prognathia, Split foot, Cleft upper lip, Cl...	OMIM:601349
Craniosynostosis 6	Brachycephaly, Plagiocephaly, Turricephaly, Spina bifida occulta, Bicoronal synostosis, Parietal ...	OMIM:616602
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Post...	OMIM:263520
Momo Syndrome	Abnormal bone ossification, Thick lower lip vermilion, Long foot, Delayed eruption of teeth, Femo...	ORPHA:2563
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Retrognathia, Short nose, Recurrent lower respiratory tract infections, High palate, ...	OMIM:618005
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Generalized abnormality of skin, Osteopenia, Atelectasis, Delayed eruption of teeth, Recurrent fr...	ORPHA:2314
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Widely spaced teeth, Fractures of the long bo...	ORPHA:496641
Scedosporiosis	Abnormal jejunum morphology, Pleuritis, Bronchitis, Pleural empyema, Sinusitis, Arthralgia/arthri...	ORPHA:449280
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Death in childhood, Chylothorax, Mandibular prognathia, High palate, Death in infancy, Joint cont...	OMIM:620278
Lethal Congenital Contracture Syndrome 10	Narrow palate, Stiff neck, Talipes equinovarus, Short long bone, Femoral bowing, High palate, Sho...	OMIM:617022
Orofaciodigital Syndrome Type 4	Retrognathia, Abnormal oral frenulum morphology, Bifid uvula, Genu varum, Short philtrum, Perinea...	ORPHA:2753
Congenital Myopathy 10B, Mild Variant	High palate, Recurrent pneumonia, Cleft palate, Dysphagia, Achilles tendon contracture, Respirato...	OMIM:620249
Rothmund-Thomson Syndrome Type 2	Long nose, Aplasia/hypoplasia involving bones of the upper limbs, Short metacarpal, Microdontia, ...	ORPHA:221016
Bartsocas-Papas Syndrome 1	Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Absent thumb, Syndactyly, Absent palmar c...	OMIM:263650
C1Q Deficiency 2	Facial erythema, Atelectasis, Recurrent lower respiratory tract infections, Oral ulcer, Arthritis...	OMIM:620321
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal metaphysis morphology, Retrognathia, Clinodactyly of the 5th finger, Hypoplastic iliac w...	ORPHA:2637
Meier-Gorlin Syndrome 6	Short nose, Emphysema, Sandal gap, Anteverted nares, Underdeveloped nasal alae, Tracheobronchomal...	OMIM:616835
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Respiratory failure, Death in infancy	OMIM:616277
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Elsahy-Waters Syndrome	Cervical C2/C3 vertebral fusion, Bifid nasal tip, Bifid uvula, Broad philtrum, Abnormality of the...	OMIM:211380
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Brachycephaly, Plagiocephaly, Flat occiput	ORPHA:2898
Cree Mental Retardation Syndrome	Rocker bottom foot, Cleft soft palate, Cutaneous finger syndactyly, Micrognathia, Aplasia/Hypopla...	OMIM:606851
Ulnar-Mammary Syndrome	Aplasia of the pectoralis major muscle, Abnormality of the wrist, Abnormal metacarpal morphology,...	ORPHA:3138
Proximal Spinal Muscular Atrophy	Distal upper limb muscle weakness, Multiple joint contractures, Elbow flexion contracture, Tricep...	ORPHA:70
Wiedemann-Rautenstrauch Syndrome	Retrognathia, Short humerus, Hypoplastic vertebral bodies, Joint hypermobility, Long toe, Short p...	ORPHA:3455
Pitt-Hopkins Syndrome	Narrow foot, Wide mouth, Aganglionic megacolon, Short philtrum, Tooth malposition, Scoliosis, Acr...	ORPHA:2896
48,Xxxy Syndrome	Clinodactyly of the 5th finger, Talipes equinovarus, Delayed eruption of teeth, Abnormal dental e...	ORPHA:96263
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Retrognathia, Rectal prolapse, Death in childhood, Emphysema, Atelectasis, Sandal gap...	OMIM:613177
Boomerang Dysplasia	Absent radius, Fibular aplasia, Hypoplastic iliac body	OMIM:112310
Larsen Syndrome	Broad distal phalanx of finger, Craniosynostosis, Finger syndactyly, Scoliosis, Laryngotracheomal...	ORPHA:503
Pyknoachondrogenesis	Short iliac bones, Craniofacial hyperostosis, Abnormality of mouth shape, Abnormal iliac wing mor...	ORPHA:3003
Neu-Laxova Syndrome	Rickets, Retrognathia, Osteopenia, Broad foot, Abnormality of the philtrum, Scoliosis, Everted lo...	ORPHA:2671
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Coronal craniosynostosis, Micrognathia, Malar flattening, Choanal sten...	OMIM:241310
Schwartz-Jampel Syndrome	Spinal rigidity, Flexion contracture of toe, Hyperlordosis, Everted lower lip vermilion, Wrist fl...	ORPHA:800
Intellectual Developmental Disorder, Autosomal Dominant 70	Retrognathia, Retinal telangiectasia, Low hanging columella, Mandibular prognathia, Hypoplasia of...	OMIM:620157
Multiple Pterygium Syndrome, X-Linked	Short finger, Thin ribs, Cleft upper lip, Micrognathia, Cleft palate, Flexion contracture, Abnorm...	OMIM:312150
Saethre-Chotzen Syndrome	Long nose, Partial duplication of the distal phalanx of the 2nd finger, Partial duplication of th...	OMIM:101400
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Brachycephaly, Craniosynostosis, Thickened calvaria	ORPHA:178377
Acrocraniofacial Dysostosis	Advanced eruption of teeth, Genu valgum, Triphalangeal thumb, Abnormal hip bone morphology, Spina...	ORPHA:949
Pelviscapular Dysplasia	Elbow flexion contracture, Abnormality of the joint spaces of the elbow, Hypoplastic ilia, Congen...	ORPHA:93333
Postsynaptic Congenital Myasthenic Syndromes	Scoliosis, Thoracic kyphoscoliosis, High palate, Cyanosis	ORPHA:98913
Marshall-Smith Syndrome	Short mandibular rami, Retrognathia, Kyphoscoliosis, Prominent fingertip pads, Glossoptosis, Micr...	OMIM:602535
Microcephaly-Microcornea Syndrome, Seemanova Type	Growth delay, Brachycephaly, Short stature	ORPHA:2528
Global Developmental Delay With Or Without Impaired Intellectual Development	Plagiocephaly, Short stature, Frontal bossing, Atrial septal defect, Ventricular septal defect	OMIM:618330
Autosomal Recessive Robinow Syndrome	Abnormal hip bone morphology, Sandal gap, Kyphosis, Death in infancy, Broad thumb, Mesomelia, Wid...	ORPHA:1507
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Femoral bowing, Biconcave flattened vertebrae, Dentinogenesis imperfect...	OMIM:166200
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Atelectasis, Chronic sinusitis	OMIM:300455
Rubinstein-Taybi Syndrome 1	Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Den...	OMIM:180849
Branchioskeletogenital Syndrome	Upper limb peromelia, Bifid uvula, Craniosynostosis, Abnormality of the vertebral spinous process...	ORPHA:1299
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Brachycephaly, Occipital encephalocele, Craniosynostosis	OMIM:614416
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Wide nasal bridge, Depressed nasal bridge	OMIM:167730
Hypophosphatasia, Adult	Rickets, Abnormal foot morphology, Pathologic fracture, Osteomalacia, Recurrent fractures, Increa...	OMIM:146300
Ichthyosis, Congenital, Autosomal Recessive 4B	Short finger, Neonatal death, Everted lower lip vermilion, Death in infancy	OMIM:242500
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Recurrent sinusitis, Joint hypermobility, Craniosynostosis, Overlapping toe, Anteverted nares, Po...	OMIM:213980
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Broad thumb, Cleft upper lip, Cleft palate, Bro...	OMIM:600987
Axial Mesodermal Dysplasia Spectrum	Anorectal anomaly, Abnormal form of the vertebral bodies, Abnormal gastrointestinal tract morphol...	ORPHA:1834
Barber-Say Syndrome	Thin vermilion border, Widely spaced teeth, Clinodactyly of the 5th finger, Premature skin wrinkl...	OMIM:209885
Cog1-Cdg	Osteopenia, Kyphoscoliosis, Butterfly vertebrae, Rhizomelia, Talipes equinovarus, Short long bone...	ORPHA:263508
Frontorhiny	Midline nasal groove, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Camptodactyly of fi...	ORPHA:391474
Pulmonary Alveolar Microlithiasis	Pneumothorax, Pleural thickening, Clubbing of fingers, Respiratory insufficiency, Bronchitis, Sti...	ORPHA:60025
Treacher-Collins Syndrome	Retrognathia, Glossoptosis, Tracheoesophageal fistula, Tooth agenesis, Wide mouth, Multiple encho...	ORPHA:861
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Mesomelia, Syndactyly, Long philtrum, Clinodactyly, Triangular mouth, Anteverted nar...	OMIM:616894
Osteogenesis Imperfecta, Type Iv	Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Otosclero...	OMIM:166220
Paget Disease Of Bone 2, Early-Onset	Vertebral compression fracture, Sandwich appearance of vertebral bodies, Premature loss of teeth,...	OMIM:602080
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Short tibia, Talipes equinovarus	OMIM:620306
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Increased susceptibility to fractures, Osteopenia, Kyphoscoliosis, Platyspondyly, Talipes equinov...	OMIM:615349
Fanconi Anemia, Complementation Group W	Hypoplasia of the radius, Abnormal radial ray morphology, Absent thumb	OMIM:617784
Ullrich Congenital Muscular Dystrophy 1A	Nocturnal hypoventilation, Spinal rigidity, Distal joint hypermobility, Scoliosis, High palate, I...	OMIM:254090
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Reduced bone mineral density, Hypophosphatemic rickets, Osteomalacia, Pathologic fracture, Bowing...	ORPHA:157215
Marden-Walker Syndrome	High, narrow palate, Wide anterior fontanel, Anteverted nares, High palate, Narrow mouth, Camptod...	OMIM:248700
Intellectual Developmental Disorder, Autosomal Dominant 73	Retrognathia, Hyperlordosis, Everted lower lip vermilion, Kyphosis, Prominent interphalangeal joi...	OMIM:620450
Burn-Mckeown Syndrome	Thin vermilion border, Bilateral choanal atresia, Bilateral choanal atresia/stenosis, Short philt...	OMIM:608572
Adenylosuccinate Lyase Deficiency	Brachycephaly, Flat occiput	ORPHA:46
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Wide nose, Depressed nasal tip, Hypoplasia of the maxilla, Recurr...	ORPHA:2399
Hydrolethalus	Retrognathia, Gingival cleft, Postaxial hand polydactyly, Micromelia, Micrognathia, Bifid uvula, ...	ORPHA:2189
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Broad distal phalanx of finger, Anteverted nares, 2-3 toe syndactyly, Attention deficit hyperacti...	ORPHA:404440
Amish Lethal Microcephaly	Cleft soft palate, Limitation of joint mobility, Decreased skull ossification, Osteoporosis, Deat...	ORPHA:99742
Singleton-Merten Syndrome 1	Eruption failure, Short dental root, Expanded phalanges with widened medullary cavities, Coxa val...	OMIM:182250
Coloboma Of Macula And Skeletal Anomalies	Genu valgum, Contracture of the distal interphalangeal joint of the 5th finger, Cleft palate, Hal...	OMIM:216800
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius	OMIM:179400
Otopalatodigital Syndrome Type 2	Glossoptosis, Flared iliac wing, Hypoplastic frontal sinuses, Anodontia, Fibular aplasia, Tarsal ...	ORPHA:90652
Pentasomy X	Delayed puberty, Plagiocephaly, Short stature, Abnormal cardiac septum morphology	ORPHA:11
Stüve-Wiedemann Syndrome	Flexion contracture of finger, Sacral dimple, Scoliosis, Elbow flexion contracture, Abnormality o...	ORPHA:3206
Recurrent Respiratory Papillomatosis	Atelectasis, Tracheomalacia, Respiratory insufficiency, Choking episodes, Abnormal lung morpholog...	ORPHA:60032
Weill-Marchesani Syndrome 2	Narrow palate, Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the...	OMIM:608328
Cowden Syndrome 5	Scoliosis, High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hypoplasia of the...	OMIM:615108
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Atelectasis, ...	ORPHA:254361
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Postnatal growth retardation, Brachycephaly	OMIM:309545
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Clubbing, Intraalveolar phospholipid accumulation, Hypoxemia, Cyanosis	ORPHA:747
Braddock-Carey Syndrome 2	Retrognathia, Cleft palate, Pierre-Robin sequence, Wide mouth, Bulbous nose, Clinodactyly	OMIM:619981
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Retrognathia, Slender long bone, Thin ribs, Decreased calvarial ossification, Micrognathia, Cleft...	OMIM:618265
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Pes planus, Broad distal phalanx of finger, Clinodactyly of the 5th finger, Cleft hard palate, Ta...	OMIM:300990
Ellis-Van Creveld Syndrome	Genu valgum, Talipes equinovarus, Delayed eruption of teeth, Hypoplastic iliac wing, Abnormal alv...	OMIM:225500
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Joint hypermobility, Recurrent fractures, Decreased calvarial ossification, Micromelia	ORPHA:2772
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Pulmonary capillary hemangiomatosis, Clubbing of fingers, Abnormal pulmonary vei...	ORPHA:199241
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Finger syndactyly, Hypodontia, Adactyly, Split hand, High palate, ...	ORPHA:989
Lacrimoauriculodentodigital Syndrome 1	Microdontia, Bilateral triphalangeal thumbs, Absent radius, Delayed eruption of primary teeth, Hy...	OMIM:149730
Ellis Van Creveld Syndrome	Thin vermilion border, Genu valgum, Emphysema, Cubitus valgus, Delayed eruption of teeth, Conical...	ORPHA:289
Robinow Syndrome, Autosomal Dominant 1	Retrognathia, Radial deviation of finger, Dislocated radial head, Dental crowding, Short long bon...	OMIM:180700
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormality of the vertebral column, Hypoplasia of the maxilla, Malar flattening, Coxa valga, Hip...	OMIM:109120
Pyruvate Dehydrogenase E1-Alpha Deficiency	Anteverted nares, Flared nostrils, Long philtrum, Respiratory failure, Wide nasal bridge	OMIM:312170
Pallister-Hall Syndrome	Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly, Hip dislo...	OMIM:146510
Coffin-Lowry Syndrome	Short metacarpal, Everted lower lip vermilion, Kyphosis, Cutis marmorata, Coxa valga, Narrow pala...	OMIM:303600
Melanocytic Nevus Syndrome, Congenital	Short nose, Narrow nasal ridge, Anteverted nares, Everted lower lip vermilion, Broad nasal tip, O...	OMIM:137550
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory failure, Jaundice, Slender finger	OMIM:250940
Dystonia-Deafness Syndrome 1	Kyphoscoliosis, Femoral retroversion, Cleft upper lip, Cleft palate, Dysphagia, Achalasia, Hypopl...	OMIM:607371
Short Stature-Micrognathia Syndrome	Retrognathia, Rhizomelia, Gastroesophageal reflux, 2-3 toe syndactyly, High palate, Broad femoral...	OMIM:617164
Mosaic Trisomy 16	Abnormality of the nose, Meckel diverticulum, Single transverse palmar crease, Abnormal lung morp...	ORPHA:1708
Diaphanospondylodysostosis	Absent in utero rib ossification, Short nose, Hammertoe, Tracheomalacia, Respiratory insufficienc...	OMIM:608022
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal shoulder morphology, Short metacarpal, Abnormal pelvic girdle bone morphology, Micromeli...	ORPHA:1422
Dubowitz Syndrome	Sandal gap, Broad thumb, Cutis marmorata, Wide mouth, Abnormality of thumb phalanx, Joint hypermo...	ORPHA:235
Congenital Fibrinogen Deficiency	Cyanosis, Clubbing of fingers, Gingival bleeding, Volvulus, Bruising susceptibility, Subcutaneous...	ORPHA:335
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Clinodactyly of the 5th finger, Short philtrum, Oligodontia, Everted lower...	OMIM:609460
German Syndrome	Brachycephaly, Lymphedema, Short stature, Dolichocephaly, Tetralogy of Fallot, Abnormal cardiac s...	ORPHA:2077
Tracheobronchopathia Osteochondroplastica	Atelectasis, Respiratory insufficiency, Bronchitis, Esophagitis, Recurrent pneumonia, Calcificati...	ORPHA:3348
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Widely spaced teeth, Bilateral choanal atresia, Palmoplantar keratoderma, Conical tooth, 2-3 toe ...	OMIM:106260
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Narrow palate, Tapered toe, Long toe, Respiratory insufficiency, Elbow flexion contracture, High ...	OMIM:608836
Fetal Akinesia Deformation Sequence	Respiratory insufficiency, Intestinal hypoplasia, Arthrogryposis multiplex congenita, Camptodacty...	ORPHA:994
