Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Ctsk MGI:107823

Gene Summary

Name:

cathepsin K

Synonyms:

Cat K, catK

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	P Value
increased bone mineral density	Ctsk^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.53×10^-09
abnormal uterus morphology	Ctsk^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
short tibia	Ctsk^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.11×10^-12
decreased prepulse inhibition	Ctsk^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	6.64×10^-10

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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 Dorso Ventral

10 Images

View images

Gross Pathology and Tissue Collection

Images

9 Images

View images

Immunophenotyping

Panel B FCS file(s)

6 Images

View images

Eye Morphology

Images Ophthalmoscopy

5 Images

View images

X-ray

XRay Images Skull Lateral Orientation

10 Images

View images

Immunophenotyping

Panel A FCS file(s)

6 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

Histopathology

Images

10 Images

View images

Eye Morphology

Images Slit Lamp

1 Images

View images

Human diseases caused by Ctsk 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 Ctsk (2 diseases)
Human diseases predicted to be associated with Ctsk (1391 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Pycnodysostosis		Disproportionate short-limb short stature, Hypoplastic iliac wing, Hyperlordosis, Kyphosis, Persi...	ORPHA:763
Pycnodysostosis		Narrow palate, Absent frontal sinuses, Increased bone mineral density, Narrow iliac wing, Osteoly...	OMIM:265800

