Gene Summary

C030019K18Rik,  1810041M12Rik,  4933427L07Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 System Allele Zyg Sex Life Stage P Value
short tibia Dymem1(IMPC)Tcp HOM Early adult 0.00
abnormal bone structure Dymem1(IMPC)Tcp HOM Early adult 4.37×10-12
decreased circulating triglyceride level Dymem1(IMPC)Tcp HOM Early adult 4.52×10-10
abnormal seminal vesicle morphology Dymem1(IMPC)Tcp HOM Early adult 0.00
preweaning lethality, incomplete penetrance Dymem1(IMPC)Tcp HOM   Early adult 0.00
increased grip strength Dymem1(IMPC)Tcp HOM Early adult 9.38×10-05
increased mean corpuscular volume Dymem1(IMPC)Tcp HOM Early adult 2.93×10-06
decreased prepulse inhibition Dymem1(IMPC)Tcp HOM   Early adult 1.66×10-05
increased circulating alanine transaminase level Dymem1(IMPC)Tcp HOM Early adult 4.06×10-26
decreased body length Dymem1(IMPC)Tcp HOM Early adult 1.24×10-21
decreased circulating HDL cholesterol level Dymem1(IMPC)Tcp HOM Early adult 1.85×10-07
decreased bone mineral content Dymem1(IMPC)Tcp HOM Early adult 2.58×10-07
enlarged urinary bladder Dymem1(IMPC)Tcp HOM Early adult 0.00
increased circulating alkaline phosphatase level Dymem1(IMPC)Tcp HOM Early adult 6.36×10-18
decreased circulating cholesterol level Dymem1(IMPC)Tcp HOM Early adult 9.46×10-11
increased circulating aspartate transaminase level Dymem1(IMPC)Tcp HOM Early adult 5.96×10-14
increased startle reflex Dymem1(IMPC)Tcp HOM Early adult 3.35×10-07
abnormal joint morphology Dymem1(IMPC)Tcp HOM Early adult 8.74×10-05

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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.



7 Images

Eye Morphology

Images Ophthalmoscopy

104 Images


XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

15 Images

Gross Pathology and Tissue Collection


9 Images


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Dym 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.

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

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

Disease Similarity of
Matching phenotypes Source
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Macrocephaly, Scoliosis, Hip dislocation, Proximal placement of thumb, Thoracic kyphoscoliosis, M... OMIM:613330
Lethal Kniest-Like Dysplasia
Macrocephaly, Hypoplastic ilia, Short neck, Coronal cleft vertebrae, Mesomelic/rhizomelic limb sh... ORPHA:2347
Metatropic Dysplasia
Scoliosis, Relatively short spine, Anisospondyly, Flared iliac wing, Halberd-shaped pelvis, Metap... OMIM:156530
Acrocapitofemoral Dysplasia
Short distal phalanx of finger, Scoliosis, Short tibia, Small finger, Micromelia, Flared iliac wi... OMIM:607778
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Limb undergrowth, Coronal cleft vertebrae, Malar flattening, Short tibia, Short 4th metacarpal, S... OMIM:118651
Diastrophic Dysplasia
Short finger, Small for gestational age, Scoliosis, Ulnar deviation of finger, Lumbar hyperlordos... OMIM:222600
Intellectual Disability, Buenos-Aires Type
Hydronephrosis, Biparietal narrowing, Abnormal calvaria morphology, High palate, Cuboid-shaped th... ORPHA:3079
Oligodontia, Parietal bossing, Diaphyseal thickening, Short sternum, Absent paranasal sinuses, Pr... OMIM:224300
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Hip dysplasia, Rhizomelia, Wide distal femoral metaphysis, Short femur, Short femo... OMIM:619598
Macrocephaly, Pectus excavatum, Abnormal metaphysis morphology, Flat occiput, Hypoplastic vertebr... ORPHA:2746
Fibrochondrogenesis 2
Thoracic hypoplasia, Hypoplastic ilia, Metaphyseal cupping, Short ribs, Metaphyseal widening, Mal... OMIM:614524
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Rhizomelia, Failure to thrive, Short femur, Epiphyseal stippling OMIM:600121
Spondylometaphyseal Dysplasia, Corner Fracture Type
Scoliosis, Hyperconvex vertebral body endplates, Genu varum, Ovoid vertebral bodies, Corner fract... OMIM:184255
Macrocephaly, Scoliosis, Renal phosphate wasting, Metaphyseal cupping, Rhizomelia, Posterior rib ... OMIM:258480
Axial Spondylometaphyseal Dysplasia
Scoliosis, Acromesomelia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Thoracic s... ORPHA:168549
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Plagiocephaly, Scoliosis, Vertebral fusion, Abnormality of the upper urinary tract, Abnormal form... ORPHA:2916
X-Linked Intellectual Disability, Cabezas Type
Macrocephaly, Camptodactyly of finger, Biparietal narrowing, Scoliosis, Pes cavus, Cachexia, Toe ... ORPHA:85293
Macrocephaly, Craniofacial hyperostosis, Abnormal metaphysis morphology, Irregular vertebral endp... ORPHA:1782
Atelosteogenesis, Type I
Clubbing, Long clavicles, Rhizomelia, Short metatarsal, Cleft palate, Knee dislocation, Fibular a... OMIM:108720
Schneckenbecken Dysplasia
Macrocephaly, Advanced ossification of carpal bones, Cleft palate, Metaphyseal irregularity, Brac... OMIM:269250
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Metaphyseal cupping, Pes cavus, Irregular capital femoral epiphysis, Short femoral... OMIM:616716
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Scoliosis, Hip dysplasia, Preaxial foot polydactyly, Cleft palate, S... ORPHA:1988
Three M Syndrome 1
Hip dislocation, Short 5th finger, Dolichocephaly, Hypoplastic pelvis, Thick lower lip vermilion,... OMIM:273750
Hydronephrosis, Biparietal narrowing, Radial club hand, Renal hypoplasia/aplasia, Cleft palate, M... ORPHA:3305
Seckel Syndrome 4
Retrognathia, 11 pairs of ribs, Steep acetabular roof, Microcephaly, Severe failure to thrive, De... OMIM:613676
Thoracomelic Dysplasia
Abnormality of fibula morphology, Abnormal metaphysis morphology, Limb undergrowth, Short neck, S... ORPHA:1803
Acrodysostosis 1 With Or Without Hormone Resistance
Calvarial hyperostosis, Scoliosis, Short metatarsal, Epiphyseal stippling, Cone-shaped epiphyses ... OMIM:101800
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Biparietal narrowing, Camptodactyly of finger, Abnormal calvaria morphology, Scoliosis, Finger sy... ORPHA:1323
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short finger, Scoliosis, Hypoplastic inferior ilia, Metaphyseal cupping, Metaphyseal widening, Rh... OMIM:608940
Rhizomelic Dysplasia, Patterson-Lowry Type
Deviation of finger, Short humerus, Abnormal form of the vertebral bodies, Rhizomelia, Mandibular... ORPHA:2831
Greenberg Dysplasia
Macrocephaly, Absent or minimally ossified vertebral bodies, Long clavicles, Metaphyseal cupping,... OMIM:215140
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Rhizomelia, Short metatarsal, Short metacarpal, Deformed humeral heads, Platyspond... OMIM:601438
Schneckenbecken Dysplasia
Macrocephaly, Hypoplastic ilia, Abnormal metaphysis morphology, Lateral clavicle hook, Short neck... ORPHA:3144
Acromesomelic Dysplasia 2A
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Pes valgus, Acro... OMIM:200700
Thanatophoric Dysplasia, Type I
Macrocephaly, Cloverleaf skull, Hypoplastic ilia, Thoracic hypoplasia, Short greater sciatic notc... OMIM:187600
Spinal Dysplasia, Anhalt Type
Narrow anterio-posterior vertebral body diameter, Thoracic hemivertebrae, Thoracolumbar scoliosis... OMIM:601344
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Macrocephaly, Metaphyseal cupping, Rhizomelia, Thin ribs, Wafer-thin platyspondyly, Micromelia, M... OMIM:151210
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Micromelia, Metaphyseal irregularity, Thin vermilion border, Coxa vara, Central verteb... OMIM:602557
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Micropenis, Short tibia, Short femur, Narrow mouth, Thin vermilion border, Microcephaly, Hypoplas... OMIM:612447
Three M Syndrome 2
Thin ribs, Short 5th finger, Dolichocephaly, Small for gestational age, Short neck, Malar flatten... OMIM:612921
Caudal Regression Syndrome
Abnormal iliac wing morphology, Scoliosis, Ectopic kidney, Missing ribs, Hypoplastic vertebral bo... ORPHA:3027
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Unilateral cleft lip, Cleft palate, Microcephaly, Multiple rib fractures, Hydronephrosis, Small f... OMIM:616897
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Scoliosis, Oligodontia, Short thumb, Cleft palate, Carpal synostosis, Fi... ORPHA:90652