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Hip subluxation, Cranial hyperostosis, Osteopetrosis, Flared metaphysis, Increased bo...	OMIM:259720
Xylt1-Cdg	Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Cleft palate, Thick vermilion b...	ORPHA:370930
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Purpura, Clinodactyly of the 5th finger, Ulnar bowing, Petechiae, Proximal radio-ulnar synostosis...	OMIM:605432
Frank-Ter Haar Syndrome	Kyphoscoliosis, Broad alveolar ridges, Short long bone, Kyphosis, Wide mouth, Camptodactyly, Oste...	OMIM:249420
Developmental And Epileptic Encephalopathy 89	Death in childhood, Anteverted nares, Cleft palate, Limb undergrowth, Depressed nasal bridge, Mic...	OMIM:619124
Neurogenic Arthrogryposis Multiplex Congenita	Plagiocephaly, Abnormal heart morphology, Oligohydramnios, Scaphocephaly	ORPHA:1143
Say Syndrome	Ulnar deviation of the 3rd finger, Micrognathia, Cleft palate, Short distal phalanx of finger, Ta...	OMIM:181180
Myotubular Myopathy With Abnormal Genital Development	Retrognathia, Atelectasis, High palate, Death in infancy, Neonatal death, Joint hypermobility	OMIM:300219
Desmosterolosis	Abnormality of the nose, Retrognathia, Short nose, Osteopetrosis, Increased bone mineral density,...	ORPHA:35107
Staphylococcal Necrotizing Pneumonia	Pneumothorax, Pulmonary pneumatocele, Acute infectious pneumonia, Pleural empyema, Pleural effusi...	ORPHA:36238
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Calf muscle hypertrophy, Scapular winging, Achilles tendon contracture, Respiratory failure, Shou...	OMIM:603689
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Retrognathia, Butterfly vertebrae, Fused cervical vertebrae, Esophageal atresia, Spina bifida occ...	OMIM:619227
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Scoliosis, Abnormal rib morphology, Cleft palate, Short neck, Ab...	OMIM:118100
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Sho...	OMIM:250220
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Emphysema, Genu valgum, Lung adenocarcinoma, Pulmonary fibrosis	OMIM:618913
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Short finger, Tapered finger, Acrocyanosis	ORPHA:1867
Verheij Syndrome	Retrognathia, Short nose, Joint hypermobility, Anteverted nares, Branchial cyst, Thin upper lip v...	OMIM:615583
X-Linked Intellectual Disability, Porteous Type	Hypoplasia of the maxilla, Mandibular prognathia, Bulbous nose, Short philtrum	ORPHA:93945
Pneumocystosis	Respiratory failure requiring assisted ventilation, Acute infectious pneumonia, Respiratory insuf...	ORPHA:723
Momo Syndrome	Long foot, Thick lower lip vermilion, Delayed eruption of teeth, High palate, Short sternum, Cuti...	OMIM:157980
Congenital Myopathy 17	Overlapping fingers, Respiratory insufficiency, Mandibular prognathia, Tapered finger, High palat...	OMIM:618975
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Dpm1-Cdg	High, narrow palate, Sandal gap, Knee flexion contracture, Camptodactyly, Long hallux, Micrognath...	ORPHA:79322
Congenital Disorder Of Glycosylation, Type Iib	Hypoventilation, Retrognathia, Recurrent fractures, High palate, Hand clenching, Thoracic scolios...	OMIM:606056
Osteogenesis Imperfecta	Intestinal obstruction, Abnormal femur morphology, Reduced bone mineral density, Abnormal hip bon...	ORPHA:666
Cowden Syndrome 6	Scoliosis, High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hypoplasia of the...	OMIM:615109
Distal 22Q11.2 Microdeletion Syndrome	Sandal gap, Arachnodactyly, Short distal phalanx of finger, Joint hypermobility, Coxa valga, Choa...	ORPHA:261330
Hypophosphatemic Rickets, Autosomal Dominant	Rickets, Abnormality of the lower limb, Hypophosphatemic rickets, Osteomalacia	OMIM:193100
Holt-Oram Syndrome	Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Abnormality o...	ORPHA:392
Chromosome 15Q11.2 Deletion Syndrome	Short finger, Single transverse palmar crease, Compulsive behaviors, Slender finger, Irregular de...	OMIM:615656
Dravet Syndrome	Obsessive-compulsive trait, Cyanotic episode, Limited knee extension, Impulsivity, Tibial torsion	ORPHA:33069
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Spondylolisthesis, Mandibular prognathia, Short long bone, Short ribs, Sp...	OMIM:252600
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Short stature, Brachycephaly	OMIM:300699
Stevenson-Carey Syndrome	Gastroesophageal reflux, Scoliosis, Narrow mouth, Camptodactyly, Downturned corners of mouth, Pie...	OMIM:611961
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Chronic rhinitis...	OMIM:616726
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly	ORPHA:35099
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Anteverted nares, Everted lower lip vermilion, Camptodactyly, Ename...	OMIM:619980
Acute Lung Injury	Abnormal pulmonary interstitial morphology, Respiratory failure, Hypoxemia, Addictive alcohol use...	ORPHA:178320
Non-Distal Duplication 10Q	Short stature, Frontal bossing, Brachycephaly	ORPHA:1695
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Scoliosis, Femoral bowing, Recurrent fractures, Increased susceptibility to fractures	OMIM:615066
Pfeiffer Syndrome Type 2	Short nose, Deviation of the thumb, Short hallux, Finger syndactyly, Tracheomalacia, High palate,...	ORPHA:93259
Chand Syndrome	Atelectasis, Agenesis of maxillary incisor, Short fifth metatarsal, Abnormal oral frenulum morpho...	ORPHA:1401
Oculoauriculovertebral Spectrum With Radial Defects	Short mandibular rami, Orofacial cleft, Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Non...	ORPHA:2549
Schilbach-Rott Syndrome	Long nose, 2-3 toe cutaneous syndactyly, Narrow mouth, Prominent nose, Attention deficit hyperact...	OMIM:164220
Congenital Multicore Myopathy With External Ophthalmoplegia	Joint hypermobility, High palate, Tented upper lip vermilion, Flexion contracture, Pneumonia, Res...	ORPHA:98905
Charge Syndrome	Anosmia, Absent tibia, Tracheoesophageal fistula, Abnormal palmar dermatoglyphics, Dysphagia, Bif...	OMIM:214800
Paternal Uniparental Disomy Of Chromosome 5	Polyhydramnios, Posterior plagiocephaly, Secundum atrial septal defect, Rhizomelic arm shortening	ORPHA:96190
Rothmund-Thomson Syndrome Type 1	Short metacarpal, Microdontia, Tooth agenesis, Genu varum, Telangiectasia, Finger symphalangism, ...	ORPHA:221008
Opsismodysplasia	Long philtrum, Rhizomelia, Metaphyseal cupping, Hypoplastic pubic bone, Scoliosis, Short long bon...	OMIM:258480
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short femur, Short humerus, Tapered finger, Dysphagia	OMIM:618367
Trisomy 8Q	Orofacial cleft, Non-midline cleft of the upper lip, Bone cyst, High palate, Everted lower lip ve...	ORPHA:1752
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Respiratory insufficiency, Brachydactyly, Short long bone, Postaxial polydactyly	OMIM:615633
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Death in infancy	OMIM:610992
Sporadic Fetal Brain Disruption Sequence	Plagiocephaly, Prominent occiput	ORPHA:1665
Spondylocarpotarsal Synostosis Syndrome	Short metacarpal, Tarsal synostosis, Bowed humerus, Anteverted nares, Cleft palate, Broad nasal t...	OMIM:272460
Ullrich Congenital Muscular Dystrophy 2	Kyphoscoliosis, Nocturnal hypoventilation, High palate, Flexion contracture, Joint hypermobility	OMIM:616470
X-Linked Intellectual Disability, Sutherland-Haan Type	Hypoplasia of the maxilla, Mandibular prognathia, Anal atresia	ORPHA:93950
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Retrognathia, Prominent fingertip pads, Hyperlordosis, Microdontia, Eclabion, Wide mouth, Joint h...	OMIM:619950
Combined Oxidative Phosphorylation Deficiency 52	Respiratory failure, Death in infancy	OMIM:619386
Band Heterotopia	Hydrocephalus, Plagiocephaly	OMIM:600348
Fetal Trimethadione Syndrome	Brachycephaly, Transposition of the great arteries, Tetralogy of Fallot, Intrauterine growth reta...	ORPHA:1913
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Low hanging columella, Anteverted nares, Tracheobronchomalacia, Recurrent pneumonia, Prominent na...	ORPHA:500159
Frontometaphyseal Dysplasia	Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Short metacarpal, Wr...	ORPHA:1826
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Thin vermilion border, Thick lower lip vermilion, Prominent fingertip pads, ...	OMIM:617412
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Brachycephaly, Encephalocele, Coronal craniosynostosis, Frontal bossing, Intrauterine growth reta...	ORPHA:228390
Snakebite Envenomation	Gingival bleeding, Neuromuscular dysphagia, Angioedema, Epistaxis, Ecchymosis, Respiratory failur...	ORPHA:449285
Loeys-Dietz Syndrome 4	Pneumothorax, Retrognathia, High, narrow palate, Emphysema, High palate, Eosinophilic infiltratio...	OMIM:614816
Multiple Pterygium Syndrome, Lethal Type	Short finger, Depressed nasal ridge, Micrognathia, Cleft palate, Pulmonary hypoplasia, Flexion co...	OMIM:253290
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Delayed pubic bone ossification, Irregular epiphyses, Clinodactyly of the 5th finger,...	OMIM:618162
Laryngotracheoesophageal Cleft	Choking episodes, Impaired oropharyngeal swallow response, Recurrent respiratory infections, Cyan...	ORPHA:2004
Hajdu-Cheney Syndrome	Kyphoscoliosis, Dislocated radial head, Intestinal malrotation, Biconcave vertebral bodies, Crowd...	OMIM:102500
Craniolenticulosutural Dysplasia	Osteopenia, Pes planus, Joint hypermobility, Delayed eruption of teeth, Gastroesophageal reflux, ...	OMIM:607812
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Retrognathia, Deep palmar crease, Cleft soft palate, Short philtrum, Prominent nasal tip, Thick n...	ORPHA:293725
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Wide nasal bridge	OMIM:618302
Mosaic Trisomy 9	Rocker bottom foot, Tessier cleft, Deep plantar creases, Scoliosis, Hemivertebrae, High palate, L...	ORPHA:99776
Bartsocas-Papas Syndrome	Short nose, Finger syndactyly, Underdeveloped nasal alae, Narrow mouth, Synostosis of joints, Apl...	ORPHA:1234
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short nose, Self-mutilation, Abnormality of the hand, Clinodactyly of the 5th finger, Dental crow...	ORPHA:476126
Niemann-Pick Disease, Type C2	Death in childhood, Jaundice, Respiratory insufficiency, Death in infancy, Prolonged neonatal jau...	OMIM:607625
Acromelic Frontonasal Dysostosis	U-Shaped upper lip vermilion, Patellar hypoplasia, Midline facial cleft, Cleft upper lip, Mesomel...	OMIM:603671
Antley-Bixler Syndrome	Short nose, Anteverted nares, Femoral bowing, Narrow mouth, Choanal atresia, Joint stiffness, Cam...	ORPHA:83
Aspartylglucosaminuria	Short nose, Abnormal cortical bone morphology, Vascular skin abnormality, Arthritis, Mandibular p...	ORPHA:93
Alagille Syndrome 1	Hypoplasia of the ulna, Long nose, Prolonged neonatal jaundice, Short distal phalanx of finger, C...	OMIM:118450
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Orofacial cleft, Triphalangeal thumb, Non-midline cleft of the upper lip, ...	OMIM:141400
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hyposmia, Anosmia, Osteoporosis, Cleft palate, Bifid nose, Cleft lip, Clinodactyly	OMIM:614838
Zttk Syndrome	Thin vermilion border, Short nose, Intestinal atresia, Short philtrum, High palate, Abnormality o...	OMIM:617140
Chromosome 3Q13.31 Deletion Syndrome	Brachycephaly, Plagiocephaly, Dolichocephaly, Alobar holoprosencephaly	OMIM:615433
Larsen-Like Syndrome	Clinodactyly of the 5th finger, Wide anterior fontanel, Radial deviation of the 4th finger, Bipar...	OMIM:608545
Cartilage-Hair Hypoplasia	Limited elbow extension, Aganglionic megacolon, Anal stenosis, Esophageal atresia, Metaphyseal cu...	OMIM:250250
Laryngeal Abductor Paralysis	Cyanosis, Dysphagia, Talipes equinovarus	OMIM:150260
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Flared metaphysis, Metaphyseal cupping, Bowing of the legs, Genu varum	OMIM:619073
Dyskeratosis Congenita	Premature graying of hair, Palmoplantar keratoderma, Periodontitis, Esophageal stenosis, Abnormal...	ORPHA:1775
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Bifid uvula, Absent thumb	OMIM:619239
Pyruvate Dehydrogenase E1-Alpha Deficiency	Single transverse palmar crease, Limb undergrowth, Recurrent aspiration pneumonia, Flexion contra...	ORPHA:79243
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Retrognathia, Broad distal phalanx of finger, Genu valgum, Broad distal phalanx of the toes, Thin...	OMIM:619194
Double Outlet Right Ventricle	Pulmonary artery atresia, Narrow mouth, Intestinal malrotation, Cleft palate, Abnormality of cart...	ORPHA:3426
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Plagiocephaly, Unilambdoid synostosis, Brachycephaly	OMIM:618577
Distal Deletion 19P	Short philtrum, Hypoplasia of the maxilla, Arachnodactyly, Cleft palate, Joint hypermobility, Lon...	ORPHA:96129
Bruck Syndrome 2	Osteopenia, Femoral bowing, Elbow flexion contracture, Flexion contracture, Knee flexion contract...	OMIM:609220
Mosaic Trisomy 1	Rocker bottom foot, Broad 2nd toe, Arachnodactyly, Wide mouth, Long toe, Deviation of the 5th toe...	ORPHA:1692
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Cornelia De Lange Syndrome 2	Brachycephaly, Postnatal growth retardation, Hypertrophic cardiomyopathy, Short stature, Intraute...	OMIM:300590
Mucolipidosis Ii Alpha/Beta	Short long bone, Flat acetabular roof, Flared iliac wing, Wide mouth, Bullet-shaped phalanges of ...	OMIM:252500
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure, Proximal muscle weakness in upper limbs, Ankle clonus	OMIM:613954
Spondyloenchondrodysplasia	Juvenile rheumatoid arthritis, Delayed eruption of teeth, Arthritis, Hypoplastic ilia, Short dist...	ORPHA:1855
Cornelia De Lange Syndrome	Bilateral single transverse palmar creases, Proximal placement of thumb, Oligodactyly, Intestinal...	ORPHA:199
Alg1-Cdg	Respiratory failure, Protein-losing enteropathy, Limitation of joint mobility	ORPHA:79327
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Bronchiectasis, Recurrent respiratory infections, Atelectasis	OMIM:619466
Cardiofaciocutaneous Syndrome	Short nose, Genu valgum, Deep palmar crease, Cubitus valgus, Palmoplantar keratoderma, Excessive ...	ORPHA:1340
Floating-Harbor Syndrome	Long nose, Dislocated radial head, Short metacarpal, Microdontia, Impulsivity, Wide mouth, Clinod...	ORPHA:2044
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Tongue thrusting, Recurrent hand flapping, Impulsivity, Protruding tongue, Hand clenching, Motor ...	OMIM:619580
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Nijmegen Breakage Syndrome	Convex nasal ridge, Retrognathia, Anal stenosis, Cutaneous photosensitivity, Non-midline cleft of...	ORPHA:647
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodactyly, Syndactyly, Long philtrum, ...	OMIM:265000
Robinow Syndrome	Kyphoscoliosis, Mesomelic arm shortening, Acromesomelia, Broad alveolar ridges, Dental crowding, ...	ORPHA:97360
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Tessier cleft, High, narrow palate, Choanal atresia, Depressed nasal ridge, Cleft upper lip, Clef...	OMIM:607597
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal palate morphology, Tarsal synostosis, Abnormal dental enamel morphology, Ectopic anus, W...	ORPHA:85199
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis	ORPHA:71277
Oculocerebrorenal Syndrome Of Lowe	Cheilitis, Dental crowding, Everted lower lip vermilion, Tooth agenesis, Death in infancy, Joint ...	ORPHA:534
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Oligodactyly, Ectrodactyly	ORPHA:3016
Fanconi Anemia, Complementation Group P	Hypoplasia of the radius, Micrognathia, Absent thumb, Short thumb, Bulbous nose	OMIM:613951
Radial Aplasia, X-Linked	Absent radius	OMIM:312190
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hypoventilation, Genu valgum, Mandibular prognathia, Elbow flexion contracture, Scoliosis, Kyphos...	OMIM:618493