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

Disease	Matching phenotypes	Source
Mazabraud Syndrome	Fibrous dysplasia of the bones, Bone pain, Recurrent fractures	ORPHA:57782
Superior Transverse Scapular Ligament, Calcification Of, Familial	Ectopic ossification in ligament tissue	OMIM:601708
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis, Dense metaphyseal bands, Erlenmeyer flask deformity of the femurs, Cortical sclero...	OMIM:611497
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Thickened cortex of long bones, Mandibular osteomyelitis, R...	ORPHA:53697
Osteopetrosis, Autosomal Dominant 1	Osteopetrosis, Calvarial osteosclerosis, Abnormal pelvic girdle bone morphology, Thickened cortex...	OMIM:607634
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste...	ORPHA:1879
Osteochondrosis Of The Metatarsal Bone	Osteochondrosis, Avascular necrosis, Flattened metatarsal heads, Abnormality of the third metatar...	ORPHA:564003
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Osteopetrosis, Autosomal Dominant 2	Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Abnormal pel...	OMIM:166600
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology, Diaphyseal u...	ORPHA:3416
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Buschke-Ollendorff Syndrome	Joint stiffness, Flexion contracture, Osteopoikilosis	OMIM:166700
Ghosal Hematodiaphyseal Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal c...	ORPHA:1802
Ribbing Disease	Diaphyseal sclerosis	OMIM:601477
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Sclerosteosis	Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hyperostosis, Increas...	ORPHA:3152
Eiken Syndrome	Metaphyseal irregularity, Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossi...	ORPHA:79106
Gnathodiaphyseal Dysplasia	Osteopenia, Diaphyseal cortical sclerosis, Bowing of the long bones, Osteomyelitis, Increased sus...	OMIM:166260
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial...	ORPHA:2790
Familial Expansile Osteolysis	Bone pain, Bowing of the long bones, Osteolysis, Pathologic fracture, Thin bony cortex	OMIM:174810
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis, Dense metaphyseal bands, Metaphyseal dysplasia	OMIM:615198
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis, Anemia, Increased bone mineral density, Reticulocytosis, Thrombocytopenia, Splenom...	OMIM:611490
Osteopetrosis, Autosomal Recessive 9	Osteopetrosis, Anemia, Increased bone mineral density, Cortical sclerosis, Pathologic fracture	OMIM:620366
Hereditary Sensory And Autonomic Neuropathy Type 2	Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Ab...	ORPHA:970
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Congenital bilateral hip dislocation, Congenital knee dislocation, Scoliosis, Joint s...	OMIM:130060
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Abnormal cortical bone morphology, Upper limb undergrowth, Limitation of joint mobility, Toe clin...	ORPHA:166277
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim...	OMIM:600785
Metaphyseal Chondrodysplasia, Spahr Type	Abnormal metaphysis morphology, Disproportionate short stature, Reduced bone mineral density, Sco...	ORPHA:2501
Osteopetrosis, Autosomal Recessive 2	Cranial hyperostosis, Osteopetrosis, Genu valgum, Anemia, Pancytopenia, Diaphyseal sclerosis, Rec...	OMIM:259710
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay	Osteopenia, Recurrent fractures	OMIM:619884
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Kyphoscoliosis, Dislocated radial head, Short metacarpal, Broad femoral neck, Bifid uvula, Modera...	OMIM:612350
Osteopathia Striata-Cranial Sclerosis Syndrome	Abnormal metaphysis morphology, Retrognathia, High, narrow palate, Osteopetrosis, Large fontanell...	ORPHA:2780
Craniometaphyseal Dysplasia	Abnormal metaphysis morphology, Osteopetrosis, Craniofacial hyperostosis	ORPHA:1522
Craniosynostosis 3	Right unicoronal synostosis, Bicoronal synostosis, Hallux valgus, Single transverse palmar crease...	OMIM:615314
Pyle Disease	Limited elbow extension, Reduced bone mineral density, Genu valgum, Cubitus valgus, Delayed erupt...	OMIM:265900
Osteogenesis Imperfecta, Type V	Osteopenia, Anterior radial head dislocation, Platyspondyly, Vertebral wedging, Hyperextensibilit...	OMIM:610967
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly, Abnormal limb bo...	ORPHA:2204
Monosomy 5P	Finger syndactyly, Abnormality of bone mineral density, Scoliosis, High palate, Intrauterine grow...	ORPHA:281
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d...	OMIM:166740
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Anemia, Pancytopenia, Increased bone min...	OMIM:259700
Mueller-Weiss Syndrome	Fragmented, irregular epiphyses, Avascular necrosis, Knee osteoarthritis, Arthritis, Abnormality ...	ORPHA:566943
Endosteal Hyperostosis, Autosomal Dominant	Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Hypero...	OMIM:144750
Florid Cemento-Osseous Dysplasia	Supernumerary tooth, Avascular necrosis, Atrophy of alveolar ridges, Oral ulcer, Abnormality of p...	ORPHA:83451
Osteogenesis Imperfecta, Type Xxii	Reduced bone mineral density, Slender long bone, Wormian bones, Bowing of the long bones, Multipl...	OMIM:619795