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Short humerus, Asymmetric radial dysplasia, Elbow dislocation, Absent radius, Genu varum, Phocome... OMIM:171480
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Abnormality of the wrist, Abnormality of the elbow, Hypoplasia of penis, Micromeli... ORPHA:2491
Atelosteogenesis Type Ii
Increased femoral anteversion, Rhizomelia, Cleft palate, Micromelia, Hypoplastic cervical vertebr... ORPHA:56304
Toluene Embryopathy
Hydronephrosis, Biparietal narrowing, Tapered finger, Thin vermilion border, Microcephaly, Smooth... ORPHA:1920
Achondrogenesis Type 2
Hypoplastic ilia, Short ribs, Midface retrusion, Micromelia, Delayed proximal femoral epiphyseal ... ORPHA:93296
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Limb undergrowth, Metaphyseal widening, Short ribs, Lumbar platyspondyly, Increased intervertebra... OMIM:618961
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Camptodactyly of finger, Bifid uvula, Flattened epiphysis, Kyphoscoliosis, Short phalanx of finge... OMIM:612350
Thanatophoric Dysplasia, Type Ii
Cloverleaf skull, Hypoplastic ilia, Short greater sciatic notch, Short ribs, Micromelia, Platyspo... OMIM:187601
Leri-Weill Dyschondrosteosis
Abnormality of the humerus, Scoliosis, Increased carrying angle, Short tibia, Dorsal subluxation ... OMIM:127300
Omodysplasia 2
Short humerus, Scoliosis, Micropenis, Dislocated radial head, Broad femoral neck, Micrognathia, L... OMIM:164745
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Postaxial foot polydactyly, Horizontal ribs, Lateral clavicle hook, Short ribs, Trident acetabulu... OMIM:617405
Fibrodysplasia Ossificans Progressiva
Scoliosis, Hallux valgus, Abnormality of the first metatarsal bone, Metaphyseal widening, Widely ... OMIM:135100
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormality of the elbow, Micromelia, Humeroradial synostosis, ... ORPHA:2019
Muenke Syndrome
Clinodactyly, Macrocephaly, Coronal craniosynostosis, Plagiocephaly, High palate, Brachycephaly, ... OMIM:602849
Syndactyly Type 4
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo... ORPHA:93405
Bone Dysplasia, Lethal Holmgren Type
Abnormal diaphysis morphology, Short neck, Short ribs, Rhizomelia, Abnormality of the elbow, Abno... ORPHA:1842
Fibrochondrogenesis 1
Long clavicles, Posterior vertebral hypoplasia, Rhizomelia, Thin ribs, Broad long bones, Cleft pa... OMIM:228520
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Scoliosis, Irregular chondrocostal junctions, Slender build, Irregular vertebral... OMIM:187760
Pallister-Hall-Like Syndrome
Macrocephaly, Postaxial foot polydactyly, Hip dislocation, Micropenis, Short ribs, Cleft palate, ... OMIM:241800
Macrocephaly, Rhizomelia, Radial bowing, Bowing of the legs, Brachydactyly, Malar flattening, Sev... OMIM:100800
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Lateral clavicle hook, Abnormal form of the vertebral bodies, Sho... ORPHA:1801
Camptodactyly Syndrome, Guadalajara Type 1
Abnormality of dental eruption, Short distal phalanx of finger, Camptodactyly of finger, Toe synd... ORPHA:1327
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Biparietal narrowing, Scoliosis, Hip dislocation, Finger syndactyly, Synostosis of carpal bones, ... ORPHA:1005
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Short humerus, High palate, Hip dislocation, Lumbar hyperlordosis, Malar flattening, Rhizomelia, ... OMIM:602471
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Single transverse palmar crease, Polycystic kidney dysplasia, Thoracic hypoplasia, Preaxial polyd... OMIM:617866
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hepatomegaly, Osteopenia, Erlenmeyer flask deformity of the femurs, Intention tremor, Thr... OMIM:610539
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Scoliosis, Abnormality of the dentition, Hip dysplasia, Mandibula... ORPHA:1858
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Short distal phalanx of finger, Polydactyly, Agenesis of permanent t... OMIM:614091
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, High palate, Scoliosis, Irregular vertebral endplates, Coronal cleft vertebrae, Rh... OMIM:222765
Isotretinoin Syndrome
Biparietal narrowing, Sacral dimple, Cleft palate, Spina bifida occulta, Micrognathia ORPHA:2305
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short metacarpal, Broad metacarpals, Microcephaly, Broad phalanx, Decreased bod... OMIM:618724
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Horizontal ribs, Hypoplastic ilia, Lateral clavicle hook, Postaxial polydact... OMIM:617895
Holoprosencephaly-Craniosynostosis Syndrome
Craniosynostosis, Plagiocephaly, Short distal phalanx of finger, Brachycephaly, Hypoplastic verte... ORPHA:2163
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Small for gestational age, Short neck, Metaphyseal cupping, Flat acetabular roof, Short ribs, Sev... OMIM:613320
Holoprosencephaly, Semilobar, With Craniosynostosis
Short distal phalanx of finger, Coronal craniosynostosis, Hypoplastic vertebral bodies, Coxa valg... OMIM:601370
Autosomal Dominant Omodysplasia
Short humerus, Malar flattening, Rhizomelia, Patellar dislocation, Hypoplasia of penis, Long phil... ORPHA:93328
Diastrophic Dysplasia
Macrocephaly, Camptodactyly of finger, Scoliosis, Hip dysplasia, Proximal placement of thumb, Cle... ORPHA:628
Léri-Weill Dyschondrosteosis
Abnormality of the humerus, Short tibia, Micromelia, Dorsal subluxation of ulna, Madelung deformi... ORPHA:240
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Scoliosis, Metaphyseal cupping, Metaphyseal irregularity, Coxa vara, Brachydactyly, Metaphyseal w... OMIM:250420
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Polycystic kidney dysplasia, Scoliosis, Enlarged kidney, Cleft palate, Bifid tongue, Cleft upper ... OMIM:613091
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Cleft palate, Spinal rigidity, Small epiphyses, Cervical instability, Short neck, Flat... ORPHA:94068
Maxillonasal Dysplasia, Binder Type
Short distal phalanx of finger, Vertebral clefting, Dental malocclusion, Patchy distortion of ver... OMIM:155050
Humero-Radio-Ulnar Synostosis
Elbow ankylosis, Abnormality of the ureter, Aplasia/Hypoplasia of the thumb, Abnormal metacarpal ... ORPHA:3266
Hypophosphatasia, Infantile
Craniosynostosis, Rachitic rosary, Short lower limbs, Abnormality of the dentition, Nephrocalcino... OMIM:241500
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Thoracic dysplasia, Thoracic hypoplasia, Lateral clavicle hook, Chronic kidney disease, Short rib... OMIM:615630
Rubinstein-Taybi Syndrome 2
High palate, Retrognathia, Short first metatarsal, Talon cusp, Syndactyly, Increased overbite, Br... OMIM:613684
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus excavatum, Scoliosis, Short ribs, Missing ribs, Pectus carinatum, Pseudoarthrosis OMIM:618155
Multiple Synostoses Syndrome 1
Lower limb undergrowth, Absent distal phalanges, Carpal synostosis, Short hallux, Single transver... OMIM:186500
Frontometaphyseal Dysplasia
Short distal phalanx of finger, Camptodactyly of finger, Scoliosis, Oligodontia, Bifid uvula, Pes... ORPHA:1826
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Small for gestational age, Butterfly vertebrae, Micropenis, Progressive microcepha... OMIM:607143
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Biparietal narrowing, Abnormality of the philtrum, Abnormality of the ureter, Renal hypoplasia/ap... ORPHA:1770
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Macrocephaly, Pectus excavatum, Ureteral stenosis, Scoliosis, Nephrocalcinosis, Brachycephaly, Re... OMIM:615398
Acromesomelic Dysplasia 2C
Single transverse palmar crease, Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia ... OMIM:201250
Langer Mesomelic Dysplasia
Lumbar hyperlordosis, Radial bowing, Hypoplasia of the radius, Short tibia, Mesomelia, Short femo... OMIM:249700
Gm1 Gangliosidosis Type 1
Macroglossia, Spatulate ribs, Hypoplastic vertebral bodies, Broad metacarpals, Increased urinary ... ORPHA:79255
Macroglossia, Macrocephaly, Craniofacial hyperostosis, Scoliosis, Hip dysplasia, Hypoplastic infe... ORPHA:61