Aicardi Syndrome	Butterfly vertebrae, Proximal placement of thumb, Scoliosis, Hemivertebrae, Missing ribs, Rib fus...	OMIM:304050
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Camptodactyly of finger, Respiratory failure, Ventilator dependence with inability to wean, Talip...	OMIM:604320
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Palmoplantar cutis gyrata, Dislocated radial head, Arachnodactyly, Bifid uvula, Joint hypermobili...	OMIM:130070
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of the temporomandibular joint, Atelectasis, Recurrent lower respiratory tract infect...	ORPHA:258
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis, Flat occiput	OMIM:618736
Neonatal Marfan Syndrome	Increased arm span, High, narrow palate, Emphysema, Arachnodactyly, Micrognathia, Long fingers, H...	ORPHA:284979
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Retrognathia, Thin vermilion border, Death in childhood, Anteverted nares, Protruding tongue, Bif...	OMIM:612938
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Short clavicles, Gingival overgrowth, Abnormality of the lower limb, Steep acetabular...	ORPHA:313855
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Microdontia, Split foot, Abnormal nasopharynx morphology, Oligodontia, Selective tooth agenesis, ...	OMIM:129900
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Purpura, Petechiae, Interstitial pneumonitis, Vasculitis in the skin, Recurrent upper respiratory...	OMIM:620296
Autosomal Dominant Robinow Syndrome	Retrognathia, Abnormal form of the vertebral bodies, Long philtrum, Anodontia, Coxa valga, Hip di...	ORPHA:3107
Lethal Congenital Contracture Syndrome 2	Respiratory failure, Micrognathia, Arthrogryposis multiplex congenita	OMIM:607598
Pulmonary Arteriovenous Malformation	Cyanosis, Clubbing, Pleural empyema, Hypoxemia, Epistaxis, Pulmonary hemorrhage, Hemothorax, Tela...	ORPHA:2038
Craniodigital-Intellectual Disability Syndrome	Short stature, Brachycephaly, Spina bifida occulta	ORPHA:1514
Prader-Willi Syndrome Due To Translocation	Retrognathia, Head-banging, Everted lower lip vermilion, Bifid uvula, Wide mouth, Overlapping toe...	ORPHA:177907
Lymphatic Malformation 7	Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch...	OMIM:617300
Spondylodysplastic Ehlers-Danlos Syndrome	Subluxation of the small joints of the hand, Abnormal femoral head morphology, Abnormal finger mo...	ORPHA:536471
Bardet-Biedl Syndrome 8	Brachycephaly, Situs inversus totalis	OMIM:615985
Chromosome 3Pter-P25 Deletion Syndrome	Postnatal growth retardation, Brachycephaly, Flat occiput, Atrioventricular canal defect, Short s...	OMIM:613792
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Sandal gap, Enlarged metaphyses, Dislocated radial head, Microdontia, Generalized osteoporosis, L...	OMIM:245600
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Non-midline cleft of the upper lip, Scoliosis, Split hand, Abnormal rib morpho...	ORPHA:1300
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tessier cleft, Pectoral muscle hypoplasia/aplasia, Hypoplasia of the frontal bone, Hypoplasia of ...	ORPHA:306542
Muscular Dystrophy, Duchenne Type	Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Hamstring contractures, Achilles tendon c...	OMIM:310200
High Altitude Pulmonary Edema	Anorexia, Pulmonary edema, Hypoxemia, Cyanosis	ORPHA:330012
Cutis Laxa, Autosomal Recessive, Type Ib	Convex nasal ridge, Retrognathia, Pulmonary artery aneurysm, Death in childhood, Emphysema, High ...	OMIM:614437
Crouzon Syndrome	Lambdoidal craniosynostosis, Dental crowding, Mandibular prognathia, High palate, Hypoplasia of t...	OMIM:123500
Marden-Walker Syndrome	Retrognathia, Talipes, Abnormal form of the vertebral bodies, Scoliosis, Narrow mouth, Kyphosis, ...	ORPHA:2461
Craniosynostosis And Dental Anomalies	Narrow palate, Supernumerary tooth, Lambdoidal craniosynostosis, Wide nose, Delayed eruption of t...	OMIM:614188
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Clinodactyly of the 5th finger, Clubbing of fingers, Metaphyseal cupping, Tooth malpo...	OMIM:156400
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Short nose, Proximal placement of thumb, Tracheomalacia, Wide anterior fontanel, Anteverted nares...	OMIM:217980
Even-Plus Syndrome	Brachycephaly, Patent foramen ovale, Severe short stature, Atrial septal defect, Oligohydramnios	OMIM:616854
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Branchiogenic-Deafness Syndrome	Short distal phalanx of finger, Submucous cleft hard palate, Abnormal foot morphology, Trismus	OMIM:609166
Lessel-Kreienkamp Syndrome	Plagiocephaly, Patent foramen ovale, Pulmonic stenosis, Frontal bossing, Bicuspid aortic valve, A...	OMIM:619149
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Retrognathia, Bowed humerus, Short clavicles, Elbow flexion contracture, Hypoplastic pelvis, Bila...	OMIM:618022
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Plagiocephaly, Polyhydramnios	ORPHA:521390
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Genu valgum, Anosmia, Osteoporosis, Cleft palate	OMIM:614880
Farber Disease	Short finger, Abnormality of the hand, Abnormality of the wrist, Atelectasis, Abnormality of the ...	ORPHA:333
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Partial anosmia, Midgut malrotation, Short lingual frenulum, Osteoporosis, Pulmonary ...	ORPHA:2326
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Brachycephaly, Plagiocephaly, Short stature, Frontal bossing, Dolichocephaly, Bicuspid aortic val...	OMIM:619721
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Retrognathia, Distal shortening of limbs, Spina bifida occulta, Abnormal rib morpholo...	ORPHA:488434
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Arachnodactyly, Bifid uvula, Absent thumb, Dysphagia, Joint hypermobility, Short philtrum, Cleft ...	ORPHA:500150
Pontocerebellar Hypoplasia Type 1	Respiratory failure, Arthrogryposis multiplex congenita	ORPHA:2254
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly	OMIM:620200
Scarf Syndrome	Long philtrum, Hepatocellular adenoma, Craniosynostosis, Abnormal form of the vertebral bodies, E...	ORPHA:3134
Restrictive Dermopathy 1	Rocker bottom foot, Kyphoscoliosis, Stillbirth, Short clavicles, Wide anterior fontanel, Temporom...	OMIM:275210
Oculodentodigital Dysplasia	Broad alveolar ridges, Tooth agenesis, Clinodactyly, Taurodontia, Cranial hyperostosis, Anteverte...	ORPHA:2710
Bronchogenic Cyst	Bronchogenic cyst, Abnormal stomach morphology, Atelectasis, Abnormal esophagus morphology, Dysph...	ORPHA:2357
Cowden Syndrome 1	Scoliosis, High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hypoplasia of the...	OMIM:158350
Primrose Syndrome	Reduced bone mineral density, Generalized osteoporosis, Short distal phalanx of finger, Joint hyp...	OMIM:259050
Immunodeficiency 54	Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections	OMIM:609981
Bethlem Muscular Dystrophy	Hypoventilation, Ankle flexion contracture, Spinal rigidity, Curved toe phalanx, Elbow flexion co...	ORPHA:610
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Dental crowding, Intestinal malrotation, Paranasal sinus hypoplasia, ...	OMIM:300373
Mccune-Albright Syndrome	Hepatocellular adenoma, Abnormal femur morphology, Abnormal facial skeleton morphology, Aneurysma...	ORPHA:562
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short nose, Aganglionic megacolon, Short philtrum, Mandibular prognathia, Delayed ossification of...	OMIM:239300
Duane Retraction Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Spina bifida occulta, Aplasia/Hypoplasia of the th...	ORPHA:233
Poems Syndrome	Metaphyseal sclerosis, Clubbing of fingers, Pleural effusion, Sclerosis of hand bone, Sclerosis o...	ORPHA:2905
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Thin vermilion border, Sandal gap, Micromelia, Broad hallux, Syndactyly, Brachydactyly, Long phil...	OMIM:614800
Buratti-Harel Syndrome	Clinodactyly of the 5th finger, High palate, Broad thumb, Velopharyngeal insufficiency, Bifid uvu...	OMIM:619314
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Rectovaginal fistula, Bilateral talipes equinovarus, Inflammation of the large intestine, Microgn...	OMIM:619708
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure, Dysphagia	ORPHA:70472
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly	OMIM:309530
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Polydactyly, Scoliosis, Short long bone, Brachydactyly	OMIM:613819
Vacterl With Hydrocephalus	Retrognathia, Hypoplasia of the radius, Esophageal atresia, Tracheoesophageal fistula, Anal atres...	ORPHA:3412
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Cyanosis	ORPHA:91130
Tricuspid Atresia	Cyanosis, Pulmonary artery atresia	ORPHA:1209
Osteogenesis Imperfecta, Type Xvii	Reduced bone mineral density, Thin metacarpal cortices, Bowed humerus, Thin long bone diaphyses, ...	OMIM:616507
Microcephaly 30, Primary, Autosomal Recessive	Pierre-Robin sequence, Clinodactyly of the 5th finger, Thin upper lip vermilion, Cleft soft palate	OMIM:620183
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus, Cranial asymmetry, Short stature, Growth delay, Double outlet right ventricle, Atr...	OMIM:614886
8Q12 Microduplication Syndrome	Brachycephaly, Atrial septal defect, Ventricular septal defect	ORPHA:228399
Cryptogenic Organizing Pneumonia	Pneumothorax, Hypoxemia, Cyanosis, Anorexia	ORPHA:1302
Diamond-Blackfan Anemia 6	Retrognathia, Triphalangeal thumb, Tracheomalacia, Cleft upper lip, Micrognathia, Bifid uvula, Cl...	OMIM:612561
Meier-Gorlin Syndrome 7	Anal stenosis, Joint hypermobility, Dislocated radial head, Aplasia/Hypoplasia of the patella, 2-...	OMIM:617063
Congenital Myopathy 21 With Early Respiratory Failure	Respiratory failure, Lipoid pneumonia	OMIM:620326
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Wide anterior fontanel, Scoliosis, High palate, Congenital hip dislocation, Contracture of the pr...	ORPHA:457279
Potocki-Shaffer Syndrome	Brachycephaly, Parietal foramina, Turricephaly	OMIM:601224
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Brachycephaly, Hydrocephalus, Trigonocephaly, Aortic valve stenosis, Short stature, Atrial septal...	ORPHA:459061
Cdags Syndrome	Rectourethral fistula, Lambdoidal craniosynostosis, Rectovaginal fistula, Short clavicles, Short ...	OMIM:603116
Recombinant Chromosome 8 Syndrome	Postnatal growth retardation, Brachycephaly, Pulmonic stenosis, Growth delay, Tetralogy of Fallot...	OMIM:179613
Holoprosencephaly 9	Solitary median maxillary central incisor, Bilateral cleft palate, Hypoplasia of the premaxilla, ...	OMIM:610829
Orofaciodigital Syndrome Type 3	Thoracic kyphosis, Postaxial hand polydactyly, Abnormality of the dentition, Irregular dentition,...	ORPHA:2752
Adult Acute Respiratory Distress Syndrome	Pulmonary edema, Abnormal blood gas level, Hypoxemia, Pneumonia, Respiratory failure	ORPHA:70578
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Short middle phalanx of the 4th finger, Limited pronation/supination of forearm, Cleft palate, Ra...	OMIM:616738
Neu-Laxova Syndrome 1	Rocker bottom foot, Radial deviation of finger, Swollen lip, Clinodactyly, Camptodactyly, Microme...	OMIM:256520
Radial-Renal Syndrome	Absent radius, Absent thumb	OMIM:179280
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Aplasia of the distal phalanx of the 5th toe, Everted lower lip vermilion, Long philtrum, Short f...	OMIM:608670
Multiple Mitochondrial Dysfunctions Syndrome 1	Respiratory insufficiency, Respiratory failure, Neonatal death, Death in infancy	OMIM:605711
Saul-Wilson Syndrome	Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared...	OMIM:618150
Tbck-Related Intellectual Disability Syndrome	Broad finger, High, narrow palate, 11 pairs of ribs, Broad toe, Mandibular prognathia, 2-3 toe sy...	ORPHA:488632
Combined Oxidative Phosphorylation Deficiency 11	Stillbirth, Death in childhood, Death in infancy, Neonatal death, Respiratory failure	OMIM:614922
Potocki-Shaffer Syndrome	Delayed puberty, Parietal foramina, Brachycephaly	ORPHA:52022
Hereditary Methemoglobinemia	Lip discoloration, Cyanosis	ORPHA:621
Acrocallosal Syndrome	Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid distal phalanx of the thumb...	OMIM:200990
Eosinophilic Granulomatosis With Polyangiitis	Intestinal obstruction, Purpura, Respiratory insufficiency, Arthritis, Nasal polyposis, Sinusitis...	ORPHA:183
Dent Disease	Rickets, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement of the ankles, A...	ORPHA:1652
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Brachycephaly, Plagiocephaly, Polyhydramnios, Increased nuchal translucency, Short stature	OMIM:618862
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Genu valgum, Dysphagia, Aggressive behavior	ORPHA:488627
Peroxisomal Acyl-Coa Oxidase Deficiency	Brachycephaly, Frontal bossing	OMIM:264470
Axenfeld-Rieger Syndrome	Anal stenosis, Everted lower lip vermilion, Microdontia, Hypoplasia of the maxilla, Hypodontia, W...	ORPHA:782
Hutchinson-Gilford Progeria Syndrome	Retrognathia, Abnormal nasal tip morphology, Reduced bone mineral density, Dental crowding, Narro...	ORPHA:740
Craniofacial-Deafness-Hand Syndrome	Short nose, Hypoplasia of the maxilla, Ulnar deviation of the hand, Malar flattening, Narrow nari...	OMIM:122880
Gm1 Gangliosidosis Type 1	Long philtrum, Beaking of vertebral bodies T12-L3, Platyspondyly, Spatulate ribs, Broad long bone...	ORPHA:79255
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Widely spaced teeth, Triangular mouth, Anteverted nares, Gingival overgrowth, Elbow flexion contr...	OMIM:300868
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Intellectual Developmental Disorder, Autosomal Dominant 26	Intrauterine growth retardation, Brachycephaly, Short stature, Umbilical hernia	OMIM:615834
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Osteopenia, Hyposmia, Ectrodactyly, Anosmia, Tooth agenesis, Choanal atresia, Cleft upper lip, Cl...	OMIM:147950
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory insufficiency, Respiratory failure, Death in infancy	OMIM:614299
Distal Duplication 17Q	Genu valgum, Rhizomelia, Short philtrum, Hyperactivity, High palate, Arachnodactyly, Micrognathia...	ORPHA:3379
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Tooth agenesis, Mesomelia, Wide mouth, Cutis marmorata, Long philtru...	ORPHA:818
Poland Syndrome	Finger symphalangism, Abnormality of the hand, Aplasia of the pectoralis major muscle, Reduced bo...	ORPHA:2911
Apert Syndrome	Limited elbow movement, Broad thumb, Bifid uvula, Syndactyly, Craniosynostosis, Narrow palate, Po...	OMIM:101200
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Brachycephaly, Ventricular septal defect, Intrauterine growth retardation, Atrial septal defect, ...	OMIM:618142
Riddle Syndrome	Abnormal pulmonary interstitial morphology, Erythema, Bronchitis, Neonatal asphyxia, Arthritis, C...	ORPHA:420741
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Cystic pattern on pulmo...	OMIM:610978
Meconium Aspiration Syndrome	Pneumothorax, Atelectasis, Neonatal asphyxia, Aspiration pneumonia, Hypoxemia	ORPHA:70588
Familial Nasal Acilia	Atelectasis, Chronic rhinitis, Recurrent upper respiratory tract infections, Bronchiectasis, Chro...	ORPHA:922
Congenital Heart Defects And Ectodermal Dysplasia	Brachycephaly, Frontal bossing, Atrioventricular canal defect	OMIM:617364
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short nose, Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Oligodontia, Exa...	ORPHA:364577
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Respiratory failure, Pulmonary fibrosis, Nodular pattern on ...	ORPHA:99931
Geleophysic Dysplasia 1	Osteopenia, Joint contracture of the hand, Platyspondyly, Short long bone, Short foot, Wrist flex...	OMIM:231050
21Q22.11Q22.12 Microdeletion Syndrome	Thick lower lip vermilion, Tongue thrusting, Cone-shaped epiphyses of the phalanges of the hand, ...	ORPHA:261323