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Intermediate Osteopetrosis	Anemia, Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Recurrent f...	ORPHA:210110
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density	OMIM:241520
Osteogenesis Imperfecta, Type Iii	Neonatal short-limb short stature, Disproportionate short-limb short stature, Slender long bone, ...	OMIM:259420
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Osteopetrosis, Anemia, Splenomegaly	OMIM:615085
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol...	ORPHA:93405
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Scoliosis, Hypermobility of i...	OMIM:613849
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Vertebral wedging, Scoliosis, Multiple prenatal fractures, Biconcave vert...	OMIM:301014
Isolated Osteopoikilosis	Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar...	ORPHA:166119
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Femoral bowing, Recurrent fractures, Increased susceptibility to fractures	OMIM:615066
Pycnodysostosis	Disproportionate short-limb short stature, Hypoplastic iliac wing, Hyperlordosis, Kyphosis, Persi...	ORPHA:763
Interstitial Lung Disease 2	Increased circulating antibody level, Clubbing of fingers, Elevated bronchoalveolar lavage fluid ...	OMIM:178500
Osteogenesis Imperfecta, Type Iv	Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Otosclero...	OMIM:166220
Angel-Shaped Phalango-Epiphyseal Dysplasia	Short 1st metacarpal, Hip osteoarthritis, Delayed eruption of teeth, Short middle phalanx of the ...	ORPHA:63442
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Bone pain, Recurrent fractures, Increased spinal bone density	ORPHA:329475
Osteogenesis Imperfecta, Type Ix	Disproportionate short-limb short stature, Scoliosis, Wormian bones, Kyphosis, Decreased calvaria...	OMIM:259440
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Reduced bone mineral density, Genu valgum, Broad femoral head, Shallow acetabular fos...	OMIM:620639
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Hypoplastic iliac wing, Mandibular prognathia, Scoliosis, Abnormality of the dentition, Kyphosis,...	ORPHA:1858
Solitary Bone Cyst	Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ...	ORPHA:83468
Caffey Disease	Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Cortical irregularity, Perio...	OMIM:114000
Variant Abeta2M Amyloidosis	Cutaneous amyloidosis, Amyloidosis of peripheral nerves, Arthralgia of the hip, Multiple bony cys...	ORPHA:314652
Larsen-Like Syndrome	Kyphoscoliosis, Clinodactyly of the 5th finger, Joint dislocation, Wide anterior fontanel, Radial...	OMIM:608545
Cranio-Osteoarthropathy	Abnormal tibia morphology, Abnormal cortical bone morphology, Arthritis, Joint stiffness, Deviati...	ORPHA:1525
Osteopenia And Sparse Hair	Osteopenia, Joint hypermobility	OMIM:259690
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Muenke Syndrome	Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Thimble-shaped mi...	OMIM:602849
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Short Stature, Dauber-Argente Type	Osteopenia, Postnatal growth retardation, Reduced bone mineral density, Delayed eruption of teeth...	OMIM:619489
Albers-Schönberg Osteopetrosis	Abnormal metaphysis morphology, Genu valgum, Anemia, Abnormal metacarpal morphology, Joint disloc...	ORPHA:53
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Extramedullary hematopoiesis	OMIM:612840
Craniometadiaphyseal Dysplasia	Osteopenia, Genu valgum, Cubitus valgus, Flared metaphysis, Dental crowding, Mandibular prognathi...	OMIM:269300
Bruck Syndrome 1	Ankle flexion contracture, Platyspondyly, Pterygium, Vertebral wedging, Scoliosis, Elbow flexion ...	OMIM:259450
Alpha-Mannosidosis	Narrow palate, Widely spaced teeth, Craniofacial hyperostosis, Avascular necrosis, Arthritis, Gin...	ORPHA:61
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Osteopetrosis, Clinodactyly of the 5th finger, Increased bone mineral density, Decreased body wei...	OMIM:617306
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh...	OMIM:118651
Epiphyseal Dysplasia, Multiple, 1	Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific...	OMIM:132400
Osteogenesis Imperfecta, Type Xi	Osteopenia, Kyphoscoliosis, Vertebral compression fracture, Vertebral wedging, Scoliosis, Wormian...	OMIM:610968
Dysosteosclerosis	Broad femoral neck, Hypoplastic vertebral bodies, Delayed closure of the anterior fontanelle, Abs...	OMIM:224300
Caffey Disease	Increased circulating antibody level, Calvarial hyperostosis, Periosteal thickening of long tubul...	ORPHA:1310
Odontochondrodysplasia 1	Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Delayed ossificati...	OMIM:184260
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Kyphosis, Delayed skeletal maturation, Bifid uvula, Wide mouth, Symph...	ORPHA:2658
Ghosal Hematodiaphyseal Dysplasia	Increased bone mineral density, Refractory anemia, Myelofibrosis, Thrombocytopenia, Leukopenia, H...	OMIM:231095
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic...	ORPHA:3344
Metatropic Dysplasia	Abnormal metaphysis morphology, Abnormal cortical bone morphology, Clinodactyly of the 5th finger...	ORPHA:2635