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Metaphyseal widening, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic scapulae, Midface retrus... ORPHA:440354
Osebold-Remondini Syndrome
Type A brachydactyly, Decreased finger mobility, Abnormality of the vertebral column, Hypoplasia ... OMIM:112910
Gurrieri Syndrome
Hypoplastic iliac wing, Hypoplastic acetabulae, Decreased anterioposterior diameter of lumbar ver... OMIM:601187
Osteogenesis Imperfecta, Type X
Scoliosis, Rhizomelia, Thin ribs, Micromelia, Thoracic scoliosis, Multiple rib fractures, Tibial ... OMIM:613848
Fibular Hemimelia
Oligodactyly, Increased laxity of ankles, Short tibia, Toe syndactyly, Short toe, Fibular aplasia... ORPHA:93323
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Scoliosis, Retrognathia, Lumbar scoliosis, Advanced ossification of carpal bones, Coxa valga, Cle... OMIM:620269
Seckel Syndrome 1
Scoliosis, Hip dislocation, Selective tooth agenesis, Cleft palate, Microcephaly, Single transver... OMIM:210600
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Long clavicles, Rhizomelic leg shortening, Abnormal acetabulum morphology, Proximal femoral metap... ORPHA:397715
Metatropic Dysplasia
Camptodactyly of finger, Scoliosis, Abnormal metaphysis morphology, Long thorax, Abnormal form of... ORPHA:2635
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Scoliosis, Abnormal calcification of the carpal bones, Broad long bones, Atlantoaxial instability... OMIM:271665
Bent Bone Dysplasia Syndrome 2
Short 1st metacarpal, Short lower limbs, Butterfly vertebrae, Micropenis, Short neck, Coronal cle... OMIM:620076
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
High palate, Mandibular prognathia, Relative macrocephaly, Tapered finger, Long fingers, Dental m... OMIM:618292
Acrootoocular Syndrome
Grayish enamel, Short toe, Supernumerary tooth, Microcephaly, Kyphoscoliosis, Palmar hyperkeratos... ORPHA:2980
Lethal Faciocardiomelic Dysplasia
Radial club hand, Short thumb, Hypoplasia of the radius, Short tibia, Narrow mouth, Microretrogna... ORPHA:1972
Melnick-Needles Syndrome
Short distal phalanx of finger, Hip dislocation, Tooth malposition, Cleft palate, Cone-shaped epi... OMIM:309350
Short Rib-Polydactyly Syndrome
Polycystic kidney dysplasia, Abnormality of the kidney, Abnormal long bone morphology, Polydactyl... ORPHA:1505
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hypochromia, Siderobl... OMIM:205950
Thanatophoric Dysplasia Type 1
Macrocephaly, Cloverleaf skull, Hypoplastic ilia, Abnormality of the kidney, Abnormal metaphysis ... ORPHA:1860
Mosaic Trisomy 9
Biparietal narrowing, Camptodactyly of finger, Scoliosis, Hip dislocation, Horseshoe kidney, Mult... ORPHA:99776
Poland Syndrome
Short ribs, Syndactyly, Hemivertebrae, Unilateral oligodactyly, Unilateral brachydactyly, Sprenge... OMIM:173800
Kyphomelic Dysplasia
Undulate ribs, Cleft palate, Micromelia, Bowed humerus, Radial bowing, Cleft upper lip, Tibial bo... OMIM:211350
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Scoliosis, Selective tooth agenesis, Hydroureter, Cleft palate, Carpal s... OMIM:305620
Ring Chromosome 8 Syndrome
Deviation of finger, Hydronephrosis, Abnormal palate morphology, Abnormality of the ureter, Front... ORPHA:1450
Richieri Costa-Da Silva Syndrome
Abnormality of the dentition, Distal lower limb muscle weakness, Short neck, Vertebral wedging, N... ORPHA:3101
Spondylometaphyseal Dysplasia, Type A4
Enlargement of the costochondral junction, Narrow greater sciatic notch, Metaphyseal sclerosis, O... OMIM:609052
Chondrodysplasia, Blomstrand Type
Malar flattening, Short ribs, Advanced ossification of carpal bones, Micromelia, Narrow chest, Fl... OMIM:215045
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Partial duplication of the distal phalanx of the hallux, Bifid uvula, Bifid dista... ORPHA:2669
Atelosteogenesis Type I
Thoracic hypoplasia, Scoliosis, Abnormality of fibula morphology, Absent or minimally ossified ve... ORPHA:1190
Cleidocranial Dysplasia 1
Spondylolysis, Scoliosis, Hip dislocation, Parietal bossing, Cleft palate, Spondylolisthesis, Nar... OMIM:119600
Achondrogenesis, Type Ii
Horizontal ribs, Brachycephaly, Short ribs, Absent vertebral body mineralization, Broad long bone... OMIM:200610
Craniosynostosis 3
Bicoronal synostosis, Left unicoronal synostosis, Hallux valgus, Right unicoronal synostosis, Den... OMIM:615314
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short distal phalanx of finger, Scoliosis, Vertebral wedging, Biconvex vertebral bodies, Metaphys... ORPHA:93315
Paget Disease Of Bone 5, Juvenile-Onset
Short humerus, Macrocephaly, Premature loss of teeth, Lateral femoral bowing, Relative macrocepha... OMIM:239000
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Short tibia, Incomplete cleft of the upper lip, Unicoronal synostosis, Cleft palate, ... OMIM:616300
Van Den Ende-Gupta Syndrome
Thin ribs, Cleft palate, Narrow mouth, Scaphocephaly, Narrow foot, Joint contracture of the hand,... OMIM:600920
8P23.1 Microdeletion Syndrome
Biparietal narrowing, Pes planus, High palate, Enlarged thorax, Proximal placement of thumb, Shor... ORPHA:251071
Autosomal Dominant Spondylocostal Dysostosis
Macrocephaly, Abnormal sacrum morphology, Scoliosis, Short neck, Missing ribs, Cleft palate, Prom... ORPHA:1797
Poland Syndrome
Absent hand, Abnormality of the humerus, Scoliosis, Asymmetry of the thorax, Finger symphalangism... ORPHA:2911
Orofaciodigital Syndrome Type 6
Biparietal narrowing, Mesoaxial polydactyly, Cleft palate, Lobulated tongue, Brachydactyly, Hand ... ORPHA:2754
Scoliosis, Wind-swept deformity of the knees, Increased laxity of ankles, Irregular epiphyses, Ir... ORPHA:750
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Clavicular sclerosis, Dental malocclusion, Thickened c... OMIM:144750
Pelviscapular Dysplasia
Macrocephaly, Hypoplastic ilia, Congenital hip dislocation, Short neck, Abnormality of the joint ... ORPHA:93333
Gm1-Gangliosidosis, Type Ii
Scoliosis, Limb undergrowth, Hypoplastic vertebral bodies, Coxa valga, Failure to thrive, Platysp... OMIM:230600
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... OMIM:620058
Mucopolysaccharidosis, Type Iiid
Heparan sulfate excretion in urine, Macrocephaly, Macroglossia, Hip dysplasia, Short neck, Pes ca... OMIM:252940
Multiple Epiphyseal Dysplasia Type 4
Scoliosis, Hip dysplasia, Short thumb, Metatarsal synostosis, Flattened epiphysis, Rhizomelia, Sh... ORPHA:93307
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Thoracic dysplasia, Macrocephaly, Lateral clavicle hook, Preaxial polydactyly, Postaxial polydact... OMIM:615503
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Patellar aplasia, Wide capital femoral epiphyses, High palate, Patellar hypoplasia, Patellar disl... OMIM:147891
Holt-Oram Syndrome
Aplasia of the ulna, Short humerus, Limited elbow extension, Aplasia of the pectoralis major musc... OMIM:142900
1Q44 Microdeletion Syndrome
Biparietal narrowing, High palate, Scoliosis, Horseshoe kidney, Frontal bossing, Microcephaly, Th... ORPHA:238769
Achondrogenesis, Type Ia
Micromelia, Turricephaly, Hypoplasia of the radius, Bowing of the legs, Short neck, Abnormal foot... OMIM:200600
Robinow Syndrome, Autosomal Dominant 2
Macrocephaly, Short distal phalanx of finger, Oligodontia, Calvarial osteosclerosis, Cleft palate... OMIM:616331
Atelosteogenesis, Type Ii
Scoliosis, Short greater sciatic notch, Cleft palate, Micromelia, Lacunar halos around chondrocyt... OMIM:256050
2p15-16.1 microdeletion syndrome
Hydronephrosis, Camptodactyly of finger, Microcephaly DECIPHER:70
Cono-Spondylar Dysplasia
Short humerus, Short lower limbs, Scoliosis, Short neck, Kyphosis, Midface retrusion, Failure to ... ORPHA:420794
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flared femoral metaphysis, Flat distal femoral epiphysis, Abnormality of the hand, Broad femoral ... OMIM:609324
Teebi-Shaltout Syndrome
Oligodontia, Horseshoe kidney, Rocker bottom foot, Cleft palate, Narrow mouth, Prominent palatine... OMIM:272950
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal chondrodysplasia, Short lower limbs, Scoliosis, Abnormal metaphysis morphology, Hip d... ORPHA:2501
Meier-Gorlin Syndrome 1
Thin ribs, Cleft palate, Narrow mouth, Aplasia/Hypoplasia of the patella, Microcephaly, Cutaneous... OMIM:224690