Bare Lymphocyte Syndrome, Type I	Emphysema, Recurrent bronchitis, Bronchiolitis, Nasal polyposis, Bronchiectasis, Chronic sinusitis	OMIM:604571
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Short nose, Aganglionic megacolon, Anal stenosis, Anal atresia, Shortening of all distal phalange...	OMIM:614749
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperactivity, Respiratory failure, Reduced subcutaneous adipose tissue	ORPHA:363400
1Q41Q42 Microdeletion Syndrome	Underdeveloped nasal alae, Cleft palate, Pulmonary hypoplasia, Thick vermilion border, Broad nasa...	ORPHA:250999
Diamond-Blackfan Anemia 1	Retrognathia, Hypoplasia of the radius, Triphalangeal thumb, Hypoplastic coccygeal vertebrae, Spi...	OMIM:105650
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Neonatal respiratory distress, Atelectasis	OMIM:267450
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Hypoplasia of the maxilla, Enterocolitis, Micrognathia, Death in childhood	OMIM:301108
Baller-Gerold Syndrome	Short nose, Abnormal carpal morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the...	ORPHA:1225
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Brachycephaly, Turricephaly, Hydrocephalus, Umbilical hernia, Craniosynostosis	ORPHA:171839
Aminopterin Syndrome Sine Aminopterin	Brachycephaly, Short stature, Frontal bossing, Umbilical hernia, Intrauterine growth retardation	OMIM:600325
Mosaic Trisomy 20	Retrognathia, Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Limit...	ORPHA:1724
Opitz-Kaveggia Syndrome	Radial deviation of finger, Dental crowding, Prominent fingertip pads, Broad thumb, Intestinal ma...	OMIM:305450
Leukocyte Adhesion Deficiency Type Ii	Narrow palate, Severe periodontitis, Premature loss of teeth, Mandibular prognathia, Long upper l...	ORPHA:99843
Lacrimoauriculodentodigital Syndrome	Anosmia, Microdontia, Bifid uvula, Absent thumb, Syndactyly, Dysphagia, Clinodactyly, Hypoplasia ...	ORPHA:2363
Brain-Lung-Thyroid Syndrome	Abnormal pulmonary interstitial morphology, Abnormal eating behavior, Hyperactivity, Compulsive b...	ORPHA:209905
Bloom Syndrome	Esophageal neoplasm, Retrognathia, Cheilitis, Stomach cancer, Cutaneous photosensitivity, Bronchi...	ORPHA:125
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Dental crowding, Bifid uvula, Short philtrum, Anteverted nares, Osteoporosis, Cleft palate, Bulbo...	OMIM:309583
Avian Influenza	Pneumothorax, Miscarriage, Pleural effusion, Hypoxemia, Pneumonia, Respiratory failure	ORPHA:454836
Congenital Pulmonary Lymphangiectasia	Cyanosis, Pleural effusion	ORPHA:2414
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Narrow palate, Atelectasis, Hammertoe, Tracheomalacia, Respiratory insufficiency, Anteverted nare...	OMIM:620371
Ciliary Dyskinesia, Primary, 29	Bronchiectasis, Recurrent respiratory infections, Atelectasis	OMIM:615872
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hypoplastic sacrum, Absence of Stensen duct, Anal stenosis, Selective tooth agenesis, Split hand,...	OMIM:604292
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Nocturnal hypoventilation, Scoliosis, Hyperlordosis, Calf muscle hypertrophy, Kyphosis, Achilles ...	OMIM:607155
Fanconi Anemia, Complementation Group I	Hypoplasia of the radius, Fused cervical vertebrae, Absent thumb, Short thumb, Short 1st metacarpal	OMIM:609053
Costello Syndrome	Pneumothorax, Limited elbow movement, Thick lower lip vermilion, Deep palmar crease, Tracheomalac...	OMIM:218040
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	High, narrow palate, Mandibular prognathia, Scoliosis, Hypoplasia of the maxilla, Camptodactyly o...	ORPHA:1101
Recombinant 8 Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Anteverted nares, Gin...	ORPHA:96167
Limb-Mammary Syndrome	Split hand, Camptodactyly, Split foot, Bifid uvula, Cleft palate, Syndactyly, Hypodontia, Hallux ...	OMIM:603543
Pfeiffer Syndrome Type 3	Short nose, Short hallux, Finger syndactyly, Tracheomalacia, High palate, Choanal atresia, Anal a...	ORPHA:93260
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Pulmonic stenosis, Cranial asymmetry, Abnormal pulmonary valve morphology	ORPHA:137634
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Kleefstra Syndrome 2	Growth delay, Plagiocephaly	OMIM:617768
Hypomandibular Faciocranial Dysostosis	Short nose, Anteverted nares, Maxillozygomatic hypoplasia, Narrow mouth, Death in infancy, Bifid ...	ORPHA:1790
Orofaciodigital Syndrome V	Aganglionic megacolon, Sandal gap, Postaxial hand polydactyly, High palate, Ankyloglossia, Postax...	OMIM:174300
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Short stature, Brachycephaly	ORPHA:320385
Oculodentodigital Dysplasia	Joint contracture of the 5th finger, Broad alveolar ridges, Microdontia, Clinodactyly, Narrow nos...	OMIM:164200
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Widely spaced teeth, Clinodactyly of the 5th finger, Palmoplantar keratoderma, Delayed eruption o...	ORPHA:1071
Leigh Syndrome	Respiratory insufficiency, Respiratory failure	OMIM:256000
Axenfeld-Rieger Syndrome, Type 2	Anal stenosis, Short philtrum, Mandibular prognathia, Everted lower lip vermilion, Microdontia, H...	OMIM:601499
Agnathia-Otocephaly Complex	Wide nose, Tracheomalacia, Narrow mouth, Mandibular aplasia, Micrognathia, Cleft palate, Pulmonar...	OMIM:202650
Fanconi Anemia, Complementation Group F	Hypoplasia of the radius, Absent thumb, Short thumb, 2-3 finger syndactyly, Pneumonia, Duodenal a...	OMIM:603467
Phosphoribosylaminoimidazole Carboxylase Deficiency	Clinodactyly of the 5th finger, Esophageal atresia, Lumbar hemivertebrae, Tracheoesophageal fistu...	OMIM:619859
Combined Oxidative Phosphorylation Deficiency 4	Respiratory failure, Death in infancy	OMIM:610678
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory failure, Respiratory insufficiency due to muscle weakness	ORPHA:352447
Cebalid Syndrome	Brachycephaly, Plagiocephaly, Turricephaly, Platystencephaly, Dolichocephaly	OMIM:618774
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Hypoplasia of the radius, Clinodactyly of the 5th finger, Anal atresia, Pulmonary artery stenosis...	ORPHA:140952
Angelman Syndrome	Widely spaced teeth, Hyperactivity, Mandibular prognathia, Protruding tongue, Hypoplasia of the m...	OMIM:105830
Epidermolysis Bullosa, Lethal Acantholytic	Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Natal tooth, Neon...	OMIM:609638
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Orofacial cleft, Genu valgum, Cone-shaped epiphyses of the phalanges of the hand, Short long bone...	OMIM:615630
Allergic Bronchopulmonary Aspergillosis	Bronchiectasis, Respiratory insufficiency, Emphysema	ORPHA:1164
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Polydipsia, Recurrent lower respiratory tract infections, Anteverted nares, Everted lower lip ver...	ORPHA:293987
Congenital Heart Block	Cyanosis, Pleural effusion	ORPHA:60041
Hajdu-Cheney Syndrome	Partial absence of toe, Decreased skull ossification, Intestinal malrotation, Long philtrum, Shor...	ORPHA:955
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Short stature, Frontal bossing, Brachycephaly, Craniosynostosis	ORPHA:314575
Congenital Tracheomalacia	Pneumothorax, Cyanosis, Emphysema, Esophageal atresia, Tracheomalacia, Respiratory insufficiency,...	ORPHA:95430
Holoprosencephaly-Craniosynostosis Syndrome	Brachycephaly, Plagiocephaly, Short stature, Holoprosencephaly, Craniosynostosis	ORPHA:2163
Ganglioneuroma	Gastrointestinal hemorrhage, Colorectal polyposis, Multiple intestinal neurofibromatosis, Abnorma...	ORPHA:251992
Autism, Susceptibility To, X-Linked 2	Plagiocephaly	OMIM:300495
Viss Syndrome	Rocker bottom foot, Retrognathia, Kyphosis, Intestinal malrotation, Arachnodactyly, Malposition o...	OMIM:619472
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Plagiocephaly, Frontal bossing	OMIM:619264
Breath-Holding Spells	Cyanosis	OMIM:607578
Tyrosinemia Type 1	Rickets of the lower limbs	ORPHA:882
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Short stature, Brachycephaly	OMIM:615031
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Palmoplantar hyperkeratosis, Abnormality of the philtrum, Ectodermal dysplasia, Microdontia, Clef...	OMIM:225060
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Short stature, Brachycephaly	OMIM:309541
Rhizomelic Limb Shortening With Dysmorphic Features	Plagiocephaly, Patent foramen ovale, Rhizomelia	OMIM:618821
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Short ribs, Long philtrum, Postaxial hand polydactyly, Micromelia, Short palm, Preaxial hand poly...	ORPHA:93271
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly	ORPHA:459074
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure	OMIM:619483
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Deafness-Lymphedema-Leukemia Syndrome	Respiratory failure, Recurrent respiratory infections, Bruising susceptibility	ORPHA:3226
Monosomy 18P	Short stature, Lymphedema, Holoprosencephaly, Brachycephaly	ORPHA:1598
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Micromelia, Short neck, Long philtrum, Adducted thumb	ORPHA:50810
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Brachycephaly, Biparietal narrowing, Short stature, Abnormal mitral valve morphology, Frontal bos...	ORPHA:1292
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Diaphyseal cortical sclerosis, Osteopenia, Premature graying of hair, Metaphyseal striations, Fra...	OMIM:112250
Schisis Association	Tracheoesophageal fistula, Anal atresia, Micromelia, Cleft palate, Unilateral cleft lip	ORPHA:63862
Congenital Disorder Of Glycosylation, Type Il	Brachycephaly, Hydrops fetalis, Ascites, Pericardial effusion, Frontal bossing, Atrial septal defect	OMIM:608776
Fryns Syndrome	Long philtrum, Aganglionic megacolon, Clinodactyly of the 5th finger, Non-midline cleft of the up...	ORPHA:2059
Prader-Willi Syndrome	Osteopenia, Acromicria, Hypoventilation, Genu valgum, Radial deviation of finger, Cutaneous photo...	OMIM:176270
Lenz-Majewski Hyperostotic Dwarfism	Cutis marmorata, Syndactyly, Joint hypermobility, Elbow flexion contracture, Abnormality of the d...	OMIM:151050
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Gastric varix, Chronic bronchitis, Panacinar emphysema	OMIM:613490
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Short middle phal...	ORPHA:319675
Desmosterolosis	Short nose, Rhizomelia, Gingival fibromatosis, Anteverted nares, Total anomalous pulmonary venous...	OMIM:602398
Peters-Plus Syndrome	Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Short metacarpal, Syndac...	OMIM:261540
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft palate, Cleft soft palate	ORPHA:2736
Tetraamelia Syndrome 2	Bilateral lung agenesis, Hypoplastic pulmonary veins, Amelia, Glossoptosis, Ankyloglossia, Microg...	OMIM:618021
Intellectual Developmental Disorder, Autosomal Dominant 74	Intrauterine growth retardation, Brachycephaly	OMIM:620688
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Brachycephaly, Plagiocephaly, Transposition of the great arteries, Patent foramen ovale, Frontal ...	OMIM:616789
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Intrauterine growth retardation, Postnatal growth retardation, Brachycephaly	OMIM:615419
Acromelic Frontonasal Dysplasia	Patellar hypoplasia, Median cleft palate, Aplasia/Hypoplasia of the tibia, Wide mouth, Median cle...	ORPHA:1827
Hemimegalencephaly	Cranial asymmetry	ORPHA:99802
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Pulmonary artery aneurysm, Tracheobronchomalacia, Femoral bowing, Dysphagia, Median...	OMIM:616462
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Micromelia, Short phalanx of finger, Trapezoidal vertebral body, Brachydactyly	OMIM:600092
Cardiofaciocutaneous Syndrome 1	Osteopenia, Clinodactyly of the 5th finger, Multiple plantar creases, Gastroesophageal reflux, Hy...	OMIM:115150
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Brachycephaly, Plagiocephaly, Patent foramen ovale, Short stature, Abnormal heart morphology, Umb...	ORPHA:369891
Ciliary Dyskinesia, Primary, 1	Atelectasis, Absent frontal sinuses, Recurrent bronchitis, Anosmia, Chronic rhinitis, Bronchiecta...	OMIM:244400
Ablepharon Macrostomia Syndrome	Thin vermilion border, Excessive wrinkled skin, Anteverted nares, Underdeveloped nasal alae, Micr...	ORPHA:920
Muenke Syndrome	Hydrocephalus, Plagiocephaly, Brachycephaly, Coronal craniosynostosis	ORPHA:53271
Cranioectodermal Dysplasia 2	Retrognathia, Short ribs, Everted lower lip vermilion, Microdontia, Mesomelia, Syndactyly, Broad ...	OMIM:613610
Intellectual Developmental Disorder, Autosomal Dominant 48	Plagiocephaly, Umbilical hernia, Bicuspid aortic valve, Ventricular septal defect, Intrauterine g...	OMIM:617751
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Sandal gap, Prominent fingertip pads, High palate, Smooth philtrum, Long phi...	OMIM:612863
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Ehlers-Danlos Syndrome, Vascular Type	Hypermobility of distal interphalangeal joints, Repeated pneumothoraces, Narrow nasal ridge, Nodu...	OMIM:130050
Bresek Syndrome	Hydrocephalus, Plagiocephaly, Intrauterine growth retardation, Growth delay	ORPHA:85284
Dihydropyrimidine Dehydrogenase Deficiency	Respiratory failure requiring assisted ventilation, Retrognathia, Deep palmar crease, Delayed eru...	ORPHA:1675
Coffin-Siris Syndrome 6	Short stature, Frontal bossing, Atrial septal defect, Plagiocephaly	OMIM:617808
Holoprosencephaly 13, X-Linked	Butterfly vertebrae, Solitary median maxillary central incisor, Gastroesophageal reflux, Median c...	OMIM:301043
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia	OMIM:179830
Orofaciodigital Syndrome Type 1	Reduced bone mineral density, Broad alveolar ridges, Accessory oral frenulum, Tongue nodules, Con...	ORPHA:2750
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Cleft soft palate, Hypoxemia, Micrognathia, Submucous cleft soft palate, Short neck	ORPHA:2282
Cooper-Jabs Syndrome	Brachycephaly, Short stature, Frontal bossing, Umbilical hernia, Ventricular septal defect	ORPHA:1488
Severe Generalized Junctional Epidermolysis Bullosa	Pneumothorax, Osteoporosis, Esophageal stricture, Fragile skin, Enamel hypoplasia, Abnormal oral ...	ORPHA:79404
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Rhyns Syndrome	Osteopenia, Short long bone, Osteoporosis, Short femoral neck, Radial bowing, Brachydactyly	OMIM:602152
Muenke Syndrome	Brachycephaly, Plagiocephaly, Cloverleaf skull, Short stature, Coronal craniosynostosis	OMIM:602849
Hsd10 Disease, Infantile Type	Cyanosis, Paroxysmal bursts of laughter, Dysphagia, Restlessness	ORPHA:391428
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Death in childhood	OMIM:615838
Hydrolethalus Syndrome 1	Stillbirth, Upper limb undergrowth, Postaxial hand polydactyly, Duplication of phalanx of hallux,...	OMIM:236680
Multiple Acyl-Coa Dehydrogenase Deficiency	Wide anterior fontanel, Scapular winging, Dysphagia, Cardiorespiratory arrest, Respiratory failur...	ORPHA:26791
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Dental crowding, Hyperlordosis, Internally rotated shoulders, Wide mouth, Dysphagia, Joint hyperm...	OMIM:619503
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Dislocated radial head, Mandibular condyle hypoplasia, Deformed humerus, Micrognathia, Hypoplasia...	ORPHA:2975
Fucosidosis	Anterior beaking of lumbar vertebrae, Vascular skin abnormality, Abnormality of the dentition, Ky...	ORPHA:349
Nephronophthisis 2	Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia	OMIM:602088
Hyperimmunoglobulinemia D With Periodic Fever	Intestinal obstruction, Purpura, Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Arth...	ORPHA:343
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Short nose, Fibular hypoplasia, Hip subluxation, Cervical C2/C3 vertebral fusion, Tracheomalacia,...	ORPHA:444077