Trichorhinophalangeal Syndrome, Type I	Hyperlordosis, Short metacarpal, Microdontia, Cone-shaped epiphyses of the proximal phalanges of ...	OMIM:190350
Hypophosphatasia, Adult	Rickets, Pathologic fracture, Osteomalacia, Recurrent fractures, Increased susceptibility to frac...	OMIM:146300
Osteosarcoma	Abnormal metaphysis morphology, Abnormal femoral metaphysis morphology, Pathologic fracture, Abno...	ORPHA:668
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Osteopenia, Reticular pattern on pulmonary HRCT, Clubbing of fingers, Bone marrow hypocellularity...	OMIM:614742
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Limitation of...	ORPHA:1486
Osteogenesis Imperfecta, Type Viii	Disproportionate short-limb short stature, Femoral bowing, Tibial bowing, Decreased skull ossific...	OMIM:610915
Idiopathic Pulmonary Fibrosis	Abnormal pulmonary interstitial morphology, Reticular pattern on pulmonary HRCT, Clubbing of fing...	ORPHA:2032
Hypergonadotropic Hypogonadism-Cataract Syndrome	Delayed skeletal maturation, Reduced bone mineral density, Recurrent fractures, Osteoporosis	ORPHA:2410
Melorheostosis	Increased bone mineral density, Arthritis, Hyperostosis, Bone pain, Ectopic ossification in muscl...	ORPHA:2485
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Osteopenia, Postnatal growth retardation, Single transverse palmar crease, Mandibular prognathia,...	ORPHA:2324
Camptodactyly Syndrome, Guadalajara Type 1	Cubitus valgus, Abnormal form of the vertebral bodies, Hallux valgus, Mandibular prognathia, Open...	ORPHA:1327
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra...	OMIM:112910
Geroderma Osteodysplasticum	Kyphoscoliosis, Femoral bowing, Tibial bowing, Biconcave vertebral bodies, Severe short stature, ...	OMIM:231070
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, High palate, Long fingers, Dental malocclusion, Tapered finger, Mild short...	OMIM:618292
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Osteopenia, Bone cyst, Pathologic fracture	OMIM:618193
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Flynn-Aird Syndrome	Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density with cystic...	OMIM:136300
Pseudoachondroplasia	Disproportionate short-limb short stature, Abnormal form of the vertebral bodies, Short long bone...	ORPHA:750
Seckel Syndrome 1	Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Dental cr...	OMIM:210600
Osteogenesis Imperfecta, Type Xiii	Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Dislocated radial head...	OMIM:614856
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Platyspondyly, Vertebral compression fracture, Small for gestational age,...	OMIM:616229
Diastrophic Dysplasia	Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy...	ORPHA:628
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Kyphoscoliosis, Short long bone, Hyperlordosis, Knee dislocation, Tooth agenesis, Accelerated ske...	OMIM:618363
Rubinstein-Taybi Syndrome 2	Narrow palate, Retrognathia, Short 5th toe, Short first metatarsal, Increased overbite, Prominent...	OMIM:613684
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl...	ORPHA:2098
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Abnorm...	ORPHA:3409
Grant Syndrome	Abnormal cortical bone morphology, Decreased skull ossification, Bowing of the long bones, Abnorm...	ORPHA:2097
Hip Dysplasia, Beukes Type	Abnormal bone ossification, Abnormality of bone mineral density, Hip dysplasia, Coxa vara, Broad ...	ORPHA:2114
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper...	ORPHA:75508
Osteoporosis	Osteoporosis	OMIM:166710
Gorham-Stout Disease	Osteopenia, Abnormal bone ossification, Abnormal femur morphology, Osteolysis involving bones of ...	ORPHA:73
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Short tubular bones of the hand, Abnormal diaphysis morphology, Obtuse angle of mandi...	ORPHA:85184
Pycnodysostosis	Narrow palate, Absent frontal sinuses, Increased bone mineral density, Narrow iliac wing, Osteoly...	OMIM:265800
Fibular Hemimelia	Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog...	ORPHA:93323
Cleidocranial Dysplasia	Glossoptosis, Decreased skull ossification, Sinusitis, Abnormal epiphysis morphology, Abnormal me...	ORPHA:1452
Mcdonough Syndrome	Bilateral single transverse palmar creases, Abnormal palate morphology, Short philtrum, Cachexia,...	ORPHA:2471
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Honeycomb lung, Pulmonary fibrosis	OMIM:616371
Otopalatodigital Syndrome Type 1	Abnormality of the tarsal bones, Proximal placement of thumb, Sandal gap, Abnormal metacarpal mor...	ORPHA:90650
Brachydactyly, Type B1	Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Wide anter...	OMIM:113000
Acrootoocular Syndrome	Kyphoscoliosis, Sandal gap, Short metacarpal, Prominent calcaneus, Delayed skeletal maturation, P...	ORPHA:2980
Maxillonasal Dysplasia, Binder Type	Short distal phalanx of finger, Dental malocclusion, Patchy distortion of vertebrae, Vertebral cl...	OMIM:155050
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormality of cranial sutures, Abnormal bone ossification, Flat acetabular roof, Wide proximal f...	ORPHA:163649