Rudiger Syndrome
Micropenis, Short digit, Single transverse palmar crease, Frontal bossing, High axial triradius, ... OMIM:268650
Acromesomelic Dysplasia, Grebe Type
Short tibia, Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Micromelia, Aplasia/Hyp... ORPHA:2098
Acrofacial Dysostosis Syndrome Of Rodriguez
Single transverse palmar crease, Oligodactyly, High palate, Overlapping toe, Wide anterior fontan... OMIM:201170
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Biparietal narrowing, Brachycephaly, Malar flattening, Brachydactyly, Short distal phalanx of toe... ORPHA:1292
Spondyloepimetaphyseal Dysplasia, Shohat Type
Thoracic hypoplasia, Scoliosis, Central vertebral hypoplasia, Genu varum, Metaphyseal widening, L... ORPHA:93352
Harrod Syndrome
High palate, Scoliosis, Kyphosis, Failure to thrive, Abnormal pelvic girdle bone morphology, Narr... ORPHA:2115
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Hydronephrosis, Plagiocephaly, Retrognathia, Trigonocephaly, Thin ribs, Slender... OMIM:618265
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Camptodactyly, Short neck, Metaphyseal widening, Short ribs, Equinovarus deformity, Advanced ossi... OMIM:224400
Short Stature, Brussels Type
Macrocephaly, Horseshoe kidney, Delayed epiphyseal ossification, Microretrognathia, Narrow chest,... ORPHA:2867
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion, Hallux valgus, Microcephaly, Kyphoscoliosis OMIM:615541
Plagiocephaly, Camptodactyly of finger, Abnormal metaphysis morphology, Abnormal diaphysis morpho... ORPHA:2021
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Biparietal narrowing, Microretrognathia, Long philtrum, Thick vermilion border, Hypoplasia of the... ORPHA:228396
Melnick-Needles Syndrome
Short distal phalanx of finger, Scoliosis, Hip dislocation, Tooth malposition, Anisospondyly, Con... ORPHA:2484
3Q29 Microduplication Syndrome
Craniosynostosis, Biparietal narrowing, Camptodactyly of toe, Macrocephaly, High palate, Abnormal... ORPHA:251038
Enlarged thorax, Absent or minimally ossified vertebral bodies, Short neck, Missing ribs, Multipl... ORPHA:66637
Intrinsic Factor Deficiency
Reduced haptoglobin level, Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased m... OMIM:261000
Cerebrocostomandibular Syndrome
Scoliosis, Horseshoe kidney, Cleft palate, Microcephaly, Carious teeth, 11 pairs of ribs, Malar f... OMIM:117650
Larsen-Like Syndrome
Macrocephaly, Radial deviation of the 4th finger, Brachycephaly, Malar flattening, Wide anterior ... OMIM:608545
Spondylolysis, Scoliosis, Osteolytic defects of the distal phalanges of the hand, Rhizomelia, Spo... ORPHA:763
Thrombocytopenia-Absent Radius Syndrome
Abnormality of the kidney, Hip dislocation, Scoliosis, Horseshoe kidney, Patellar dislocation, Cl... ORPHA:3320
15Q Overgrowth Syndrome
Abnormal renal morphology, Macrocephaly, Scoliosis, Bifid uvula, Horseshoe kidney, Dolichocephaly... ORPHA:314585
Auriculocondylar Syndrome 2
Macrocephaly, Temporomandibular joint ankylosis, Short mandibular rami, Cleft palate, Dental crow... OMIM:614669
Ellis-Van Creveld Syndrome
Postaxial foot polydactyly, Horizontal ribs, Cone-shaped epiphyses of phalanges 2 to 5, Abnormali... OMIM:225500
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Long clavicles, Fifth finger distal phalanx clinodactyly, Cleft palate, ... ORPHA:2839
Sickle Cell Anemia
Leukocytosis, Reticulocytosis, Hemolytic anemia, Pigment gallstones, Hypochromic anemia, Osteopor... ORPHA:232
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hypoplastic ilia, Limb undergrowth, Short neck, Short ribs, Broad long bones, Anisospondyly, Tali... ORPHA:1865
Non-Distal Deletion 10Q
Biparietal narrowing, Overlapping fingers, Clinodactyly of the 5th finger, Bilateral single trans... ORPHA:1581
Angioosteohypotrophic Syndrome
Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Hypertrophy of the upper li... ORPHA:75508
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Tooth agenesis, Flattened epiphysis, Truncal obesity, Advanced ossification of carpal ... OMIM:618363
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Malar flattening, Irregularity of vertebral bodies, Platyspondyly, Short palm, Microcephaly, Smal... ORPHA:85172
Endove Syndrome, Limb-Only Type
Hydronephrosis, 3-4 finger syndactyly, Vesicoureteral reflux, Triangular tibia, Disproportionate ... OMIM:619217
Metaphyseal Chondrodysplasia, Schmid Type
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... ORPHA:174
Orofaciodigital Syndrome Viii
High palate, Polydactyly, Short tibia, Syndactyly, Cleft palate, Median cleft lip OMIM:300484
Metaphyseal Chondrodysplasia, Jansen Type
Metaphyseal chondrodysplasia, Tooth malposition, Nephrocalcinosis, Brachycephaly, Metaphyseal cup... OMIM:156400
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormality of femur morphology, Aplasia/Hypoplasia of the fibula, Abnormality of the lower limb,... ORPHA:2141
Anauxetic Dysplasia 2
Macroglossia, Posterior wedging of vertebral bodies, Cervical spine instability, Ovoid vertebral ... OMIM:617396
Brachyolmia Type 1, Hobaek Type
Scoliosis, Short neck, Flat acetabular roof, Sclerotic foci of metaphyses of the elbow, Short ili... OMIM:271530
Achondrogenesis, Type Ib
Hypoplastic ilia, Absent or minimally ossified vertebral bodies, Malar flattening, Short ribs, Mi... OMIM:600972
Occipital Horn Syndrome
Pelvic bone exostoses, Limited knee extension, Hydronephrosis, Coxa valga, Limited elbow extensio... OMIM:304150
Microphthalmia With Limb Anomalies
Hip dislocation, Abnormal form of the vertebral bodies, Horseshoe kidney, Short tibia, Abnormalit... ORPHA:1106
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Macrocephaly, Metaphyseal cupping, Hypoplasia of the calcaneus, Rhizomelia, Thin ribs, Platyspond... OMIM:300863
16Q24.3 Microdeletion Syndrome
Biparietal narrowing, High palate, Scoliosis, Hip dysplasia, Proximal placement of thumb, Solitar... ORPHA:261250
Fetal Akinesia Deformation Sequence 4
Camptodactyly, High palate, Retrognathia, Short neck, 11 pairs of ribs, Kyphosis, Rocker bottom f... OMIM:618393
Macrocephaly, Limited elbow extension, Lumbar hyperlordosis, Genu varum, Malar flattening, Short ... OMIM:146000
Duane-Radial Ray Syndrome
Scoliosis, Short thumb, Horseshoe kidney, Aplasia of metacarpal bones, Shoulder dislocation, Hypo... OMIM:607323
Codas Syndrome
Short humerus, Broad skull, Congenital hip dislocation, Scoliosis, Proximal placement of thumb, L... OMIM:600373
Odontotrichoungual-Digital-Palmar Syndrome
Single transverse palmar crease, Short distal phalanx of finger, Prominent interdigital folds, Ma... OMIM:601957
Craniosynostosis 1
Craniosynostosis, Biparietal narrowing, Right unicoronal synostosis, Oxycephaly, Prominent occipu... OMIM:123100
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Short humerus, Asymmetric radial dysplasia, Radial club hand, Deep philtrum, Ectrodactyly, Abnorm... ORPHA:2878
Obsolete: Acrodysostosis With Multiple Hormone Resistance
Scoliosis, Hypoplasia of the nasal bone, Malar flattening, Obesity, Short metatarsal, Short phala... ORPHA:280651
Weaver Syndrome
Macrocephaly, Scoliosis, Calcaneovalgus deformity, Pes cavus, Broad thumb, Single transverse palm... OMIM:277590
Mucolipidosis Iii Alpha/Beta
Craniosynostosis, Scoliosis, Short ribs, Broad ribs, Mandibular prognathia, Short long bone, Shal... OMIM:252600
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Iliac crest serration, Microcephaly, Multicentric ossification of pr... OMIM:223800
Monosomy 18Q
Biparietal narrowing, Pectus excavatum, Open mouth, Slender build, Micropenis, High palate, Mandi... ORPHA:1600
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... OMIM:200500
Robinow Syndrome, Autosomal Recessive 1
Macrocephaly, Short distal phalanx of finger, Scoliosis, Renal duplication, Nephrocalcinosis, Apl... OMIM:268310
Smith-Lemli-Opitz Syndrome
Biparietal narrowing, Scoliosis, Hip dislocation, Tooth agenesis, Talipes calcaneovalgus, Proxima... ORPHA:818
Aplasia of the ulna, Short humerus, Absent hand, Abnormal metaphysis morphology, Absent radius, A... ORPHA:931
Potocki-Lupski Syndrome
Abnormal renal morphology, Small for gestational age, Scoliosis, High palate, Trigonocephaly, Man... OMIM:610883