Camptodactyly Syndrome, Guadalajara Type 1	Intrauterine growth retardation, Brachycephaly, Short stature, Spina bifida	ORPHA:1327
Epidermodysplasia Verruciformis, Susceptibility To, 4	Stomatitis, Facial erythema, Emphysema	OMIM:618307
Mullegama-Klein-Martinez Syndrome	Polydactyly, Clinodactyly of the 5th finger, Short philtrum, Scoliosis, Submucous cleft of soft a...	OMIM:301022
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Brachycephaly, Plagiocephaly, Dolichocephaly, Prominent occiput	OMIM:618672
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Bencze Syndrome	Submucous cleft hard palate, Open bite	ORPHA:1241
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphoscoliosis, High, narrow palate, Widely spaced teeth, Short philtrum, Gastroesophageal reflux...	OMIM:300967
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Polydactyly, Supernumerary tooth, Retrognathia, Short 5th toe, 2-4 toe cutaneous syndactyly, Wide...	ORPHA:268261
Idiopathic Chronic Eosinophilic Pneumonia	Generalized abnormality of skin, Hypersensitivity pneumonitis, Atelectasis, Pleural effusion, Hyp...	ORPHA:2902
Trisomy 8P	Retrognathia, Clinodactyly of the 5th toe, Clinodactyly of the 2nd finger, Bifid uvula, Malrotati...	ORPHA:264450
Classical Ehlers-Danlos Syndrome	Dislocated radial head, Patellar dislocation, Hip dislocation, Scoliosis, Acrocyanosis, Poor woun...	ORPHA:287
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Joint stiffness, Achalasia, Acrocyanosis	ORPHA:2400
Fetal Akinesia Deformation Sequence 1	Rocker bottom foot, Wrist flexion contracture, Long philtrum, Ulnar deviation of the hand or of f...	OMIM:208150
Hypercholanemia, Familial 1	Rickets, Steatorrhea, Fat malabsorption	OMIM:607748
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Hyperactivity, Broad alveolar ridges, Dental crowding, Death in infa...	OMIM:270400
Car T Cell Therapy-Associated Cytokine Release Syndrome	Respiratory failure, Pulmonary edema, Hypoxemia, Pleural effusion	ORPHA:542323
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Plagiocephaly, Increased nuchal translucency	ORPHA:77300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Butterfly vertebrae, Talipes, Bifid uvula, Absence of the sacrum, Submucous cleft hard palate	OMIM:617660
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Preaxial polydactyly, Short ribs, Micromelia, Postaxial polydactyly, Cleft palate, Pulmonary hypo...	OMIM:616546
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Hyperactivity, Dysphagia, Long philtrum, Short 5th finger, Long toe, Joint hy...	ORPHA:508488
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Kyphoscoliosis, Cleft soft palate, Atlantoaxial instability, Large joint hypermobilty...	OMIM:614557
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Abnormal cartilage matrix, Epiphyseal stippling, Abnormal bone structure, Short metacarpal, Short...	ORPHA:86822
Acrofrontofacionasal Dysostosis 1	Acetabular dysplasia, Mandibular prognathia, Oligodontia, Short metacarpal, Broad thumb, Cleft up...	OMIM:201180
Isolated Right Ventricular Hypoplasia	Hypoxemia, Clubbing, Cyanosis	ORPHA:439
Pierpont Syndrome	Short stature, Brachycephaly	OMIM:602342
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Nocturnal hypoventilation, Intestinal pseudo-obstruction, Abnormality of primary teeth, Tooth age...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Nocturnal hypoventilation, Intestinal pseudo-obstruction, Abnormality of primary teeth, Tooth age...	ORPHA:352665
Intellectual Developmental Disorder, Autosomal Dominant 66	Brachycephaly, Secundum atrial septal defect, Transposition of the great arteries, Plagiocephaly	OMIM:619910
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Plagiocephaly	OMIM:618725
Houge-Janssens Syndrome 3	Plagiocephaly, Muscular ventricular septal defect, Frontal bossing, Umbilical hernia, Atrial sept...	OMIM:618354
C Syndrome	Thin vermilion border, Sacral dimple, Clinodactyly of the 5th finger, Talipes, Dislocated radial ...	ORPHA:1308
Larsen Syndrome	Multiple carpal ossification centers, Short metacarpal, Dislocated wrist, Joint hypermobility, Ac...	OMIM:150250
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Intrauterine growth retardation, Frontal bossing, Brachycephaly, Plagiocephaly	OMIM:616801
Boutonneuse Fever	Respiratory failure, Abnormal skin morphology of the palm, Abnormality of the plantar skin of foot	ORPHA:83313
Limb-Mammary Syndrome	Cleft hard palate, Clinodactyly of the 5th finger, Hypodontia, Oligodactyly, Bifid uvula, Cleft p...	ORPHA:69085
Bifid Uvula	Cleft lip, Bifid uvula, Submucous cleft soft palate	ORPHA:99771
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Brachycephaly	OMIM:618859
Pseudodiastrophic Dysplasia	Brachycephaly, Frontal bossing, Rhizomelia, Severe short stature	OMIM:264180
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly, Hypoventilation, High palate, Micrognathia, Tented upper lip vermilion, Deep philtrum	ORPHA:314655
Mitochondrial Trifunctional Protein Deficiency	Pes cavus, Equinovarus deformity, Respiratory insufficiency, Equinus calcaneus, Decreased patella...	ORPHA:746
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Retrognathia, Solitary median maxillary central incisor, Dental crowding, Contracture of the prox...	OMIM:301044
Chime Syndrome	Supernumerary tooth, Osteolysis, Short philtrum, Hypodontia, Aplasia/Hypoplasia of the phalanges ...	ORPHA:3474
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Brachycephaly, Flat occiput, Short stature, Intrauterine growth retardation, Atrial septal defect...	OMIM:617452
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Brachycephaly, Frontal bossing, Patent foramen ovale, Mitral valve prolapse	OMIM:615539
Intellectual Developmental Disorder, Autosomal Dominant 58	Single transverse palmar crease, Dental crowding, High palate, Protruding tongue, Wide mouth, Thi...	OMIM:618106
Synaptic Congenital Myasthenic Syndromes	Hypoventilation, Triangular mouth, Mandibular prognathia, Scoliosis, High palate, Dysphagia, Abno...	ORPHA:98915
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Proximal tibial and fibular fusion, Femoral bowing, Short metacarpal, Arachno...	ORPHA:95699
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Overlapping toe, Cyanosis, Partial anomalous pulmonary venous return	OMIM:617478
Ctcf-Related Neurodevelopmental Disorder	Sandal gap, Joint contracture of the 5th finger, Prominent fingertip pads, Microdontia, Prolonged...	ORPHA:363611
Sarcoidosis, Susceptibility To, 1	Anorexia, Abnormal pulmonary interstitial morphology, Abnormal salivary gland morphology, Emphyse...	OMIM:181000
Fraser Syndrome 2	Rectal atresia, Wide nose, Narrow mouth, Anal atresia, Intestinal malrotation, Respiratory failur...	OMIM:617666
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Plagiocephaly, Polyhydramnios, Spina bifida occulta, Prominent occiput, Short stature, Intrauteri...	OMIM:617360
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory failure requiring assisted ventilation, Respiratory insufficiency, Respiratory insuff...	ORPHA:308552
Spinocerebellar Ataxia Type 1	Respiratory failure, Dysphagia	ORPHA:98755
Distal Deletion 15Q	Short finger, 2-3 toe cutaneous syndactyly, Genu valgum, Generalized joint hypermobility, Short p...	ORPHA:1596
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Brachycephaly, Atrioventricular canal defect, Spina bifida occul...	ORPHA:500
Pontocerebellar Hypoplasia, Type 3	Short stature, Brachycephaly	OMIM:608027
Turnpenny-Fry Syndrome	Hypoplasia of the primary teeth, Dental crowding, Thoracic kyphoscoliosis, Microdontia, Prominent...	OMIM:618371
Prune1-Related Neurological Syndrome	Plagiocephaly, Hypertrophic cardiomyopathy	ORPHA:544469
Myasthenic Syndrome, Congenital, 20, Presynaptic	Hypoventilation, Scoliosis, Kyphosis, Dysphagia, Pes planus, Arthrogryposis multiplex congenita	OMIM:617143
Alkuraya-Kucinskas Syndrome	Plagiocephaly, Hydrocephalus, Pleural effusion, Pericardial effusion, Edema	OMIM:617822
Inverted Duplicated Chromosome 15 Syndrome	Growth delay, Ventricular septal defect, Tetralogy of Fallot, Brachycephaly	ORPHA:3306
Marfan Syndrome	Osteopenia, Retrognathia, High, narrow palate, Abnormal zygomatic bone morphology, Emphysema, Lim...	ORPHA:558
Chromosome 6Pter-P24 Deletion Syndrome	Brachycephaly, Hydrocephalus, Patent foramen ovale, Frontal bossing, Tetralogy of Fallot, Umbilic...	OMIM:612582
Coffin-Siris Syndrome 4	Everted upper lip vermilion, Short phalanx of the 5th toe, Thick lower lip vermilion, Short philt...	OMIM:614609
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Plagiocephaly, Polyhydramnios, Hydrocephalus, Short stature, Intrauterine growth retardation	OMIM:619833
Dubowitz Syndrome	Sacral dimple, Clinodactyly of the 5th finger, Gastroesophageal reflux, Delayed eruption of teeth...	OMIM:223370
Pierpont Syndrome	Brachycephaly	ORPHA:487825
Scarf Syndrome	Lambdoidal craniosynostosis, Abnormal form of the vertebral bodies, Coronal craniosynostosis, Ena...	OMIM:312830
Marfan Syndrome	Pneumothorax, Retrognathia, Narrow palate, Limited elbow extension, Emphysema, Hammertoe, Dental ...	OMIM:154700
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate	ORPHA:209908
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory failure, Respiratory insufficiency due to muscle weakness, High palate, Death in chil...	OMIM:220110
Grant Syndrome	Short stature, Frontal bossing, Brachycephaly	ORPHA:2097
Acrocephalopolydactylous Dysplasia	Short nose, Extrapulmonary lobar sequestration, Hypoplasia of the small intestine, Postaxial hand...	OMIM:200995
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Cutis Laxa, Autosomal Recessive, Type Ia	Emphysema, Arachnodactyly, Poor wound healing, Joint hypermobility, Recurrent respiratory infecti...	OMIM:219100
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Jaundice, Fat malabsorption	OMIM:211600
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Short nose, Everted upper lip vermilion, Conical tooth, Periorbital wrinkles, Underdeveloped nasa...	OMIM:305100
Fraser Syndrome	Dental crowding, Death in infancy, Cleft ala nasi, Toe syndactyly, Depressed nasal bridge, Abnorm...	ORPHA:2052
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
22Q11.2 Deletion Syndrome	Multiple suture craniosynostosis, Intestinal malrotation, Arachnodactyly, Long philtrum, Joint hy...	ORPHA:567
Rajab Interstitial Lung Disease With Brain Calcifications 1	Rickets, Osteopenia, Abnormal pulmonary interstitial morphology, Reduced bone mineral density, Em...	OMIM:613658
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Gastroesophageal reflux	ORPHA:1949
Mercury Poisoning	Respiratory failure, Interstitial pneumonitis, Anorexia	ORPHA:330021
Clark-Baraitser Syndrome	Brachycephaly, Dolichocephaly	OMIM:617752
Laurence-Moon Syndrome	Short stature, Brachycephaly	ORPHA:2377
Frontonasal Dysplasia 2	Brachycephaly, Encephalocele, Parietal foramina, Anterior plagiocephaly, Intrauterine growth reta...	OMIM:613451
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Brachycephaly, Flat occiput, Short stature, Intrauterine growth retardation, Atrial septal defect...	ORPHA:505237
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory failure, Dysphagia	OMIM:620166
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Facial edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites...	OMIM:265300
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Brachycephaly, Short stature	OMIM:609757
Diamond-Blackfan Anemia	Triphalangeal thumb, Cleft soft palate, High palate, Adenocarcinoma of the colon, Micrognathia, P...	ORPHA:124
Hardikar Syndrome	Hematemesis, Gastric varix, Jaundice, Cleft soft palate, Bilateral cleft palate, Esophageal varix...	OMIM:301068
Marbach-Schaaf Neurodevelopmental Syndrome	Downturned corners of mouth, Brachydactyly, Submucous cleft hard palate, Tapered finger, Thin upp...	OMIM:619680
Meckel Syndrome, Type 5	Postaxial hand polydactyly, Bowing of the long bones, Cleft upper lip, Cleft palate, Postaxial fo...	OMIM:611561
Nijmegen Breakage Syndrome	Long nose, Anal stenosis, Sandal gap, Hyperactivity, Recurrent bronchitis, 2-3 toe syndactyly, Ch...	OMIM:251260
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Dysphagia	OMIM:618233
Alg9-Cdg	Narrow greater sciatic notch, Abnormal bone ossification, Rhizomelia, Gastroesophageal reflux, Hi...	ORPHA:79328
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Short long bone, Anal atresia, Congenital hip dislocation, Bilateral tal...	OMIM:306955
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Recurrent fractures, Osteomalacia	OMIM:613388
Summitt Syndrome	Plagiocephaly, Craniosynostosis	ORPHA:3210
Fanconi-Bickel Syndrome	Rickets, Bowing of the long bones, Osteopenia	ORPHA:2088
Glycogen Storage Disease Due To Acid Maltase Deficiency	Atelectasis, Respiratory insufficiency, Osteoporosis, Respiratory insufficiency due to muscle wea...	ORPHA:365
Velocardiofacial Syndrome	Retrognathia, Abnormality of the hand, Pulmonary artery atresia, Velopharyngeal insufficiency, Un...	OMIM:192430
Multiple Mitochondrial Dysfunctions Syndrome 7	Respiratory failure requiring assisted ventilation, Agitation, Hyperactivity, Anteverted nares, G...	OMIM:620423
Al Kaissi Syndrome	Postnatal growth retardation, Brachycephaly, Short stature, Intrauterine growth retardation, Atri...	OMIM:617694
Craniofrontonasal Dysplasia	Brachycephaly, Craniosynostosis, Frontal bossing, Plagiocephaly	ORPHA:1520
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Flat occiput, Severe short stature, Brachycephaly	ORPHA:2511
Amyotrophic Lateral Sclerosis	Agitation, Dysphagia, Respiratory failure, Xerostomia, Tongue atrophy	ORPHA:803
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Brachycephaly, Plagiocephaly	OMIM:618603
Joubert Syndrome 21	Single naris, Short ribs, Pulmonary hypoplasia, Dysphagia, Respiratory failure, Chronic sinusitis	OMIM:615636
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Plagiocephaly	OMIM:607313
Hypohidrotic Ectodermal Dysplasia	Anteverted nares, Abnormality of the dentition, Tooth agenesis, Sinusitis, Abnormal dental morpho...	ORPHA:238468
Birt-Hogg-Dubé Syndrome	Pneumothorax, Pulmonary sequestration, Emphysema	ORPHA:122
Lowe Oculocerebrorenal Syndrome	Rickets, Joint contracture of the hand, Genu valgum, Platyspondyly, Pathologic fracture, Osteomal...	OMIM:309000
Hyperparathyroidism, Transient Neonatal	Osteopenia, Subperiosteal bone formation, Gastroesophageal reflux, Thin ribs, Femoral bowing, Sho...	OMIM:618188
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Dysplastic pulmonary valve, Brachycephaly	OMIM:300958
Pentalogy Of Cantrell	Orofacial cleft, Abnormal tibia morphology, Non-midline cleft of the upper lip, Split hand, Cleft...	ORPHA:1335
Short Stature, Microcephaly, And Endocrine Dysfunction	Long nose, Tooth malposition, Broad nasal tip, Limb undergrowth, Prominent nasal bridge, Convex n...	OMIM:616541
Atrial Septal Defect, Ostium Primum Type	Cyanosis, Clubbing of fingers, Clubbing of toes, Recurrent respiratory infections, Pulmonary arte...	ORPHA:99106
Developmental And Epileptic Encephalopathy 1	Growth delay, Plagiocephaly	OMIM:308350
3-Methylglutaconic Aciduria Type 7	Pneumothorax, Respiratory failure	ORPHA:445038
Charcot-Marie-Tooth Disease Type 4C	Hypoventilation, Pes cavus, Pes valgus, Abnormal foot morphology, Hammertoe, Scoliosis, Tongue at...	ORPHA:99949
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Death in childhood, Dysphagia	OMIM:619847
Fryns Syndrome	Rocker bottom foot, Proximal placement of thumb, Meckel diverticulum, Prominent fingertip pads, I...	OMIM:229850
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Steatorrhea, Jaundice, Acholic stools, Fat malabsorption	OMIM:607765
Smith-Magenis Syndrome	Short stature, Abnormal heart morphology, Brachycephaly	OMIM:182290
Mogs-Cdg	Hypoventilation, Retrognathia, High palate, Thoracic scoliosis, Overlapping fingers	ORPHA:79330