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Fibular bowing, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowin...	OMIM:600081
Vitamin D-Dependent Rickets, Type 2A	Femoral bowing, Tibial bowing, Metaphyseal irregularity, Rickets, Fibular bowing, Carious teeth, ...	OMIM:277440
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Short philtrum, Delayed eruption of teeth, Osteoporosis, Short stature, Dentinogenesis imperfecta...	ORPHA:71267
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3	Usual interstitial pneumonia, Pulmonary fibrosis	OMIM:616373
Rhizomelic Syndrome, Urbach Type	Rhizomelia, Triphalangeal thumb, Abnormal form of the vertebral bodies, Abnormality of the elbow,...	ORPHA:3098
Acrodysostosis 1 With Or Without Hormone Resistance	Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Di...	OMIM:101800
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Osteopetrosis, Anemia, Decreased circulating IgG level, Abnormal trabecular bone ...	OMIM:612301
Myeloma, Multiple	Amyloidosis, Paraproteinemia	OMIM:254500
Trichothiodystrophy 9, Nonphotosensitive	Joint hypermobility, Brachydactyly, High, narrow palate, Dental malocclusion	OMIM:619692
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Scoliosis, Femoral bowing, Osteoporosis, Carious teeth, Severe short stature, Platysp...	OMIM:126550
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615269
Dysosteosclerosis	Abnormal metaphysis morphology, Craniofacial hyperostosis, Delayed eruption of teeth, Increased b...	ORPHA:1782
Osteoglosphonic Dysplasia	Abnormal bone ossification, Rhizomelia, Abnormal form of the vertebral bodies, Scoliosis, Tooth a...	ORPHA:2645
Hypocalcemic Vitamin D-Dependent Rickets	Femoral bowing, Tibial bowing, Splenomegaly, Genu varum, Rickets, Short stature, Failure to thriv...	ORPHA:289157
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Short stature, Hepatosplenomeg...	OMIM:259730
Weismann-Netter Syndrome	Fibular bowing, Anterior tibial bowing, Scoliosis, Calvarial hyperostosis, Kyphosis, Lateral femo...	OMIM:112350
Paget Disease Of Bone 3	Bone pain, Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,...	OMIM:127300
Bruck Syndrome 2	Osteopenia, Pterygium, Wormian bones, Elbow flexion contracture, Femoral bowing, Short stature, F...	OMIM:609220
Three M Syndrome 2	Small for gestational age, Delayed eruption of teeth, Slender long bone, Hyperlordosis, High pala...	OMIM:612921
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis, Splenomegaly	OMIM:618541
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Fibular bowing, Delayed epiphyseal ossification, Delayed eruption of teeth, Enlargement ...	OMIM:264700
Bruck Syndrome	Pterygium, Scoliosis, Wormian bones, Bowing of the long bones, Osteoporosis, Kyphosis, Joint stif...	ORPHA:2771
Intellectual Developmental Disorder, Autosomal Recessive 39	Short stature, Hallux valgus, Dental malocclusion, Kyphoscoliosis	OMIM:615541
Van Maldergem Syndrome 1	Joint hypermobility, Clinodactyly, Short 4th metacarpal, Scoliosis, Camptodactyly, Short fourth m...	OMIM:601390
Robinow Syndrome, Autosomal Dominant 2	Kyphoscoliosis, Dental crowding, Broad thumb, Mesomelia, Wide mouth, Short distal phalanx of fing...	OMIM:616331
Ck Syndrome	Joint hypermobility, Abnormal cortical bone morphology, Abnormal digit morphology	OMIM:300831
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Wormian bones, Femoral bowing, Biconcave flattened vertebrae, Dentinoge...	OMIM:166200
Dysostosis, Stanescu Type	Hyperlordosis, Kyphosis, Tooth agenesis, Persistent open anterior fontanelle, Massively thickened...	ORPHA:1798
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Abnormal femoral neck/head morphology, Crumpled long bones, Abnormal lower limb bone ...	ORPHA:2788
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis, Accelerated skeletal maturation, Short long bone, Flared elbow metaph...	ORPHA:1423
Cole-Carpenter Syndrome	Abnormal metaphysis morphology, Crumpled long bones, Delayed eruption of teeth, Abnormal form of ...	ORPHA:2050
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Bone pain, Fe...	OMIM:300554
Odontochondrodysplasia	Abnormal metaphysis morphology, Retrognathia, Square pelvis bone, Platyspondyly, Delayed eruption...	ORPHA:166272
Eiken Syndrome	Eruption failure, Delayed ossification of carpal bones, Flat acetabular roof, Broad metatarsal, M...	OMIM:600002
Idiopathic Juvenile Osteoporosis	Bone pain, Recurrent fractures, Osteoporosis	ORPHA:85193
Frontometaphyseal Dysplasia 1	Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co...	OMIM:305620
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Emphysema, Genu valgum, Lung adenocarcinoma, Pulmonary fibrosis	OMIM:618913
Oculodentodigital Dysplasia, Autosomal Recessive	2-4 toe cutaneous syndactyly, Hypoplasia of the primary teeth, Dental crowding, Delayed skeletal ...	OMIM:257850
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Sclerotic vertebral body, Diaphyseal sclerosis, Kyphosis, Metaphyseal widening, In...	OMIM:618476
Momo Syndrome	Large for gestational age, Abnormal bone ossification, Thick lower lip vermilion, Tall stature, D...	ORPHA:2563
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli...	ORPHA:240