Abnormal thoracic spine morphology, Biparietal narrowing, Postaxial foot polydactyly, High palate... ORPHA:46059
Lig4 Syndrome
Biparietal narrowing, Brachycephaly, Hypoplasia of penis, Thin vermilion border, Microcephaly, Mi... ORPHA:99812
Smith-Mccort Dysplasia 1
Scoliosis, Atlantoaxial instability, Irregular epiphyses, Metaphyseal irregularity, Dolichocephal... OMIM:607326
Cranioectodermal Dysplasia 1
Broad distal phalanges of all fingers, Short distal phalanx of finger, Flattened epiphysis, Rhizo... OMIM:218330
Mulibrey Nanism
Hypoplastic frontal sinuses, Enamel hypoplasia, Absent frontal sinuses, Dental crowding, Dental m... OMIM:253250
Spondylometaphyseal Dysplasia, Sedaghatian Type
Horizontal inferior border of scapula, Metaphyseal cupping, Rhizomelia, Short toe, Metaphyseal ir... OMIM:250220
Infantile Liver Failure Syndrome 3
Hypoplastic vertebral bodies, Abnormality of the epiphysis of the femoral head, Platyspondyly, Ab... OMIM:618641
Orofaciodigital Syndrome Type 10
Oligodactyly, Metatarsal synostosis, Polysyndactyly of hallux, Short tibia, Short toe, Fibular ap... ORPHA:2756
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Bifid uvula, Trigonocephaly, Short metatarsal, Rhizomelia, Widely spaced teeth, Short toe, Smooth... OMIM:266920
Atelosteogenesis Type Iii
Abnormality of the humerus, Hip dislocation, Short tibia, Patellar dislocation, Knee dislocation,... ORPHA:56305
Momo Syndrome
Congenital pseudoarthrosis of the clavicle, Macrocephaly, Long foot, High palate, Brachycephaly, ... ORPHA:2563
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Nail-Patella Syndrome
Thickening of the lateral border of the scapula, Scoliosis, Hypoplastic radial head, Iliac horns,... OMIM:161200
Mesomelia-Synostoses Syndrome
Abnormality of the humerus, Aplasia/Hypoplasia of the uvula, Metatarsal synostosis, Abnormality o... ORPHA:2496
Trichorhinophalangeal Syndrome, Type I
Scoliosis, Coxa magna, Short metatarsal, Narrow palate, Carious teeth, Flat capital femoral epiph... OMIM:190350
Joubert Syndrome With Renal Defect
Biparietal narrowing, Scoliosis, Hand polydactyly, Renal insufficiency, Nephropathy, Cleft palate... ORPHA:220497
Pyle Disease
Absent paranasal sinuses, Limited elbow extension, Scoliosis, Hypoplastic frontal sinuses, Metaph... OMIM:265900
Basal Cell Nevus Syndrome 1
Macrocephaly, Scoliosis, Polydactyly, Odontogenic keratocysts of the jaw, Vertebral wedging, Pari... OMIM:109400
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Macrocephaly, Agenesis of permanent teeth, Cleft palate, Broad thumb, Narrow mouth, Microcephaly,... ORPHA:251028
Craniosynostosis, Abnormal renal morphology, Camptodactyly of finger, Scoliosis, Abnormal long bo... ORPHA:356961
Cardiofaciocutaneous Syndrome
Macrocephaly, Hydronephrosis, Biparietal narrowing, Scoliosis, Pectus excavatum, High palate, Sho... ORPHA:1340
Prieto Syndrome
Abnormality of the dentition, Retrognathia, Coxa valga, Patellar subluxation, Patellar dislocatio... OMIM:309610
Microcephaly-Micromelia Syndrome
Craniosynostosis, Oligodactyly, Forearm undergrowth, Absent radius, Short neck, Missing ribs, Sho... OMIM:251230
Mcdonough Syndrome
Pectus excavatum, Scoliosis, Abnormal palate morphology, Mandibular prognathia, Kyphosis, Cachexi... ORPHA:2471
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Broad long bones, Narrow mouth, Thin vermilion border, ... OMIM:257850
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Abnormal renal collecting system morphology, Scoliosis, Preaxial foo... OMIM:134780
Seckel Syndrome 5
Oligodontia, Scoliosis, Retrognathia, Selective tooth agenesis, High palate, 11 pairs of ribs, En... OMIM:613823
Joubert Syndrome With Oculorenal Defect
Biparietal narrowing, Hand polydactyly, Scoliosis, Renal insufficiency, Nephropathy, Foot polydac... ORPHA:2318
Tibial Aplasia-Ectrodactyly Syndrome
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Short femur,... ORPHA:3329
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polycystic kidney dysplasia, Polysyndactyly of hallux, Cleft palate, Microglossia, Preaxial hand ... OMIM:263520
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Hydronephrosis, Hand polydactyly, Absent radius, Enlarged kidney, Proximal placeme... OMIM:314390
Macrocephaly, Benign Familial
Macrocephaly, Biparietal narrowing, Dolichocephaly, Long philtrum, Frontal bossing OMIM:153470
Legg-Calvé-Perthes Disease
Cartilage destruction, Abnormality of the dentition ORPHA:2380
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Abnormality of the costochondral junction, Atlantoaxial instabili... ORPHA:79345
Congenital Disorder Of Glycosylation, Type Iig
Progressive microcephaly, Rhizomelia, Cleft palate, Narrow mouth, Thoracic scoliosis, Microcephal... OMIM:611209
Fetal Alcohol Syndrome
Biparietal narrowing, Microdontia, Cleft palate, Smooth philtrum, Microcephaly, Non-midline cleft... ORPHA:1915
Epiphyseal Dysplasia, Multiple, 7
Genu varum, Flat acetabular roof, Advanced ossification of carpal bones, Vertebral wedging, Monke... OMIM:617719
Branchioskeletogenital Syndrome
Bifid uvula, Thin vermilion border, Microcephaly, Carious teeth, Premature loss of teeth, Uretera... ORPHA:1299
Short-Rib Thoracic Dysplasia 12
Macrocephaly, Median cleft lip and palate, Short toe, Lobulated tongue, Bowing of the legs, Brach... OMIM:269860
15Q14 Microdeletion Syndrome
Biparietal narrowing, Scoliosis, Abnormality of the dentition, Kyphosis, Cleft palate, Long philt... ORPHA:261190
Meier-Gorlin Syndrome 3
Patellar aplasia, Micropenis, Genu varum, Short thorax, Short ribs, Patellar hypoplasia, Slender ... OMIM:613803
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Biparietal narrowing, Renal cyst, Glossoptosis, Multicystic kidney dysplasia, Clinodactyly of the... ORPHA:2031
Orofaciodigital Syndrome Ix
Camptodactyly, Hand polydactyly, High palate, Abnormality of the dentition, Short tibia, Accessor... OMIM:258865
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis, High palate, Proximal radial head dislocation, Proximal placement of thumb, Solit... OMIM:602418
Orofaciodigital Syndrome Iv
Short finger, Lobulated tongue, Pectus excavatum, Hand polydactyly, High palate, Postaxial polyda... OMIM:258860
Campomelic Dysplasia
Macrocephaly, Shortening of all phalanges of the toes, Hip dislocation, Scoliosis, Thin ribs, Cle... OMIM:114290
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Metaphyseal irregularity, Hypoplastic pelvis, Cone-shaped epiphyses of the p... OMIM:208500
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Scoliosis, Hip dysplasia, Broad thumb, Short distal phalanx of the 5th finger, 11 pairs of ribs, ... OMIM:620073
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pectus excavatum, High palate, Midface retrusion, Prominent sternum, Anterior open-bite malocclus... OMIM:617877
Joubert Syndrome
Biparietal narrowing, Scoliosis, Hand polydactyly, Foot polydactyly, Orofacial cleft, Abnormal fo... ORPHA:475
Blepharophimosis-Impaired Intellectual Development Syndrome
Recurrent urinary tract infections, Enuresis, Short distal phalanx of finger, Plagiocephaly, Scol... OMIM:619293
Cdags Syndrome
Coronal craniosynostosis, Brachycephaly, Rectourethral fistula, Malar flattening, Short ribs, Kyp... OMIM:603116
Mesomelic Dysplasia, Savarirayan Type
Abnormal thorax morphology, Hip dislocation, Short tibia, Dislocated radial head, Mesomelia, Abno... OMIM:605274
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Abnormal blood potassium concentration, Reticulocytosis, Poly... ORPHA:3202
Ivic Syndrome
Short 1st metacarpal, Small thenar eminence, Scoliosis, Absent thumb, Short thumb, Preaxial polyd... OMIM:147750
Gm1-Gangliosidosis, Type I
Scoliosis, Short neck, Hypoplastic vertebral bodies, Kyphosis, Thickened ribs, Beaking of vertebr... OMIM:230500
Momo Syndrome
Macrocephaly, Long foot, High palate, Brachycephaly, Short neck, Taurodontia, Large hands, Long p... OMIM:157980
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Abnormality of the tibial plateaux, Cleft palate, Flattened femoral head, Hump-shaped ... ORPHA:93284
Stuve-Wiedemann Syndrome 1
Scoliosis, Clubbing, Absent patellar reflexes, Contracture of the proximal interphalangeal joint ... OMIM:601559