Kleefstra Syndrome Due To A Point Mutation	Brachycephaly, Plagiocephaly, Short stature, Abnormal heart morphology, Umbilical hernia	ORPHA:261652
Cat Eye Syndrome	Rectal fistula, Anal stenosis, Meckel diverticulum, Total anomalous pulmonary venous return, Anal...	OMIM:115470
Kury-Isidor Syndrome	Growth delay, Frontal bossing, Ventricular septal defect, Brachycephaly	OMIM:619762
Combined Oxidative Phosphorylation Defect Type 23	Respiratory failure, Cyanosis	ORPHA:444013
Gomez-Lopez-Hernandez Syndrome	Brachycephaly, Turricephaly, Short stature, Craniosynostosis, Skull asymmetry	OMIM:601853
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
6Q25 Microdeletion Syndrome	Short stature, Plagiocephaly	ORPHA:251056
Microphthalmia, Syndromic 2	Sandal gap, Bifid uvula, Long philtrum, 2-3 toe cutaneous syndactyly, Radiculomegaly, Contracture...	OMIM:300166
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Brachycephaly	OMIM:619972
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Retrognathia, 2-3 toe cutaneous syndactyly, Long nose, High palate, Narrow mouth, Micrognathia, L...	OMIM:301091
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Brachycephaly	ORPHA:352530
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Wide nasal base, Broad alveolar ridges, Abnor...	ORPHA:79500
Cataract-Intellectual Disability-Hypogonadism Syndrome	Short stature, Brachycephaly	ORPHA:1387
Holoprosencephaly-Postaxial Polydactyly Syndrome	Abnormal lung lobation, Orofacial cleft, Postaxial hand polydactyly, Narrow mouth, Anal atresia, ...	ORPHA:2166
Fabry Disease	Anorexia, Abnormal femur morphology, Emphysema, Thick lower lip vermilion, Reduced bone mineral d...	ORPHA:324
Fanconi Anemia, Complementation Group N	Hypoplasia of the radius, Absent thumb, Short thumb, Anal atresia	OMIM:610832
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Short stature, Dextrotransposition of the great arteries, Ventricular septal defect, Brachycephaly	OMIM:619995
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Hypoxemia, Respiratory failure, Ano...	ORPHA:555874
Buerger Disease	Livedo reticularis, Acrocyanosis	ORPHA:36258
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure, Pes planus, Abnormality of the dentition	ORPHA:88618
Chromosome 2Q37 Deletion Syndrome	Short stature, Brachycephaly, Subvalvular aortic stenosis	OMIM:600430
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Triosephosphate Isomerase Deficiency	Respiratory insufficiency, Death in adolescence, Death in infancy, Respiratory insufficiency due ...	OMIM:615512
Poliomyelitis	Respiratory failure requiring assisted ventilation, Anorexia, Agitation, Stiff neck, Dysphagia, P...	ORPHA:2912
Alg12-Cdg	Abnormal bone ossification, Clinodactyly of the 5th finger, Proximal placement of thumb, Sandal g...	ORPHA:79324
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Esophageal atresia, Tracheoesophageal fistula, Bilateral talipes equinovarus,...	OMIM:614083
Chromosome 14Q11-Q22 Deletion Syndrome	Short nose, Hip subluxation, High palate, Narrow mouth, Micrognathia, Mesomelia, Long philtrum, M...	OMIM:613457
Autosomal Recessive Polycystic Kidney Disease	Polydipsia, Protein-losing enteropathy, Jaundice, Esophageal varix, Depressed nasal ridge, Sponta...	ORPHA:731
Intellectual Developmental Disorder, Autosomal Dominant 67	Posterior plagiocephaly	OMIM:619927
Ring Chromosome 7 Syndrome	Bifid uvula, Short 5th finger, Short philtrum, Anteverted nares, Cleft palate, Malar flattening, ...	ORPHA:1449
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Supernumerary tooth, Aplasia of the epiglottis, Short clavicles, Short long bone, Short ribs, Pos...	OMIM:617088
Congenital Bile Acid Synthesis Defect Type 2	Rickets, Steatorrhea, Jaundice, Prolonged neonatal jaundice, Fat malabsorption	ORPHA:79303
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Thick lower lip vermilion, Mandibular prognathia, Unilateral cleft palate, Wide mouth, Unilateral...	OMIM:619103
Chopra-Amiel-Gordon Syndrome	Short stature, Postnatal growth retardation, Brachycephaly	OMIM:619504
Neurofaciodigitorenal Syndrome	Triphalangeal thumb, Abnormal metacarpal morphology, Mandibular prognathia, Abnormality of the ph...	ORPHA:2673
Chronic Pneumonitis Of Infancy	Hypoxemia, Cyanosis, Hyperventilation	ORPHA:91359
Congenitally Uncorrected Transposition Of The Great Arteries	Hypoxemia, Anomalous pulmonary venous return, Cyanosis	ORPHA:860
Malignant Atrophic Papulosis	Intestinal perforation, Pleural effusion, Intestinal fistula, Telangiectasia of the skin, Respira...	ORPHA:679
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Plagiocephaly	OMIM:614563
Autosomal Recessive Cutis Laxa Type 1	Pneumothorax, Emphysema, Respiratory insufficiency, Pyloric stenosis, Recurrent pneumonia, Small ...	ORPHA:90349
Houge-Janssens Syndrome 2	Hydrocephalus, Plagiocephaly	OMIM:616362
Cutis Laxa, Autosomal Recessive, Type Iiia	Brachycephaly, Short stature, Frontal bossing, Umbilical hernia, Intrauterine growth retardation	OMIM:219150
Walker-Warburg Syndrome	Metatarsus valgus, Submucous cleft hard palate, Bifid uvula, Cleft palate	ORPHA:899
Richieri-Costa/Guion-Almeida Syndrome	Short stature, Brachycephaly, Spina bifida occulta	OMIM:268850
Aica-Ribosiduria Due To Atic Deficiency	Brachycephaly, Frontal bossing, Secundum atrial septal defect	OMIM:608688
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Respiratory insufficiency, Respiratory failure	OMIM:613845
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Genu valgum, Cleft soft palate, Intestinal malrotation, Downturned corners of mouth, Flexion cont...	OMIM:619321
Menke-Hennekam Syndrome 1	Everted upper lip vermilion, Sandal gap, Long philtrum, Overlapping toe, Joint hypermobility, Sho...	OMIM:618332
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Contractural Arachnodactyly, Congenital	Brachycephaly, Frontal bossing, Dolichocephaly, Mitral valve prolapse, Bicuspid aortic valve, Atr...	OMIM:121050
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Narrow nasal base, Wide nose, Cleft ala nasi, Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:3044
Restrictive Dermopathy	Osteopenia, Thin ribs, Temporomandibular joint ankylosis, Narrow mouth, Decreased skull ossificat...	ORPHA:1662
Celiac Disease, Susceptibility To, 1	Rickets, Steatorrhea, Recurrent aphthous stomatitis, Stomatitis, Osteoporosis, Enamel hypoplasia,...	OMIM:212750
Coffin-Siris Syndrome 1	Retrognathia, Duodenal ulcer, Sandal gap, Dislocated radial head, Prominent fingertip pads, Micro...	OMIM:135900
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Death in childhood, Death in adolescence, Osteoporosis	OMIM:560000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Plagiocephaly, Atrioventricular canal defect, Branchial anomaly, Pleural effusion, Increased nuch...	ORPHA:453499
Mosaic Variegated Aneuploidy Syndrome 1	Postnatal growth retardation, Brachycephaly, Hydrocephalus, Pulmonic stenosis, Short stature, Int...	OMIM:257300
Truncus Arteriosus	Abnormal lung lobation, Pulmonary edema, Pulmonary artery atresia, Pulmonary artery hypoplasia, P...	ORPHA:3384
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Plagiocephaly, Short stature, Growth delay, Craniosynostosis, Atrial septal defect, Ventricular s...	ORPHA:457193
Peters Plus Syndrome	Wide mouth, Long philtrum, Rhizomelia, Anteverted nares, Exaggerated cupid's bow, Micromelia, Int...	ORPHA:709
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Respiratory failure, Limb joint contracture	OMIM:620327
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Respiratory failure, Death in childhood	OMIM:617186
Developmental And Epileptic Encephalopathy 65	Plagiocephaly	OMIM:618008
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Nail bed telangiectasia, Cyanosis, Gastrointestinal arteriovenous malforma...	OMIM:187300
Intellectual Developmental Disorder, Autosomal Recessive 38	Plagiocephaly	OMIM:615516
Desanto-Shinawi Syndrome	Brachycephaly	OMIM:616708
Encephalopathy, Ethylmalonic	Petechiae, Acrocyanosis, Death in infancy	OMIM:602473
19P13.12 Microdeletion Syndrome	Brachycephaly, Intrauterine growth retardation, Craniosynostosis, Atrial septal defect, Ventricul...	ORPHA:254346
Whim Syndrome	Atelectasis, Severe periodontitis, Parotitis, Bronchiectasis, Sinusitis, Recurrent pneumonia, Res...	ORPHA:51636
Vulto-Van Silfhout-De Vries Syndrome	Brachycephaly, Frontal bossing	OMIM:615828
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Bilateral single transverse palmar creases, Retrognathia, Long nose, Clinodactyly of the 5th fing...	ORPHA:3047
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Plagiocephaly	OMIM:617481
2Q23.1 Microdeletion Syndrome	Short stature, Brachycephaly, Growth delay	ORPHA:228402
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Short stature, Plagiocephaly	OMIM:618089
Sepsis In Premature Infants	Purpura, Jaundice, Petechiae, Functional abnormality of the gastrointestinal tract, Enterocolitis...	ORPHA:90051
Congenital Tracheal Stenosis	Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Meckel di...	ORPHA:141127
Intellectual Developmental Disorder, Autosomal Dominant 23	Brachycephaly	OMIM:615761
Intellectual Disability-Strabismus Syndrome	Plagiocephaly, Polyhydramnios, Short stature, Intrauterine growth retardation, Atrial septal defect	ORPHA:363528
Chromosome 17P13.1 Deletion Syndrome	Brachycephaly, Plagiocephaly, Turricephaly, Hydrocephalus, Spina bifida, Umbilical hernia, Oligoh...	OMIM:613776
Infantile Krabbe Disease	Respiratory failure, Shoulder girdle muscle weakness, Ankle clonus	ORPHA:206436
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Slc39A8-Cdg	Osteopenia, Elbow flexion contracture, Limb undergrowth, Cutaneous syndactyly of toes, Knee flexi...	ORPHA:468699
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Death in childhood, Atelectasis, Respiratory insufficiency, Pulmonary fibrosis, Respiratory failu...	OMIM:618278
Chiari Malformation Type Ii	Cyanosis, Dysphagia	OMIM:207950
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
Hypermobile Ehlers-Danlos Syndrome	Rectal prolapse, High, narrow palate, Abnormal foot morphology, Pes planus, Anorectal anomaly, Ga...	ORPHA:285
Fg Syndrome Type 1	Plagiocephaly, Prominent occiput, Hydrocephalus, Short stature, Mitral valve prolapse, Umbilical ...	ORPHA:93932
Acquired Methemoglobinemia	Hypoxemia, Cyanosis	ORPHA:464453
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory insufficiency, Respiratory failure	OMIM:609015
Craniofacial Microsomia 1	Genu valgum, Transverse facial cleft, Branchial anomaly, Maxillozygomatic hypoplasia, Vertebral h...	OMIM:164210
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Short long bone, Femoral bowing, Short ribs, Acetabular spurs, Postaxial po...	OMIM:615503
Mitochondrial Phosphate Carrier Deficiency	Respiratory insufficiency, Cyanosis	OMIM:610773
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent lower respiratory tract infect...	OMIM:620233
Chromosome 1P36 Deletion Syndrome, Distal	Bifid uvula, Dysphagia, Abnormality of the anus, Long philtrum, Short 5th finger, Scoliosis, Camp...	OMIM:607872
Menkes Disease	Intrauterine growth retardation, Brachycephaly, Short stature	OMIM:309400
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Noonan Syndrome 13	Plagiocephaly, Atrial septal defect, Lymphedema, Mitral valve prolapse	OMIM:619087
Kleefstra Syndrome Due To 9Q34 Microdeletion	Brachycephaly, Aortic valve stenosis, Growth delay, Tetralogy of Fallot, Flat occiput, Conotrunca...	ORPHA:96147
Sacral Agenesis With Vertebral Anomalies	Abnormal vertebral morphology, Anal atresia, Vertebral clefting, Persistent cloaca, Neonatal deat...	OMIM:615709
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Intrauterine growth retardation, Frontal bossing, Plagiocephaly, Short stature	ORPHA:371364
Hypocomplementemic Urticarial Vasculitis	Pleural effusion, Angioedema, Emphysema, Arthritis	ORPHA:36412
Vater/Vacterl Association	Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb, Esophageal atresia, Choanal ...	OMIM:192350
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Plagiocephaly	OMIM:618731
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Short greater sciatic notch, Meckel diverticulum, Short ribs, Flare...	OMIM:312870
Frontofacionasal Dysplasia	Short stature, Brachycephaly, Encephalocele	ORPHA:1791
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Flat occiput, Plagiocephaly, Atrial septal defect, Hypertrophic cardiomyopathy	OMIM:619383
Telangiectasia, Hereditary Hemorrhagic, Type 2	Tongue telangiectasia, Oral cavity telangiectasia, Nail bed telangiectasia, Gastrointestinal arte...	OMIM:600376
Cerebellar Ataxia-Hypogonadism Syndrome	Short stature, Brachycephaly	ORPHA:1173
Chromosome 5P13 Duplication Syndrome	Brachycephaly, Craniosynostosis, Turricephaly, Frontal bossing	OMIM:613174
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Premature graying of hair, Emphysema, Osteopenia, Pulmonary fibrosis	OMIM:620365
Faciocardiorenal Syndrome	Plagiocephaly, Tricuspid valve prolapse, Endocardial fibroelastosis	ORPHA:1973
Nocardiosis	Pneumothorax, Anorexia, Emphysema, Pleuritis, Pleural effusion, Pneumonia, Respiratory failure, O...	ORPHA:31204
Constricting Bands, Congenital	Abnormal lung lobation, Tessier cleft, Cleft upper lip, Hand polydactyly, Cleft palate, Syndactyl...	OMIM:217100
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Brachycephaly, Frontal bossing, Polyhydramnios, Plagiocephaly	OMIM:617296
Achard Syndrome	Brachycephaly, Broad skull	OMIM:100700
Aicardi-Goutieres Syndrome 1	Purpura, Petechiae, Prolonged neonatal jaundice, Acrocyanosis, Multiple gastric polyps, Erythema	OMIM:225750
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Brachycephaly, Frontal bossing, Plagiocephaly	OMIM:618430
Xq28 (MECP2) duplication	Brachycephaly	DECIPHER:45
Pallister-Hall Syndrome	Mesoaxial polydactyly, Oligodactyly, Broad thumb, Bifid uvula, Polydactyly affecting the 3rd fing...	ORPHA:672
Craniorachischisis	Sirenomelia, Anal atresia, Bifid sternum	ORPHA:63260
Hypoadrenocorticism, Familial	Cyanosis	OMIM:240200
Wieacker-Wolff Syndrome, Female-Restricted	Short stature, Polyhydramnios, Brachycephaly	OMIM:301041
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect, Brachycephaly	OMIM:618798
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Dental crowding, Arachnodactyly, Bifid uvula, Syndactyly, Dysphagia, Adducted thumb, Long toe, Ag...	ORPHA:261537
Pfeiffer Syndrome Type 1	Bicoronal synostosis, Aqueductal stenosis, Brachycephaly	ORPHA:93258
Familial Dysautonomia	Gastroesophageal reflux, Scoliosis, Acrocyanosis, Recurrent fractures, Osteolysis	ORPHA:1764
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets	OMIM:611590
Tuberous Sclerosis Complex	Generalized abnormality of skin, Hyperactivity, Impulsivity, Respiratory tract infection, Repetit...	ORPHA:805
Coffin-Siris Syndrome 12	Hip subluxation, Gastroesophageal reflux, Scoliosis, High palate, Slender finger, Broad thumb, Mi...	OMIM:619325
Chromosome 13Q33-Q34 Deletion Syndrome	Brachycephaly, Anencephaly, Encephalocele, Pulmonic stenosis, Short stature, Trigonocephaly, Left...	OMIM:619148
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Plagiocephaly, Polyhydramnios, Turricephaly, Hydrocephalus, Frontal bossing	OMIM:613603
Neuroocular Syndrome	Retrognathia, Widely spaced teeth, Clinodactyly of the 5th finger, Short uvula, Sacral dimple, In...	OMIM:619539
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Holoprosencephaly 7	Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Cranial asymmetry, Lobar ho...	OMIM:610828
Proteus Syndrome	Macrodactyly, Bronchogenic cyst, Abnormal finger morphology, Calvarial hyperostosis, Tooth agenes...	ORPHA:744
Tetraamelia Syndrome 1	Single naris, Choanal atresia, Anal atresia, Hypoplastic pelvis, Cleft upper lip, Micrognathia, C...	OMIM:273395