Cole-Carpenter Syndrome 2	Osteopenia, Postnatal growth retardation, Lambdoidal craniosynostosis, Narrow iliac wing, Wormian...	OMIM:616294
Paget Disease Of Bone 2, Early-Onset	Bone pain, Osteosclerosis of the ulna, Fractures of the long bones, Femoral bowing, Bowing of the...	OMIM:602080
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Frank-Ter Haar Syndrome	Beaking of vertebral bodies, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Shor...	ORPHA:137834
Desmosterolosis	Retrognathia, Osteopetrosis, Increased bone mineral density, Narrow mouth, Micromelia, Metatarsus...	ORPHA:35107
Marshall-Smith Syndrome	Retrognathia, Reduced bone mineral density, Slender long bone, Gingival overgrowth, Scoliosis, Bo...	ORPHA:561
Juvenile Paget Disease	Cranial hyperostosis, Bowing of the long bones, Osteoporosis, Coarse metaphyseal trabecularizatio...	ORPHA:2801
Cleidocranial Dysplasia 1	Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ...	OMIM:119600
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormal hip bone morphology, Dental crowding, Tibial bowing, Microdontia, Broad thumb, Prominent...	ORPHA:251028
Pseudopseudohypoparathyroidism	Short metatarsal, Delayed eruption of teeth, Short metacarpal, Osteoporosis, Short stature, Ename...	OMIM:612463
Hypophosphatasia	Abnormal metaphysis morphology, Large fontanelles, Anemia, Abnormality of the dentition, Bowing o...	ORPHA:436
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Dental crowding, Joint stiffness, Pathologic fracture, Delayed closure of...	OMIM:614008
Intellectual Disability And Myopathy Syndrome	Limited elbow extension, Scoliosis, Incisor macrodontia, Congenital hip dislocation, Achilles ten...	OMIM:619719
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma...	ORPHA:477781
Osteopetrosis, Autosomal Recessive 5	Cranial hyperostosis, Osteopetrosis, Hip subluxation, Anemia, Hypochromic microcytic anemia, Panc...	OMIM:259720
Odontotrichoungual-Digital-Palmar Syndrome	Short first metatarsal, Single transverse palmar crease, Mandibular prognathia, Short distal phal...	OMIM:601957
Mulibrey Nanism	Thickened cortex of long bones, Absent frontal sinuses, Dental crowding, Single transverse palmar...	OMIM:253250
Hypocalcemic Vitamin D-Resistant Rickets	Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Bone pain, Bone cyst, ...	ORPHA:93160
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Clinodactyly of the 5th finger, Sandal gap, Spina bifida occulta, Anterior open-bite ...	OMIM:617877
Osteogenesis Imperfecta, Type Vi	Beaking of vertebral bodies, Vertebral compression fracture, Coxa vara, Biconcave vertebral bodie...	OMIM:613982
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Osteoglophonic Dysplasia	Eruption failure, Short metacarpal, Broad metatarsal, Broad thumb, Severe short stature, Long phi...	OMIM:166250
Geroderma Osteodysplastica	Beaking of vertebral bodies, Abnormal bone ossification, Platyspondyly, Vertebral compression fra...	ORPHA:2078
Cleidocranial Dysplasia 2	Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Short clavicles, D...	OMIM:620099
Riddle Syndrome	Decreased circulating IgG level, Pulmonary fibrosis	OMIM:611943
Melnick-Needles Syndrome	Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica...	ORPHA:2484
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R...	OMIM:249700
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Van Maldergem Syndrome 2	Joint hypermobility, Clinodactyly, Short 4th metacarpal, Scoliosis, Short fourth metatarsal, Ulna...	OMIM:615546
Rhizomelic Syndrome	Rhizomelia, Wide anterior fontanel, Short stature, Micrognathia, Bifid distal phalanx of the thum...	OMIM:268250
Intellectual Disability, Buenos-Aires Type	Reduced bone mineral density, Clinodactyly of the 5th finger, Mandibular prognathia, Open bite, H...	ORPHA:3079
Multicentric Osteolysis, Nodulosis, And Arthropathy	Kyphoscoliosis, Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contractu...	OMIM:259600
Frank-Ter Haar Syndrome	Kyphoscoliosis, Broad alveolar ridges, Short long bone, Kyphosis, Wide mouth, Wormian bones, Oste...	OMIM:249420
Spondyloepiphyseal Dysplasia Tarda	Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse...	ORPHA:93284
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Femoral bowing, Tibial bowing, Short long bone, Short metacarpal, J...	OMIM:608940
Spondylometaphyseal Dysplasia, Pagnamenta Type	Short 4th metacarpal, Femoral bowing, Broad thumb, Delayed skeletal maturation, Short 5th metacar...	OMIM:619638
Dysplasia Epiphysealis Hemimelica	Tarsal synostosis, Abnormal femur morphology, Genu valgum, Irregular epiphyses, Bone pain, Joint ...	ORPHA:1822
Mycetoma	Bone cyst, Abnormal appendicular skeleton morphology, Abnormal bone structure, Osteoporosis, Pain...	ORPHA:2583
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Decreased calvarial ossification, Multiple prenatal fractures, Bowing of limbs due to multiple fr...	OMIM:259410
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga...	ORPHA:1972
Osteogenesis Imperfecta, Type Xviii	Vertebral compression fracture, Wormian bones, Femoral bowing, Abnormality of the dentition, Bowi...	OMIM:617952
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Bone pain, Fe...	OMIM:241530