Primary Pulmonary Hypoplasia
Ureteral stenosis, Patellar hypoplasia, Failure to thrive, Cleft palate, Microcephaly, Micrognathia ORPHA:2257
Carpenter Syndrome 1
Scoliosis, Agenesis of permanent teeth, Hydroureter, Preaxial foot polydactyly, Aplasia/Hypoplasi... OMIM:201000
Hand-Foot-Genital Syndrome
Proximal placement of thumb, Ureteropelvic junction obstruction, Short 5th finger, Short hallux, ... OMIM:140000
Smith-Mccort Dysplasia 2
Flattened epiphysis, Short metatarsal, Flattened femoral head, Metaphyseal irregularity, Short ph... OMIM:615222
Acro-Renal-Ocular Syndrome
Short thumb, Horseshoe kidney, Toe syndactyly, Short hallux, Preaxial hand polydactyly, Triphalan... ORPHA:959
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, High palate, Secondary microcephaly, Failure to thrive in infancy, Knee flexion c... ORPHA:85285
Spondylometaphyseal Dysplasia, Kozlowski Type
Short distal phalanx of finger, Scoliosis, Short greater sciatic notch, Absent epiphyses of the p... ORPHA:93314
Peho Syndrome
Biparietal narrowing, Open mouth, Abnormal palate morphology, Malar flattening, Midface retrusion... ORPHA:2836
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis, Scoliosis, Congenital hip dislocation, Widely spaced teeth, Dislocation of the fe... OMIM:619797
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Enlargement of the costochondral junction, Lumbar hyperlordosis, Short m... OMIM:271650
Infantile-Onset X-Linked Spinal Muscular Atrophy
High palate, Short ribs, Knee flexion contracture, Cupped ribs, Ankle flexion contracture, Hip co... ORPHA:1145
Intellectual Disability And Myopathy Syndrome
Limited elbow extension, Scoliosis, Congenital hip dislocation, Lumbar hyperlordosis, Achilles te... OMIM:619719
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Scoliosis, Epiphyseal stippling, Single transverse palmar crease, Hypoplastic pelvis, Cleft upper... OMIM:308050
Joubert Syndrome With Ocular Defect
Biparietal narrowing, Scoliosis, Hand polydactyly, Cleft palate, Foot polydactyly, Abnormal verte... ORPHA:220493
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Cleft palate, Horizontal ribs, Micropenis, Brachycephaly, Lateral clavicle hook, Sho... OMIM:617925
Image Syndrome
Hydronephrosis, Micromelia, Metaphyseal dysplasia, Frontal bossing, Hypospadias ORPHA:85173
Cri-Du-Chat Syndrome
Abnormality of the kidney, Scoliosis, Bifid uvula, Short metatarsal, Microcephaly, Single transve... OMIM:123450
Schinzel-Giedion Midface Retraction Syndrome
Short distal phalanx of finger, Long clavicles, Hydroureter, Single transverse palmar crease, Sho... OMIM:269150
Cleft Palate, Isolated
Micrognathia, Cleft palate, Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Hand-Foot-Genital Syndrome
Recurrent urinary tract infections, Short distal phalanx of finger, Vesicoureteral reflux, Short ... ORPHA:2438
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft lower alveolar ridge, Hip dislocation, Short thumb, Proximal placement of thumb, Bifid uvul... OMIM:268305
Campomelic Dysplasia
Hydronephrosis, Macrocephaly, Scoliosis, Hip dislocation, Hypoplastic inferior ilia, Short neck, ... ORPHA:140
Robinow Syndrome
Macrocephaly, Short distal phalanx of finger, Scoliosis, Fused thoracic vertebrae, Tooth malposit... ORPHA:97360
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemoglobin con... OMIM:616689
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Macrocephaly, Scoliosis, Metaphyseal cupping, Irregular epiphyses, M... OMIM:184260
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Scoliosis, Flattened epiphysis, Rhizomelia, Dislocated radial head, Knee fl... ORPHA:166016
Macdermot-Winter Syndrome
Hydronephrosis, Camptodactyly of finger, Microcephaly OMIM:247990
Pseudodiastrophic Dysplasia
Elbow dislocation, Camptodactyly, Scoliosis, Lumbar hyperlordosis, Brachycephaly, Short neck, Mal... OMIM:264180
Tibial Hemimelia
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Increased laxity of ankle... ORPHA:93322
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Rhizomelia, Unilateral renal agenesis, Hemivertebrae, Talipes, Narrow che... OMIM:617661
Recombinant Chromosome 8 Syndrome
Hydronephrosis, Camptodactyly, Scoliosis, Pectus excavatum, Brachycephaly, Secondary microcephaly... OMIM:179613
Epiphyseal Dysplasia, Multiple, 4
Scoliosis, Hip dysplasia, Short metacarpal, Limited elbow flexion, Double-layered patella, Hypopl... OMIM:226900
Orofaciodigital Syndrome Vi
Incomplete cleft of the upper lip, Cleft palate, Preaxial foot polydactyly, Toe syndactyly, Fibul... OMIM:277170
C Syndrome
Biparietal narrowing, Horseshoe kidney, Trigonocephaly, Cleft palate, Micromelia, Toe syndactyly,... ORPHA:1308
Paget Disease Of Bone 2, Early-Onset
Premature loss of teeth, Sandwich appearance of vertebral bodies, Vertebral compression fracture,... OMIM:602080
Osteopathia Striata With Cranial Sclerosis
Macrocephaly, Scoliosis, Bifid uvula, Cleft palate, Fibular aplasia, Multicystic kidney dysplasia... OMIM:300373
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Abnormality of the humerus, Hip dislocation, High palate, Abnorma... ORPHA:3098
Symbrachydactyly Of Hands And Feet
Abnormality of the humerus, Scoliosis, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia o... ORPHA:1570
Blomstrand Lethal Chondrodysplasia
Short thorax, Metaphyseal cupping, Short ribs, Rhizomelia, Malar flattening, Short metacarpal, Me... ORPHA:50945
Hallermann-Streiff Syndrome
Scoliosis, Platybasia, Selective tooth agenesis, Thin ribs, Abnormality of the hand, Parietal bos... OMIM:234100
Cerebellar-Facial-Dental Syndrome
Single transverse palmar crease, Hydronephrosis, Scoliosis, Short neck, Ureteropelvic junction ob... ORPHA:444072
Cousin Syndrome
Macrocephaly, Long clavicles, Rhizomelia, Cleft palate, Fibular aplasia, Microglossia, Joint cont... OMIM:260660
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Scoliosis, Short femur, Bilateral cleft lip, Bilateral cleft palate, Cleft upp... OMIM:601357
Short distal phalanx of finger, Scoliosis, Radial metaphyseal irregularity, Irregular epiphyses, ... OMIM:177170
Kabuki Syndrome
Scoliosis, Hip dislocation, Ureteropelvic junction obstruction, Widely spaced teeth, Cleft palate... ORPHA:2322
Hyperparathyroidism, Transient Neonatal
Metaphyseal spurs, Brachycephaly, Enlarged kidney, Short ribs, Unilateral renal agenesis, Thin ri... OMIM:618188
Abnormal iliac wing morphology, Craniofacial hyperostosis, Horizontal ribs, Enlarged thorax, Shor... ORPHA:3003
Van Maldergem Syndrome 1
Scoliosis, Cutaneous finger syndactyly, Camptodactyly, Irregular dentition, Malar flattening, Wid... OMIM:601390
Shprintzen-Goldberg Craniosynostosis Syndrome
Scoliosis, Brachyturricephaly, Thin ribs, Narrow palate, Dolichocephaly, Microcephaly, Supernumer... OMIM:182212
Schwartz-Jampel Syndrome
Scoliosis, Hip dysplasia, Cachexia, Cleft palate, Micromelia, Shoulder flexion contracture, Narro... ORPHA:800
Atelosteogenesis, Type Iii
Scoliosis, Rhizomelia, Cleft palate, Knee dislocation, Cervical segmentation defect, Radial bowin... OMIM:108721
Lower Limb Malformation-Hypospadias Syndrome
Short neck, Abnormality of the ureter, Sacral dimple, Abnormality of tibia morphology, Lower limb... ORPHA:2487
Acrorenal-Mandibular Syndrome
Polycystic kidney dysplasia, Hip dislocation, Thin ribs, Toe syndactyly, Narrow palate, Dolichoce... OMIM:200980
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, High, narrow palate, Brachydactyly OMIM:619692
Cerebellofaciodental Syndrome
Scoliosis, Short neck, Taurodontia, Shortening of all distal phalanges of the fingers, Slender lo... OMIM:616202
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Short tibia, Syndactyly, Abnormality of the hand, Fibular aplasia, Hand oligod... OMIM:246570
Dyggve-Melchior-Clausen Disease
Horizontal inferior border of scapula, Rhizomelia, Atlantoaxial instability, Iliac crest serratio... ORPHA:239
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Platybasia, Metaphyseal cupping, Rhizomelia, Bowed humerus, Metaphyseal irregularity, Short 5th m... OMIM:618019
Robinow Syndrome, Autosomal Dominant 3
Macrocephaly, Scoliosis, Agenesis of permanent teeth, Cleft palate, Broad thumb, Bifid tongue, Sh... OMIM:616894
Distal 22Q11.2 Microduplication Syndrome