Mowat-Wilson Syndrome	Dental crowding, Everted lower lip vermilion, Bifid uvula, Syndactyly, Dysphagia, Adducted thumb,...	ORPHA:2152
Ethylene Glycol Poisoning	Pulmonary edema, Addictive alcohol use, Gastritis, Cyanosis	ORPHA:31826
Tolchin-Le Caignec Syndrome	Clinodactyly of the 5th finger, High palate, Narrow mouth, Attention deficit hyperactivity disord...	OMIM:618971
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Bicuspid aortic valve, Frontal bossing, Atrial septal defect, Plagiocephaly	OMIM:619720
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Respiratory failure	ORPHA:3240
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
X-Linked Intellectual Disability, Wilson Type	Growth delay, Brachycephaly	ORPHA:85290
Distal Deletion 10Q	Postnatal growth retardation, Brachycephaly, Spina bifida occulta, Short stature, Frontal bossing...	ORPHA:96148
Microphthalmia With Linear Skin Defects Syndrome	Retrognathia, Wide nose, Abnormal dental enamel morphology, Abnormal rectum morphology, Mandibula...	ORPHA:2556
Aica-Ribosiduria	Brachycephaly	ORPHA:250977
Combined Oxidative Phosphorylation Deficiency 3	Respiratory insufficiency, Respiratory failure, Death in childhood, Death in infancy	OMIM:610505
Peripartum Cardiomyopathy	Respiratory failure, Pedal edema	ORPHA:563
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Brachycephaly	OMIM:620240
Cutis Laxa, Autosomal Dominant 1	Long philtrum, Emphysema, Prematurely aged appearance, Bronchiectasis, Convex nasal ridge, Poor w...	OMIM:123700
Malan Overgrowth Syndrome	Frontal bossing, Plagiocephaly, Scaphocephaly	ORPHA:420179
Autosomal Dominant Cutis Laxa	Osteopenia, Emphysema, Premature skin wrinkling, Joint hypermobility, Prematurely aged appearance...	ORPHA:90348
Dermatomyositis	Abnormal pulmonary interstitial morphology, Facial erythema, V-sign, Cutaneous photosensitivity, ...	ORPHA:221
Rabin-Pappas Syndrome	Hypoventilation, Retrognathia, Retinal telangiectasia, Tracheomalacia, Mandibular prognathia, Mic...	OMIM:620155
Treacher Collins Syndrome 1	Cleft soft palate, Narrow mouth, Micrognathia, Cleft palate, Wide mouth, Malar flattening, Abnorm...	OMIM:154500
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Death in childhood, Recurrent lower respiratory tract infections, Death in infancy, Neonatal resp...	OMIM:618426
Abetalipoproteinemia	Osteopenia, Steatorrhea, Respiratory failure, Fat malabsorption, Talipes equinovarus	ORPHA:14
Listeriosis	Jaundice, Stiff neck, Miscarriage, Septic arthritis, Pneumonia, Respiratory failure, Osteomyelitis	ORPHA:533
Netherton Syndrome	Urticaria, Recurrent respiratory infections, Emphysema	ORPHA:634
Leigh Syndrome	Respiratory failure, Multiple joint contractures, Dysphagia	ORPHA:506
20Q11.2 Microduplication Syndrome	Brachycephaly, Palpebral edema, Severe intrauterine growth retardation, Growth delay, Trigonoceph...	ORPHA:363659
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Lujo Hemorrhagic Fever	Purpura, Stiff neck, Atelectasis, Rhinitis, Ecchymosis, Dysphagia	ORPHA:319213
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Respiratory tract infection, Pneumonia, Respi...	ORPHA:79138
Combined Oxidative Phosphorylation Deficiency 37	Respiratory insufficiency, Respiratory failure	OMIM:618329
Holoprosencephaly 2	Solitary median maxillary central incisor, Bilateral cleft palate, Scoliosis, Median cleft palate...	OMIM:157170
Carnitine-Acylcarnitine Translocase Deficiency	Respiratory insufficiency, Cyanosis	ORPHA:159
Niemann-Pick Disease Type C	Jaundice, Respiratory insufficiency, Compulsive behaviors, Aspiration pneumonia, Abnormal lung mo...	ORPHA:646
Hemorrhagic Fever-Renal Syndrome	Pulmonary edema, Agitation, Petechiae, Pleural effusion, Epistaxis, Ecchymosis, Pneumonia, Respir...	ORPHA:340
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri...	OMIM:212093
Heterotaxy, Visceral, 7, Autosomal	Pulmonary artery atresia, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, I...	OMIM:616749
Distal Deletion 3P	Brachycephaly, Atrioventricular canal defect, Short stature, Umbilical hernia, Intrauterine growt...	ORPHA:1620
Aymé-Gripp Syndrome	Postnatal growth retardation, Brachycephaly, Plagiocephaly, Hydrocephalus, Short stature, Pericar...	ORPHA:1272
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Retrognathia, Short philtrum, Short long bone, Downturned corners of mouth, Recurrent infection o...	OMIM:301110
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Brachycephaly, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal defect, Ventricular se...	ORPHA:371428
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Obsessive-compulsive trait, Intestinal pseudo...	ORPHA:273
Eosinophilic Fasciitis	Arthritis, Acrocyanosis	ORPHA:3165
Relapsing Polychondritis	Purpura, Atelectasis, Recurrent aphthous stomatitis, Arthritis, Limitation of joint mobility, Cho...	ORPHA:728
Ethylmalonic Encephalopathy	Petechiae, Acrocyanosis	ORPHA:51188
Robinow-Sorauf Syndrome	Plagiocephaly, Pansynostosis, Craniosynostosis	OMIM:180750
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Bronchitis, Jaundice, Emphysema	ORPHA:60
Trisomy 20P	Brachycephaly, Plagiocephaly, Spina bifida, Frontal bossing, Dolichocephaly, Umbilical hernia	ORPHA:261318
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Dental crowding, Abnormal jaw morphology, Arachnodactyly, Bifid uvula, Syndactyly, Dysphagia, Add...	ORPHA:261552
Osteogenesis Imperfecta, Type Xx	Intrauterine growth retardation, Plagiocephaly, Brachycephaly, Disproportionate short-limb short ...	OMIM:618644
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hydrocephalus, Plagiocephaly, Brachycephaly, Short stature	ORPHA:500055
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Hypoventilation, Gastroesophageal reflux, Death in infancy, Knee contracture, Elbow contracture	OMIM:620275
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Brachycephaly	OMIM:616083
Histiocytoid Cardiomyopathy	Pulmonary edema, Cleft palate, Cyanosis	ORPHA:137675
Glycogen Storage Disease Of Heart, Lethal Congenital	Pulmonary edema, Macroglossia, Pleural effusion, Cyanosis	OMIM:261740
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis	OMIM:250800
Blepharophimosis-Impaired Intellectual Development Syndrome	Frontal bossing, Plagiocephaly	OMIM:619293
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Brachycephaly, Ventricular septal defect	OMIM:620073
Hallermann-Streiff Syndrome	Brachycephaly, Proportionate short stature, Spina bifida, Frontal bossing, Parietal bossing, Doli...	OMIM:234100
Ritscher-Schinzel Syndrome 4	Short stature, Plagiocephaly, Brachycephaly	OMIM:619435
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Brachycephaly, Plagiocephaly, Pulmonic stenosis, Short stature, Frontal bossing, Bicuspid aortic ...	OMIM:610759
Hyperphosphatasia-Intellectual Disability Syndrome	Brachycephaly, Plagiocephaly, Abnormal parietal bone morphology, Growth delay, Oligohydramnios	ORPHA:247262
Zygomycosis	Pneumothorax, Atelectasis, Gastritis, Acute infectious pneumonia, Pleural effusion, Nasal congest...	ORPHA:73263
Generalized Arterial Calcification Of Infancy	Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal calcification of the carpal bones, C...	ORPHA:51608
3-Methylglutaconic Aciduria, Type Viii	Jaundice, Death in infancy, Respiratory arrest, Neonatal death, Dysphagia, Respiratory failure	OMIM:617248
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Scoliosis, Gastroesophageal reflux, Acrocyanosis	OMIM:223900
Intellectual Developmental Disorder, Autosomal Dominant 53	Growth delay, Posterior plagiocephaly, Ventricular septal defect, Brachycephaly	OMIM:617798
Galloway-Mowat Syndrome 4	Short stature, Plagiocephaly	OMIM:617730
Smith-Magenis Syndrome	Delayed puberty, Frontal bossing, Brachycephaly, Short stature	ORPHA:819
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis	OMIM:261680
Cerebrooculonasal Syndrome	Postnatal growth retardation, Brachycephaly, Proboscis, Encephalocele, Hydrocephalus, Frontal bos...	OMIM:605627
Cutis Marmorata Telangiectatica Congenita	Short lower limbs, Cutis marmorata, Bowing of the legs, Telangiectasia	OMIM:219250
Frontonasal Dysplasia 3	Brachycephaly	OMIM:613456
Mitochondrial Complex I Deficiency, Nuclear Type 1	Respiratory insufficiency, Respiratory failure, Cyanosis, Death in infancy	OMIM:252010
Chromosome 2P16.1-P15 Deletion Syndrome	Intrauterine growth retardation, Postnatal growth retardation, Short stature, Brachycephaly	OMIM:612513
Mitochondrial Complex I Deficiency, Nuclear Type 9	Hypoventilation, Neonatal death	OMIM:618232
Nabais Sa-De Vries Syndrome, Type 1	Brachycephaly	OMIM:618828
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Popliteal Pterygium Syndrome	Spina bifida occulta, Cutaneous finger syndactyly, Cleft upper lip, Bifid uvula, Cleft palate, Lo...	OMIM:119500
Cystinosis	Rickets	ORPHA:213
Acrofrontofacionasal Dysostosis 2	Short stature, Brachycephaly	OMIM:239710
Primary Hyperoxaluria	Rootless teeth, Abnormality of the dentition, Cutis marmorata, Acrocyanosis, Generalized osteoscl...	ORPHA:416
Intellectual Developmental Disorder, Autosomal Dominant 64	Growth delay, Plagiocephaly	OMIM:619188
White-Sutton Syndrome	Brachycephaly, Patent foramen ovale, Short stature, Intrauterine growth retardation, Atrial septa...	OMIM:616364
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Warburg Micro Syndrome 4	Short stature, Brachycephaly, Severe postnatal growth retardation	OMIM:615663
Common Variable Immunodeficiency	Purpura, Emphysema, Recurrent bronchitis, Gastrointestinal stroma tumor, Bronchiectasis, Anal atr...	ORPHA:1572
Digeorge Syndrome	High, narrow palate, Atelectasis, Intervertebral disk degeneration, Short philtrum, High palate, ...	OMIM:188400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Postnatal growth retardation, Normal pressure hydrocephalus, Flat occiput, Plagiocephaly	ORPHA:300570
Den Hoed-De Boer-Voisin Syndrome	Intrauterine growth retardation, Oligohydramnios, Ventricular septal defect, Brachycephaly	OMIM:619229
Myasthenic Syndrome, Congenital, 21, Presynaptic	Meconium ileus, Cyanosis, Knee flexion contracture	OMIM:617239
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Growth delay, Brachycephaly	OMIM:300260
Developmental And Epileptic Encephalopathy 110	Posterior plagiocephaly	OMIM:620149
Unilateral Polymicrogyria	Pseudobulbar paralysis, Cyanosis, Epistaxis, Pulmonary arteriovenous malformation	ORPHA:268943
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Plagiocephaly, Umbilical hernia	OMIM:616579
Sweeney-Cox Syndrome	Flat occiput, Patent foramen ovale, Polyhydramnios, Brachycephaly	OMIM:617746
Multiple Pterygium-Malignant Hyperthermia Syndrome	Plagiocephaly, Polyhydramnios, Dolichocephaly, Severe short stature	ORPHA:2215
T-Cell Immunodeficiency With Thymic Aplasia	Bronchiectasis, Recurrent pneumonia, Emphysema, Recurrent bronchopulmonary infections	OMIM:242700
Ciliary Dyskinesia, Primary, 20	Respiratory insufficiency due to defective ciliary clearance, Atelectasis, Pulmonary artery steno...	OMIM:615067
Necrotizing Enterocolitis	Cyanosis	ORPHA:391673
Lig4 Syndrome	Growth delay, Brachycephaly, Biparietal narrowing	ORPHA:99812
Absence Of The Pulmonary Artery	Pulmonary edema, Recurrent pneumonia, Pulmonary hypoplasia, Bronchiectasis, Recurrent respiratory...	ORPHA:980
Congenital Disorder Of Glycosylation, Type Iq	Brachycephaly	OMIM:612379
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood	OMIM:618252
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of left pulmonary artery from ascending aorta, Anomalous origin of right pulmona...	ORPHA:99050
X-Linked Intellectual Disability Due To Gria3 Mutations	Short stature, Brachycephaly	ORPHA:364028
Schimmelpenning-Feuerstein-Mims Syndrome	Short stature, Cranial asymmetry, Growth delay	OMIM:163200
Double Outlet Left Ventricle	Pulmonary artery stenosis, Orofacial cleft, Cyanosis	ORPHA:3427
Immunodeficiency 89 And Autoimmunity	Bronchiectasis, Pleural thickening, Recurrent lower respiratory tract infections, Pulmonary bulla	OMIM:619632
Hypophosphatemic Rickets And Hyperparathyroidism	Rickets, Rachitic rosary, Hypophosphatemic rickets	OMIM:612089
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Complete Atrioventricular Septal Defect	Recurrent pneumonia, Cyanosis	ORPHA:1329
Acquired Purpura Fulminans	Macular purpura, Acrocyanosis	ORPHA:49566
Hoxha-Aliu Syndrome	Brachycephaly, Atrial septal defect, Perimembranous ventricular septal defect	OMIM:620662
2P15P16.1 Microdeletion Syndrome	Intrauterine growth retardation, Polyhydramnios, Brachycephaly, Growth delay	ORPHA:261349
De Barsy Syndrome	Postnatal growth retardation, Brachycephaly, Short stature, Umbilical hernia, Intrauterine growth...	ORPHA:2962
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Growth delay, Plagiocephaly, Hypertrophic cardiomyopathy	OMIM:615471
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Flat occiput, Exencephaly, Encephalocele, Brachycephaly	ORPHA:2211
Cardiac Valvular Dysplasia 2	Central cyanosis, Pulmonary artery dilatation	OMIM:620067
Congenital Disorder Of Glycosylation, Type Iia	Short stature, Ventricular septal defect, Postnatal growth retardation, Brachycephaly	OMIM:212066
7Q11.23 Microduplication Syndrome	Brachycephaly, Hydrocephalus, Aortic valve stenosis, Short stature, Growth delay, Dolichocephaly,...	ORPHA:96121
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Short stature, Brachycephaly	ORPHA:562528
Dihydropyrimidinase Deficiency	Growth delay, Plagiocephaly	OMIM:222748
Criss-Cross Heart	Respiratory insufficiency, Cyanosis	ORPHA:1461
Kleefstra Syndrome	Brachycephaly, Short stature, Tetralogy of Fallot, Bicuspid aortic valve, Ventricular septal defect	ORPHA:261494
Congenital Disorder Of Glycosylation, Type Iit	Short stature, Brachycephaly	OMIM:618885
Adenylosuccinase Deficiency	Growth delay, Brachycephaly	OMIM:103050
Linear Nevus Sebaceus Syndrome	Plagiocephaly, Prominent occiput, Biparietal narrowing, Growth delay, Frontal bossing	ORPHA:2612
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Tooth malposition, Bifid uvula, Failure of eruption of permanent teeth, Cleft palate, Submucous c...	ORPHA:2250
Axenfeld-Rieger Syndrome, Type 1	Anal stenosis, Short philtrum, Oligodontia, Microdontia, Anal atresia, Hypoplasia of the maxilla,...	OMIM:180500
Down Syndrome	Delayed puberty, Brachycephaly, Atrioventricular canal defect, Short stature, Secundum atrial sep...	ORPHA:870
Warburg Micro Syndrome 3	Postnatal growth retardation, Brachycephaly	OMIM:614222
Cerebrofaciothoracic Dysplasia	Short stature, Polyhydramnios, Brachycephaly	ORPHA:1394
Hypomagnesemia 3, Renal	Amelogenesis imperfecta, Rickets, Genu valgum, Short metacarpal, Enamel hypoplasia, Bowing of the...	OMIM:248250
19P13.13 Microdeletion Syndrome	Brachycephaly, Dolichocephaly, Increased nuchal translucency	ORPHA:357001
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Brachycephaly, Pulmonary valve atresia, Parachute mitral valve, Atrioventricular canal defect, Pa...	OMIM:265380
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Brachycephaly, Aqueductal stenosis, Plagiocephaly, Hydrocephalus, Frontal bossing, Atrial septal ...	OMIM:619512
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Anomalous pulmonary venous return, Cyanosis	ORPHA:99104
Central Hypoventilation Syndrome, Congenital, 1	Hypoventilation, Nocturnal hypoventilation, Aganglionic megacolon, Ineffective esophageal perista...	OMIM:209880
Intellectual Developmental Disorder, Autosomal Dominant 1	Short stature, Frontal bossing, Postnatal growth retardation, Brachycephaly	OMIM:156200
Down Syndrome	Brachycephaly, Atrioventricular canal defect, Patent foramen ovale, Ebstein anomaly of the tricus...	OMIM:190685
Cerebrooculonasal Syndrome	Brachycephaly	ORPHA:66625
Kleefstra Syndrome 1	Brachycephaly, Conotruncal defect	OMIM:610253
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Flat occiput, Brachycephaly	OMIM:618797
9P13 Microdeletion Syndrome	Short stature, Brachycephaly, Umbilical hernia	ORPHA:324313