Cole-Carpenter Syndrome 1	Osteopenia, Reduced bone mineral density, Vertebral compression fracture, Scoliosis, Microdontia,...	OMIM:112240
Acrodysostosis	Abnormal femur morphology, Abnormal form of the vertebral bodies, Short metacarpal, Accelerated s...	ORPHA:950
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Supernumerary tooth, Short finger, Cone-shaped epiphyses of the middle phalanges of t...	OMIM:190351
Surfactant Metabolism Dysfunction, Pulmonary, 3	Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol...	OMIM:610921
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Hypoplastic ...	ORPHA:93315
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Pulmonary fibrosis	ORPHA:2111
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated...	OMIM:605274
Cleft Palate, Isolated	Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate	OMIM:119540
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Clubbing, Pleural effusion, ...	OMIM:612387
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Recurrent fractures, Anemia, Splenomegaly	OMIM:618107
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Diaphyseal sclerosis, Mandibular prognathia, Cortical sclerosis, Short...	OMIM:122860
Osteogenesis Imperfecta, Type Vii	Osteopenia, Rhizomelia, Crumpled long bones, Vertebral compression fracture, Femoral retroversion...	OMIM:610682
Hypersensitivity Pneumonitis, Familial	Hypersensitivity pneumonitis	OMIM:145300
Pulmonary Hemosiderosis	Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis	OMIM:178550
Autosomal Recessive Kenny-Caffey Syndrome	Postnatal growth retardation, Calvarial osteosclerosis, Delayed cranial suture closure, Decreased...	ORPHA:93324
Limited Cutaneous Systemic Sclerosis	Joint contracture of the hand, Narrow foramen obturatorium, Foot joint contracture, Pulmonary fib...	ORPHA:220402
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5	Bone marrow hypocellularity, Pulmonary fibrosis	OMIM:618674
Osteogenesis Imperfecta, Type Ii	Absent ossification of calvaria, Large fontanelles, Crumpled long bones, Disproportionate short-l...	OMIM:166210
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Disproportionate short-limb short stature, Scoliosis, Wormian bones, Osteoporosis,...	OMIM:619131
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Fibular hypoplasia, Cryptorchidism, Absent thumb, Aplasia/Hypoplasia of t...	OMIM:612447
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612286
Harrod Syndrome	Abnormal shoulder morphology, Scoliosis, Narrow mouth, High palate, Abnormal pelvic girdle bone m...	ORPHA:2115
Myopathy, Myofibrillar, 8	Tall stature, Joint contracture of the 5th finger, Distal joint hypermobility, Scoliosis, High pa...	OMIM:617258
Interstitial Lung Disease 1	Clubbing, Intralobular septal thickening, Nonspecific interstitial pneumonia, Elevated bronchoalv...	OMIM:619611
Schnitzler Syndrome	Anemia, Increased bone mineral density, Arthritis, Bone pain, Leukocytosis, Increased circulating...	ORPHA:37748
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Retrognathia, Hip subluxation, Genu valgum, Platyspondyly, Broad mid...	OMIM:618853
Regional Odontodysplasia	Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de...	ORPHA:83450
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Kyphoscoliosis, Platyspondyly, Talipes equinovarus, Flared metaphysis, Dysplasia of t...	OMIM:615349
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Amelogenesis Imperfecta	Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati...	ORPHA:88661
Pseudoachondroplasia	Disproportionate short-limb short stature, Short long bone, Short metacarpal, Kyphosis, Metaphyse...	OMIM:177170
Acheiropody	Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to...	OMIM:200500
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia	OMIM:246570
Hypophosphatasia, Infantile	Anemia, Unossified vertebral bodies, Disproportionate short-limb short stature, Metaphyseal cuppi...	OMIM:241500
Lowry-Maclean Syndrome	Intrauterine growth retardation, Craniosynostosis, Cleft palate, Delayed eruption of teeth	OMIM:600252
Auriculocondylar Syndrome 2A	Short mandibular rami, Dental crowding, Mandibular condyle hypoplasia, Temporomandibular joint an...	OMIM:614669
Dentinogenesis Imperfecta	Fragile teeth, Grayish enamel, Joint hypermobility, Yellow-brown discoloration of the teeth, Sele...	ORPHA:49042
Hall-Riggs Syndrome	Microdontia of primary teeth, Hypoplasia of the primary teeth, Thick lower lip vermilion, Platysp...	OMIM:234250
Hall-Riggs Syndrome	Abnormal metaphysis morphology, Platyspondyly, Delayed eruption of teeth, Abnormal dental enamel ...	ORPHA:2107
46,Xx Gonadal Dysgenesis	Osteopenia, Reduced bone mineral density, Osteoporosis of vertebrae, Arachnodactyly, Pulmonary fi...	ORPHA:243
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Postnatal growth retardation, Clinodactyly of the 5th finger, Small for gestational age, Delayed ...	ORPHA:73272
Hajdu-Cheney Syndrome	Kyphoscoliosis, Dislocated radial head, Biconcave vertebral bodies, Crowded carpal bones, Patholo...	OMIM:102500
Otopalatodigital Syndrome, Type I	Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor...	OMIM:311300