Macroglossia, Macrocephaly, Camptodactyly of toe, Camptodactyly of finger, Biparietal narrowing, ... ORPHA:261337
Endove Syndrome, Limb-Brain Type
Recurrent urinary tract infections, Hydronephrosis, Aplasia of the 3rd finger, Triangular tibia, ... OMIM:619218
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Long clavicles, Short tibia, Abnormality of the costochondral junction, Undulate ribs,... ORPHA:96334
Sclerosteosis 1
Deviation of finger, 2-3 finger syndactyly, Tooth malposition, Malar flattening, Facial palsy sec... OMIM:269500
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal chondrodysplasia, Short distal phalanx of finger, Scoliosis, Irregular acetabular roo... OMIM:156500
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Thoracic hypoplasia, Micropenis, Short lingual frenulum, Trident pelvis, Widely sp... OMIM:619479
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Pes planus, Club-shaped proximal femur, Scoliosis, Hypoplasia of the odontoid process, Anterior r... OMIM:184250
Otopalatodigital Syndrome, Type Ii
Spondylolysis, Short thumb, Short metatarsal, Rocker bottom foot, Cleft palate, Toe syndactyly, B... OMIM:304120
Ulbright-Hodes Syndrome
Polycystic kidney dysplasia, Thin ribs, Narrow mouth, Fibular aplasia, Abnormal penis morphology,... ORPHA:3404
Macrocephaly/Autism Syndrome
Biparietal narrowing, High palate, Penile freckling, Midface retrusion, Long philtrum, Postnatal ... OMIM:605309
Brachydactyly, Type B1
Camptodactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Vertebral fusion, Micropen... OMIM:113000
Acrofacial Dysostosis 1, Nager Type
Scoliosis, Hip dislocation, Cleft palate, Toe syndactyly, Short toe, Microcephaly, Hypoplasia of ... OMIM:154400
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Lumbar hyperlordosis, Hip dysplasia, Abnormality of the knee, Abnormality of the vertebral column... ORPHA:99642
Eiken Syndrome
Oligodontia, Flattened epiphysis, Dolichocephaly, Thick lower lip vermilion, Broad metatarsal, Er... OMIM:600002
Hemifacial Atrophy, Progressive
Short mandibular rami, Kyphosis, Tongue atrophy, Dental malocclusion, Delayed eruption of teeth OMIM:141300
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Irregular acetabular roof, Flared iliac wing, Halberd-shaped pelvis, Cone-shaped epiph... OMIM:184252
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Short neck, Abnormality of the ureter, Abnormal hip bone morphology, Malar prom... ORPHA:2522
Metaphyseal Dysplasia, Braun-Tinschert Type
Scoliosis, Broad long bones, Broad femoral head, Broad radial metaphysis, Sclerosis of middle fin... ORPHA:85188
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Delayed ossification of carpal bones, Short metacarpal, Broad femoral neck,... OMIM:607078
Kury-Isidor Syndrome
Hydronephrosis, High palate, Scoliosis, Hip dysplasia, Brachycephaly, Proximal placement of thumb... OMIM:619762
Auriculocondylar Syndrome 1
Macrocephaly, Cleft palate, Dental crowding, Narrow mouth, Mandibular condyle aplasia, Anterior o... OMIM:602483
Congenital Myopathy 17
Hydronephrosis, Pectus excavatum, High palate, Overlapping toe, Hand clenching, Ureteropelvic jun... OMIM:618975
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Mild microcephaly, Camptodactyly, Abnormality of the kidney, ... ORPHA:363444
Apert Syndrome
Bifid uvula, Brachyturricephaly, Cleft palate, Broad thumb, Narrow palate, Preaxial hand polydact... OMIM:101200
Methylcobalamin Deficiency Type Cble
Hemolytic-uremic syndrome, Osteoporosis, Syndactyly, Macrocytic anemia, Increased mean corpuscula... ORPHA:2169
Joubert Syndrome With Hepatic Defect
Macrocephaly, Biparietal narrowing, Scoliosis, Renal insufficiency, Nephropathy, Postaxial hand p... ORPHA:1454
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Ovoid vertebral bodies, Avascular necrosis of the capital femoral epiphysis... OMIM:132400
Focal Dermal Hypoplasia
Camptodactyly of finger, Scoliosis, Tooth agenesis, Horseshoe kidney, Toe syndactyly, Hypoplastic... ORPHA:2092
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Oliver Syndrome
Postaxial foot polydactyly, Camptodactyly of finger, Scoliosis, High palate, Knee flexion contrac... ORPHA:2920
Turnpenny-Fry Syndrome
Macrocephaly, Pes cavus, Widely spaced teeth, Thoracic kyphoscoliosis, Long fingers, Narrow mouth... OMIM:618371
Multiple Sulfatase Deficiency
Broad thumb, Hypoplastic vertebral bodies, Broad hallux, Mucopolysacchariduria OMIM:272200
Hajdu-Cheney Syndrome
Macrocephaly, Short distal phalanx of finger, Scoliosis, Platybasia, Partial absence of toe, Mult... ORPHA:955
Van Maldergem Syndrome 2
Scoliosis, Cutaneous finger syndactyly, Micropenis, Irregular dentition, Malar flattening, Ulnar ... OMIM:615546
Axial Mesodermal Dysplasia Spectrum
Hydronephrosis, Scoliosis, Abnormality of the knee, Renal cyst, Missing ribs, Abnormality of the ... ORPHA:1834
Au-Kline Syndrome
Oligodontia, Hip dysplasia, Bifid uvula, Cleft palate, Dolichocephaly, Bifid tongue, Sagittal cra... OMIM:616580
Braddock Syndrome
Pectus excavatum, Scoliosis, Short neck, Missing ribs, Unilateral renal agenesis, Failure to thri... ORPHA:52047
Mucolipidosis Type Iv
Biparietal narrowing, Genu recurvatum, Microdontia, Everted lower lip vermilion, Palmoplantar ker... ORPHA:578
Auriculocondylar Syndrome
Macrocephaly, Abnormality of the crus of the helix, Bifid uvula, Difficulty in tongue movements, ... ORPHA:137888
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hip dislocation, Proximal placement of thumb, Horseshoe kidney, Short metatarsal, Undulate ribs, ... OMIM:609945
Microphthalmia, Lenz Type
Hydronephrosis, Camptodactyly of finger, Scoliosis, Abnormality of the dentition, Long thorax, Hy... ORPHA:568
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Bicoronal synostosis, Oligodontia, Scoliosis, Misalignment of incisors, Enamel hypoplasia, Cleft ... OMIM:619184
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Polycystic kidney dysplasia, Hip dislocation, Short thumb, Long clavicles, Micromelia, Shoulder f... OMIM:210710
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Diastema, Short neck, Malar flattening, Dental malocclusion, Micrognathia, Brachydactyly ORPHA:436245
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal metacarpophalangeal joint morphology, Hip dysplasia, Flattened femoral head, Abnormal ac... ORPHA:166011
Thoracic Dysostosis, Isolated
Short ribs, Pectus excavatum, Bell-shaped thorax OMIM:187750
Intermediate Osteopetrosis
Osteosclerosis of the base of the skull, Abnormality of the dentition, Sandwich appearance of ver... ORPHA:210110
Macrocephaly, Scoliosis, Abnormal metaphysis morphology, Genu varum, Abnormal form of the vertebr... ORPHA:429
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Th... OMIM:617021
Yunis-Varon Syndrome
Hip dislocation, Short upper lip, Rocker bottom foot, Gingival recession, Aplasia/Hypoplasia of t... ORPHA:3472
Brachyolmia Type 1, Toledo Type
Irregular vertebral endplates, Short neck, Short femoral neck, Back pain, Squared-off platyspondy... OMIM:271630
Eiken Syndrome
Epiphyseal dysplasia, Abnormal fingertip morphology, Delayed epiphyseal ossification, Limited elb... ORPHA:79106
Odontoid Hypoplasia
Hypoplasia of the odontoid process, Dystopic os odontoideum, Cervical instability, Atlantoaxial i... OMIM:613628
Takenouchi-Kosaki Syndrome
Hydronephrosis, Camptodactyly, Scoliosis, Progressive microcephaly, Proximal placement of thumb, ... OMIM:616737
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Micrognathia, ... OMIM:300946
Shwachman-Diamond Syndrome
Hypopituitarism, Metaphyseal chondrodysplasia, Abnormal joint morphology, Hepatomegaly, Macrocyti... ORPHA:811
Microcephaly, Short Stature, And Limb Abnormalities
Patellar aplasia, Dislocated radial head, Short metacarpal, Patellar hypoplasia, Mesomelia, Clino... OMIM:617604
Kniest Dysplasia
Lumbar kyphoscoliosis, Hip dislocation, Rhizomelia, Cleft palate, Hypoplastic pelvis, Coxa vara, ... OMIM:156550
Baller-Gerold Syndrome
Oligodactyly, Bicoronal synostosis, Abnormality of the kidney, Scoliosis, Bifid uvula, Aplasia of... OMIM:218600
Intellectual Developmental Disorder, Autosomal Dominant 53
Hydronephrosis, Macrocephaly, Micropenis, Brachycephaly, Posterior plagiocephaly, Short femur, Mi... OMIM:617798