Humeroradial Synostosis	Brachycephaly	OMIM:236400
Gorlin Syndrome	Hydrocephalus, Frontal bossing, Brachycephaly, Cardiac fibroma	ORPHA:377
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Steatorrhea, Osteoporosis, Osteomalacia, Colitis	ORPHA:309031
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Plagiocephaly, Atrioventricular canal defect, Spina bifida, Frontal bossing, Dolichocephaly	OMIM:619480
Arthrogryposis, Distal, Type 4	Cranial asymmetry	OMIM:609128
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Growth delay, Frontal bossing, Plagiocephaly	OMIM:617193
Osteogenesis Imperfecta, Type Xi	Short stature, Brachycephaly	OMIM:610968
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Rocker bottom foot, Tarsal synostosis, Ulnar bowing, Wide nose, Femoral bowing, Choanal atresia, ...	OMIM:201750
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets	OMIM:616026
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Lip telangiectasia, Spontaneous, recurrent epistaxis, Nasal mucosa telangi...	OMIM:610655
Lymphangioleiomyomatosis	Pneumothorax, Atelectasis, Emphysema, Recurrent respiratory infections, Chylothorax, Pulmonary ly...	ORPHA:538
Myasthenia Gravis	Rheumatoid arthritis, Dysphagia, Acrocyanosis	ORPHA:589
White-Sutton Syndrome	Short stature, Abnormal heart morphology, Brachycephaly	ORPHA:468678
Fontaine Progeroid Syndrome	Brachycephaly, Turricephaly, Hydrocephalus, Umbilical hernia, Short stature, Coronal craniosynost...	OMIM:612289
Postinfectious Vasculitis	Anorexia, Palpable purpura, Arthritis, Vasculitis in the skin, Recurrent streptococcus pneumoniae...	ORPHA:48435
Cystinosis, Nephropathic	Rickets, Genu valgum, Hypophosphatemic rickets, Rachitic rosary, Metaphyseal widening, Dysphagia	OMIM:219800
Developmental And Epileptic Encephalopathy 84	Plagiocephaly	OMIM:618792
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Retrognathia, Hypoventilation, Gastroesophageal reflux, Scoliosis, Osteoporosis, Dysp...	ORPHA:438213
Fanconi-Bickel Syndrome	Rickets, Osteomalacia	OMIM:227810
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Short stature, Atrial septal defect, Brachycephaly	OMIM:300968
Eisenmenger Syndrome	Clubbing, Hypoxemia, Aortopulmonary window, Cyanosis	ORPHA:97214
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Talipes valgus, Pes cavus, Flexion contracture, Ankle clonus, Submucous cleft hard palate	OMIM:618891
Carey-Fineman-Ziter Syndrome 1	Growth delay, Plagiocephaly, Abnormal cardiac septum morphology	OMIM:254940
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Gastroesophageal reflux, Scoliosis, Small intestinal dysmotility, Kyphosis, Inef...	OMIM:619482
Granulomatous Disease, Chronic, X-Linked	Atelectasis, Rectal abscess, Pleural effusion, Recurrent pneumonia, Osteomyelitis	OMIM:306400
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Brachycephaly, Pulmonic stenosis, Short stature, Double outlet right ventricle, Atrial septal defect	OMIM:618223
Wilson Disease	Jaundice, Osteomalacia, Esophageal varix, Hepatocellular carcinoma, Osteoporosis, Osteoarthritis,...	OMIM:277900
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Intrauterine growth retardation, Frontal bossing, Dolichocephaly, Plagiocephaly	OMIM:619005
Hamamy Syndrome	Brachycephaly, Craniosynostosis, Atrial septal defect, Complete atrioventricular canal defect	OMIM:611174
Immunodeficiency 82 With Systemic Inflammation	Duodenal ulcer, Villous atrophy, Gastritis, Anoperineal fistula, Oral ulcer, Arthritis, Crohn's d...	OMIM:619381
Trichohepatoneurodevelopmental Syndrome	Brachycephaly, Plagiocephaly, Polyhydramnios, Ventricular septal defect	OMIM:618268
Postpoliomyelitis Syndrome	Hypoventilation, Dysphagia	ORPHA:2942
Trisomy 9P	Brachycephaly	ORPHA:236
17Q11 Microdeletion Syndrome	Osteopenia, Diaphyseal dysplasia, Abnormality of the sphenoid sinus, Beaking of vertebral bodies ...	ORPHA:97685
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Plagiocephaly	ORPHA:2063
Chilton-Okur-Chung Neurodevelopmental Syndrome	Plagiocephaly, Posterior plagiocephaly, Polyhydramnios, Patent foramen ovale, Communicating hydro...	OMIM:619841
Joubert Syndrome 1	Occipital myelomeningocele, Plagiocephaly	OMIM:213300
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Brachycephaly, Restrictive cardiomyopathy, Abnormal heart morphology, Craniosynostosis, Atrial se...	ORPHA:369837
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Brachycephaly, Plagiocephaly, Transposition of the great arteries, Frontal bossing, Tetralogy of ...	OMIM:280000
Warburg Micro Syndrome 2	Postnatal growth retardation, Brachycephaly	OMIM:614225
Sotos Syndrome	Agenesis of permanent teeth, Prolonged neonatal jaundice, Joint hypermobility, Craniosynostosis, ...	ORPHA:821
Atrial Septal Defect, Ostium Secundum Type	Pneumonia, Cyanosis	ORPHA:99103
Kaufman Oculocerebrofacial Syndrome	Short stature, Atrial septal defect, Ventricular septal defect, Brachycephaly	OMIM:244450
Alpha-Mannosidosis, Infantile Form	Brachycephaly, Cranial hyperostosis, Communicating hydrocephalus, Umbilical hernia, Craniosynosto...	ORPHA:309282
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Osteomalacia	OMIM:600740
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Delayed puberty, Mild postnatal growth retardation, Brachycephaly	ORPHA:456312
Bifid Nose With Or Without Anorectal And Renal Anomalies	Brachycephaly, Ebstein anomaly of the tricuspid valve	OMIM:608980
Au-Kline Syndrome	Plagiocephaly, Lipomyelomeningocele, Dolichocephaly, Craniosynostosis, Sagittal craniosynostosis	OMIM:616580
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Short stature, Plagiocephaly, Postnatal growth retardation	OMIM:300749
Aicardi-Goutières Syndrome	Arthritis, Scoliosis, Prolonged neonatal jaundice, Cutis marmorata, Acrocyanosis, Multiple joint ...	ORPHA:51
Distal Renal Tubular Acidosis	Rickets, Osteomalacia, Reduced bone mineral density, Increased susceptibility to fractures	ORPHA:18
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Short stature, Plagiocephaly, Brachycephaly, Ascites	OMIM:301072
Craniofrontonasal Syndrome	Brachycephaly, Short stature, Frontal bossing, Coronal craniosynostosis, Umbilical hernia	OMIM:304110
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Hypoventilation, Short philtrum, Narrow mouth, Micrognathia, Dysphagia, Finger clinodactyly, Sagi...	OMIM:620455
Perry Syndrome	Hypoventilation, Central hypoventilation	OMIM:168605
Cardiogenic Shock	Hypoxemia, Cyanosis	ORPHA:97292
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Brachycephaly	OMIM:619244
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hypoventilation, Jaundice, Tracheomalacia, Scoliosis, Osteoporosis	OMIM:203700
Goodpasture Syndrome	Cyanosis, Reticular pattern on pulmonary HRCT, Hemosiderin-laden macrophages in bronchoalveolar f...	OMIM:233450
Hunter-Macdonald Syndrome	Brachycephaly, Short stature, Mitral valve prolapse, Umbilical hernia, Bicuspid aortic valve	OMIM:611962
Lig4 Syndrome	Brachycephaly	OMIM:606593
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Plagiocephaly, Turricephaly	OMIM:620224
Arboleda-Tham Syndrome	Plagiocephaly, Pulmonic stenosis, Growth delay, Frontal bossing, Secundum atrial septal defect, I...	OMIM:616268
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Delayed puberty, Plagiocephaly, Abnormal left ventricle morphology, Patent foramen ovale, Ebstein...	ORPHA:466791
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormality of the pulmonary artery, Premature graying of hair, Emphysema, Premature skin wrinkling	ORPHA:363618
Sarcoidosis	Pneumothorax, Emphysema, Chylothorax, Abnormal nasal mucosa morphology, Parotitis, Bone cyst, Ple...	ORPHA:797
Gapo Syndrome	Growth delay, Frontal bossing, Plagiocephaly, Umbilical hernia	OMIM:230740
Adnp Syndrome	Brachycephaly, Plagiocephaly, Short stature, Trigonocephaly, Umbilical hernia	ORPHA:404448
Microgastria-Limb Reduction Defect Syndrome	Plagiocephaly, Truncus arteriosus, Growth delay, Frontal bossing, Atrial septal defect	ORPHA:2538
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Delayed puberty, Brachycephaly, Hydrocephalus, Bacterial endocarditis, Mitral valve calcification...	ORPHA:2072
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Plagiocephaly, Polyhydramnios	OMIM:618548
Carpenter Syndrome 2	Brachycephaly, Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Trigono...	OMIM:614976
Hyperoxaluria, Primary, Type I	Pathologic fracture, Cutis marmorata, Increased bone mineral density, Acrocyanosis	OMIM:259900
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Short stature, Frontal bossing, Brachycephaly	OMIM:616728
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Brachycephaly	ORPHA:2988
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Plagiocephaly, Palpebral edema, Hydrocephalus, Dolichocephaly, Bicuspid aortic v...	OMIM:619475
Abnormal Hair, Joint Laxity, And Developmental Delay	Plagiocephaly	OMIM:261990
Distal Deletion 12Q	Brachycephaly, Patent foramen ovale, Short stature, Frontal bossing, Growth delay, Congenital hyp...	ORPHA:96149
9Q33.3Q34.11 Microdeletion Syndrome	Brachycephaly, Plagiocephaly	ORPHA:495818
Skin Creases, Congenital Symmetric Circumferential, 1	Brachycephaly	OMIM:156610
Ayme-Gripp Syndrome	Short stature, Pericarditis, Brachycephaly, Craniofacial asymmetry	OMIM:601088
Mandibuloacral Dysplasia Progeroid Syndrome	Postnatal growth retardation, Brachycephaly, Patent foramen ovale, Mitral valve calcification, Sh...	OMIM:619127
Frontofacionasal Dysplasia	Brachycephaly, Cranium bifidum occultum, Hypoplasia of the frontal bone	OMIM:229400
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Growth delay, Brachycephaly	OMIM:601353
Specc1L-Related Hypertelorism Syndrome	Brachycephaly, Tetralogy of Fallot, Umbilical hernia, Atrial septal defect, Ventricular septal de...	ORPHA:1519
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Delayed puberty, Postnatal growth retardation, Short stature, Brachycephaly	OMIM:616263
Arthrogryposis And Ectodermal Dysplasia	Short stature, Brachycephaly	OMIM:601701
Degcags Syndrome	Plagiocephaly, Polyhydramnios, Dysplastic pulmonary valve, Patent foramen ovale, Pulmonic stenosi...	OMIM:619488
Osteopetrosis With Renal Tubular Acidosis	Brachycephaly, Plagiocephaly, Short stature, Thickened calvaria, Oligohydramnios	ORPHA:2785
Congenital Total Pulmonary Venous Return Anomaly	Respiratory failure requiring assisted ventilation, Infracardiac total anomalous pulmonary venous...	ORPHA:99125
Faundes-Banka Syndrome	Delayed puberty, Plagiocephaly, Frontal bossing, Intrauterine growth retardation, Fetal ascites	OMIM:619376
Liver Disease, Severe Congenital	Left atrial enlargement, Plagiocephaly, Pulmonary edema, Patent foramen ovale, Intrauterine growt...	OMIM:619991
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Brachycephaly, Posterior plagiocephaly, Frontal bossing, Dolichocephaly, Umbilical hernia, Ventri...	OMIM:620330
X-Linked Intellectual Disability, Snyder Type	Short stature, Cerebral edema, Brachycephaly	ORPHA:3063
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Plagiocephaly	ORPHA:457284
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Delayed puberty, Anterior plagiocephaly, Bicoronal synostosis	OMIM:619718
Aortic Arch Interruption	Aortopulmonary window, Cyanosis	ORPHA:2299
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Brachycephaly, Frontal bossing	ORPHA:1236
X-Linked Intellectual Disability, Armfield Type	Short stature, Brachycephaly, Abnormal cardiac septum morphology	ORPHA:85276
Intellectual Developmental Disorder, Autosomal Dominant 29	Brachycephaly, Frontal bossing	OMIM:616078
Helsmoortel-Van Der Aa Syndrome	Posterior plagiocephaly, Short stature, Abnormal heart morphology, Mitral valve prolapse, Intraut...	OMIM:615873
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Brachycephaly, Perimembranous ventricular septal defect, Transposition of the great arteries, Mus...	OMIM:612474
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Brachycephaly, Tricuspid valve prolapse, Mitral valve prolapse, Umbilical hernia, Atrial septal d...	OMIM:601776
Hallermann-Streiff Syndrome	Brachycephaly, Frontal bossing, Proportionate short stature	ORPHA:2108
Autosomal Recessive Faciodigitogenital Syndrome	Short stature, Frontal bossing, Brachycephaly	ORPHA:1974
Renpenning Syndrome 1	Brachycephaly, Situs inversus totalis, Short stature, Tetralogy of Fallot, Atrial septal defect, ...	OMIM:309500
Encephalocraniocutaneous Lipomatosis	Bone cyst, Abnormal cartilage morphology, Craniofacial hyperostosis, Osteolysis	ORPHA:2396
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Brachycephaly, Polyhydramnios, Short stature, Frontal bossing, Intrauterine growth retardation	OMIM:617157
Infantile Nephropathic Cystinosis	Rickets	ORPHA:411629
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Postnatal growth retardation, Plagiocephaly, Short stature, Secundum atrial septal defect, Bicusp...	OMIM:613355
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Short stature, Plagiocephaly	OMIM:620083
Progressive Non-Infectious Anterior Vertebral Fusion	Brachycephaly	ORPHA:2062
1P36 Deletion Syndrome	Brachycephaly, Abnormal heart valve morphology, Short stature, Frontal bossing, Tetralogy of Fall...	ORPHA:1606
Mowat-Wilson Syndrome	Aganglionic megacolon, Widely spaced teeth, Tooth malposition, Delayed eruption of teeth, Pyloric...	OMIM:235730
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus, Plagiocephaly, Short stature	ORPHA:3042
Primary Fanconi Renotubular Syndrome	Osteomalacia, Hypophosphatemic rickets, Increased susceptibility to fractures	ORPHA:3337
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Brachycephaly	ORPHA:521445
Kbg Syndrome	Short stature, Brachycephaly	OMIM:148050
Familial Hypocalciuric Hypercalcemia	Peptic ulcer, Osteomalacia	ORPHA:405
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis, Pulmonary artery atresia	ORPHA:216694
Congenital Myopathy 13	Short stature, Brachycephaly	OMIM:255995
Monosomy 9P	Trigonocephaly, Calvarial skull defect, Brachycephaly	ORPHA:261112
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Short stature, Trigonocephaly, Brachycephaly, Craniosynostosis	OMIM:309590
Congenital Fibrosis Of Extraocular Muscles	Plagiocephaly	ORPHA:45358
14Q22Q23 Microdeletion Syndrome	Short stature, Brachycephaly	ORPHA:264200
Faciodigitogenital Syndrome, Autosomal Recessive	Brachycephaly, Proportionate short stature	OMIM:227330
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Craniosynostosis, Plagiocephaly	ORPHA:1521
Congenital Disorder Of Deglycosylation 1	Brachycephaly	OMIM:615273
Trichorhinophalangeal Syndrome, Type Ii	Plagiocephaly, Growth delay, Right ventricular hypertrophy, Partial anomalous pulmonary venous re...	OMIM:150230
6Q Terminal Deletion Syndrome	Plagiocephaly, Dolichocephaly	ORPHA:75857
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Delayed puberty, Brachycephaly, Cardiomyopathy, Short stature, Atrial septal defect	ORPHA:480880
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short stature, Brachycephaly	OMIM:610442
Aspartylglucosaminuria	Short stature, Thickened calvaria, Brachycephaly	OMIM:208400
Microphthalmia, Syndromic 6	Brachycephaly, Plagiocephaly, Lambdoidal craniosynostosis	OMIM:607932

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pkdcc

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pkdcc.

No publications found that use IMPC mice or data for Pkdcc.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Pkdcc^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Pkdcc^{tm92111(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Pkdcc MGI:2147077

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Gross Morphology Embryo E9.5

Gross Morphology Embryo E14.5-E15.5

MicroCT E14.5-E15.5

Gross Morphology Embryo E18.5

Human diseases caused by Pkdcc mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data