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, Slender build, Hip dysplasia, Thin long bone diaphyses, Irregular sclero... ORPHA:3455
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hip dislocation, Flattened epiphysis, Microcephaly, Cone-shaped epiphyses of the phalanges of the... OMIM:226980
Heart-Hand Syndrome Type 2
Abnormality of the humerus, Hand polydactyly, Abnormal palate morphology, Abnormality of the dent... ORPHA:1350
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip dislocation, Advanced ossification of carpal bones, Cleft palate, Delayed proximal femoral ep... OMIM:271640
Fanconi Anemia, Complementation Group S
Proximal placement of thumb, Failure to thrive, Macrodontia, Narrow palate, Dental malocclusion, ... OMIM:617883
Mucopolysaccharidosis, Type Iva
Grayish enamel, Scoliosis, Large elbow, Cervical subluxation, Widely spaced teeth, Carious teeth,... OMIM:253000
Diamond-Blackfan Anemia 1
Short thumb, Hypoplastic sacral vertebrae, Cleft palate, Microcephaly, Parietal foramina, 11 pair... OMIM:105650
Urban-Rogers-Meyer Syndrome
Abnormality of the philtrum, Camptodactyly of finger, Abnormal diaphysis morphology, Flexion cont... ORPHA:3409
Ritscher-Schinzel Syndrome 1
Hydronephrosis, Brachycephaly, Missing ribs, Syndactyly, Cleft palate, Prominent occiput, Hemiver... OMIM:220210
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Ectrodactyly, Bifid femur, Hand monodactyly, Aplasia/Hypoplasia ... ORPHA:1986
3C Syndrome
Hydronephrosis, Macrocephaly, Hand polydactyly, Scoliosis, Short neck, Missing ribs, Finger synda... ORPHA:7
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Anterior atlanto-occipital dislocation, Cervical vertebral facet hy... OMIM:118005
Osteogenesis Imperfecta
Macrocephaly, Scoliosis, Abnormal long bone morphology, Rhizomelia, Thin ribs, Micromelia, Diaphy... ORPHA:666
Baller-Gerold Syndrome
Hydronephrosis, High palate, Scoliosis, Vesicoureteral reflux, Brachycephaly, Bowing of the long ... ORPHA:1225
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Autosomal Recessive Omodysplasia
Craniosynostosis, Abnormal metaphysis morphology, Rhizomelia, Mesomelia, Abnormal morphology of t... ORPHA:93329
Catel-Manzke Syndrome
Scoliosis, Bifid uvula, Cleft palate, Narrow mouth, Short toe, Single transverse palmar crease, C... OMIM:616145
Noonan Syndrome 4
Hydronephrosis, Macrocephaly, Scoliosis, Pectus excavatum, Thick vermilion border, Short neck, De... OMIM:610733
Desbuquois Dysplasia 1
Scoliosis, Partial duplication of the distal phalanx of the hallux, Flattened epiphysis, Short me... OMIM:251450
Myopathy, Myofibrillar, 8
Pectus excavatum, Scoliosis, High palate, Joint contracture of the 5th finger, Pes cavus, Scapula... OMIM:617258
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Biparietal narrowing, Pectus excavatum, Long fibula, Abnormal metaphysis morphology ORPHA:935
Acro-Renal-Mandibular Syndrome
Scoliosis, Hip dislocation, Thin ribs, Abnormal clavicle morphology, Sprengel anomaly, Hypoplasia... ORPHA:958
Thoracic hypoplasia, Enlarged kidney, Cystic renal dysplasia, Horseshoe kidney, Missing ribs, Abs... OMIM:608022
Kniest Dysplasia
Macrocephaly, Vertebral wedging, Flexion contracture of finger, Cleft palate, Enlarged epiphyses,... ORPHA:485
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Micropenis, Short ribs, Broad ribs, Abnormal rib morphology, Postaxial hand polydactyly, Microcep... ORPHA:2519
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Short lower limbs, Genu varum, Flattened epiphysis, Pear-shaped vertebrae, M... ORPHA:93356
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication OMIM:188740
Congenital Megacalycosis
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Enlarged kidney, R... ORPHA:93109
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Short thumb, Horseshoe kidney, Patellar dislocation, Cleft palate, Carpal synost... OMIM:274000
Weismann-Netter Syndrome
Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Sc... ORPHA:3344
Trisomy 13
Hydronephrosis, Calvarial skull defect, Scoliosis, Abnormality of the dentition, Malar flattening... ORPHA:3378
Zaki Syndrome
Hydronephrosis, High palate, Scoliosis, Median pseudocleft lip, Ectrodactyly, Sacral dimple, Long... OMIM:619648
Cat-Eye Syndrome
Hydronephrosis, Hip dysplasia, Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal locali... ORPHA:195
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Hip dislocation, Talipes calcaneovalgus, Long clavicles, Rocker bottom foot, Cleft pal... OMIM:265000
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Peg-like central prominence of distal tibial metaphyses, Flattened epiphysis, Thin ribs, Flared i... OMIM:300232
Czeizel-Losonci Syndrome
Single transverse palmar crease, Hydronephrosis, High palate, 2-3 finger syndactyly, 3-4 finger s... ORPHA:2437
Cranioectodermal Dysplasia 2
Macrocephaly, Cloverleaf skull, Polydactyly, Rhizomelia, Widely spaced teeth, Cleft palate, Dolic... OMIM:613610
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... OMIM:246700
Trisomy 20P
Camptodactyly of finger, Abnormality of the kidney, Scoliosis, Multiple renal cysts, Dolichocepha... ORPHA:261318
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Genu varum, Metaphyseal cupping, Flattened epiphysis, Rhizomelia, Pear-s... OMIM:602111
Cooper-Jabs Syndrome
Camptodactyly of finger, Scoliosis, Brachycephaly, Proximal placement of thumb, Malar flattening,... ORPHA:1488
Progeria-Short Stature-Pigmented Nevi Syndrome
Short distal phalanx of finger, Small for gestational age, Micropenis, Selective tooth agenesis, ... ORPHA:2959
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Abnormal erythrocyte morphology, Hyperbilirubinemia, Increased mean corpusc... ORPHA:98870
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia, Hypoplasia of penis, Narrow mouth, Thin verm... ORPHA:1046
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Hip dislocation, Irregular vertebral endplates, Short neck, Delayed ossification of ca... OMIM:618395
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Abnormal distal phalanx morphology of finger, Macrocephaly, Abnormality of the humerus, Aplasia/H... ORPHA:1275
Squalene Synthase Deficiency
Decreased LDL cholesterol concentration, Knee flexion contracture, Slender long bone, Elevated ci... OMIM:618156
Kabuki Syndrome 2
High palate, Hip dislocation, Horseshoe kidney, Cleft palate, Dental malocclusion, Short 5th fing... OMIM:300867
Autosomal Recessive Spondylocostal Dysostosis
Macrocephaly, Camptodactyly of finger, Scoliosis, Abnormal form of the vertebral bodies, Short ne... ORPHA:2311
Florid Cemento-Osseous Dysplasia
Periapical bone loss, Abnormal cementum morphology, Atrophy of alveolar ridges, Abnormality of pr... ORPHA:83451
Anemia, Hypochromic Microcytic, With Iron Overload 2
Elevated transferrin saturation, Hypogonadism, Anemia, Decreased mean corpuscular volume, Hepatom... OMIM:615234
Faciocardiomelic Dysplasia, Lethal
Single transverse palmar crease, Small for gestational age, Retrognathia, Short thumb, Hypoplasia... OMIM:227270
Suleiman-El-Hattab Syndrome
Hydronephrosis, High palate, Polydactyly, Failure to thrive, Microretrognathia, Downturned corner... OMIM:618950
Amelogenesis Imperfecta
Abnormal jaw morphology, Multiple unerupted teeth, Fragile teeth, Abnormality of permanent molar ... ORPHA:88661
Omodysplasia 1
Short humerus, Anterolateral radial head dislocation, Limited elbow extension, Short neck, Malar ... OMIM:258315
Ollier Disease
Abnormal metaphysis morphology, Multiple enchondromatosis, Micromelia, Platyspondyly, Abnormal ca... ORPHA:296
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Lumbar hyperlordosis, Genu varum, Patellar hypoplasia, Broad femoral neck, Short femoral neck, Ir... OMIM:609325
Short distal phalanx of finger, Hypoplastic ilia, Proteinuria, Chronic kidney disease, Limb under... ORPHA:1855
Autosomal Recessive Robinow Syndrome
Macrocephaly, Short distal phalanx of finger, Camptodactyly of finger, Scoliosis, Ankyloglossia, ... ORPHA:1507
Mucopolysaccharidosis Type 4
Mucopolysacchariduria, Macrocephaly, Scoliosis, Grayish enamel, Carious teeth, Short neck, Coxa v... ORPHA:582
Trisomy 17P