Progeria-Short Stature-Pigmented Nevi Syndrome	Fragile teeth, Osteopenia, Delayed puberty, Small for gestational age, Selective tooth agenesis, ...	ORPHA:2959
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Diaphyseal cortical sclerosis, Osteopenia, Metaphyseal striations, Fractures of the long bones, P...	OMIM:112250
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Genu valgum, Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, ...	ORPHA:2972
Otospondylomegaepiphyseal Dysplasia	Sandal gap, Tibial bowing, Glossoptosis, Abnormally ossified vertebrae, Short metacarpal, Bifid u...	ORPHA:1427
Potocki-Lupski Syndrome	Dental crowding, Mandibular prognathia, Scoliosis, High palate, Short stature, Failure to thrive,...	OMIM:610883
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the philtrum, High palate, Tooth...	ORPHA:2863
Chst3-Related Skeletal Dysplasia	Kyphoscoliosis, Genu valgum, Rhizomelia, Irregular epiphyses, Small epiphyses, Delayed eruption o...	ORPHA:263463
Osteogenesis Imperfecta, Type Xvii	Kyphoscoliosis, Reduced bone mineral density, Platyspondyly, Thin metacarpal cortices, Vertebral ...	OMIM:616507
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodactyly, Syndactyly, Long philtrum, ...	OMIM:265000
Arthrogryposis, Distal, Type 2A	Rocker bottom foot, Kyphoscoliosis, Flexion contracture of toe, Dental crowding, Wrist flexion co...	OMIM:193700
Achondrogenesis Type 1A	Short foot, Abnormal enchondral ossification, Micromelia, Short palm, Micrognathia, Severe short ...	ORPHA:93299
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Large fontanelles, Abnorma...	ORPHA:2511
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Intralobular septal ...	OMIM:610913
Neonatal Severe Primary Hyperparathyroidism	Abnormal metaphysis morphology, Recurrent fractures, Splenomegaly, Short stature	ORPHA:417
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Dental crowding, Paranasal sinus hypoplasia, Arachnodactyly, Bifid uv...	OMIM:300373
Chondrodysplasia, Blomstrand Type	Abnormal vertebral morphology, Flared metaphysis, Squared iliac bones, Micromelia, Accelerated sk...	OMIM:215045
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Wormian bones, Osteoporosis, Short distal phalanx of finger, Brachydactyly, Joint hypermobility	ORPHA:2787
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Anemia, Delayed erup...	ORPHA:667
Majeed Syndrome	Hypochromic microcytic anemia, Increased bone mineral density, Bone pain, Leukocytosis, Synovitis...	ORPHA:77297
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Platyspondyly, Flared metaphysis, Wormian bones, Decreased skull ossification, Multip...	OMIM:616897
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Short stature, Dental malocclusion, Widely spaced teeth, Malar flattening	OMIM:616108
Laron Syndrome	Delayed puberty, Delayed eruption of teeth, Microdontia, Tooth agenesis, Delayed skeletal maturat...	ORPHA:633
Hemifacial Atrophy, Progressive	Short mandibular rami, Delayed eruption of teeth, Kyphosis, Dental malocclusion, Tongue atrophy	OMIM:141300
Hamamy Syndrome	Everted lower lip vermilion, Wide mouth, Syndactyly, Long philtrum, Craniosynostosis, Long toe, N...	OMIM:611174
Tricho-Dento-Osseous Syndrome	Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Increased bone mineral densit...	ORPHA:3352
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9	Pulmonary fibrosis	OMIM:620400
Dent Disease 1	Rickets, Fibular bowing, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowin...	OMIM:300009
Proteus Syndrome	Calvarial hyperostosis, Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Thin bony cortex	OMIM:176920
Sclerosteosis 1	Tooth malposition, Mandibular prognathia, Overgrowth, Abnormal pelvic girdle bone morphology, Dev...	OMIM:269500
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Postnatal growth retardation, Anemia, Lower-limb metaphyseal irregularity, Enlarged metaphyses, S...	OMIM:618728
Familial Osteodysplasia, Anderson Type	Aplasia/hypoplasia of the femur, Abnormal zygomatic bone morphology, Abnormal cortical bone morph...	ORPHA:2769
Amelogenesis Imperfecta, Type Iiia	Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion	OMIM:130900
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Rocker bottom foot, Congenital hip dislocation, Multiple prenatal fractures, Arachnod...	OMIM:271225
Autosomal Recessive Hypophosphatemic Rickets	Polyarticular arthritis, Tibial bowing, Craniosynostosis, Genu varum, Rickets of the lower limbs,...	ORPHA:289176
Blepharophimosis-Impaired Intellectual Development Syndrome	Widely spaced teeth, Clinodactyly of the 5th finger, Short philtrum, Scoliosis, Exaggerated cupid...	OMIM:619293
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Palmoplantar cutis gyrata, Dislocated radial head, Arachnodactyly, Accelerated skeletal maturatio...	OMIM:130070
Smith-Mccort Dysplasia 2	Limited elbow extension, Genu valgum, Platyspondyly, Short metatarsal, Mandibular prognathia, Hyp...	OMIM:615222
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Severe postnatal growth retardation, Thoracic kyphoscoliosis, Short middle phalanx of the 5th fin...	OMIM:203550
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Short stature, Micrognathia, Malar flattening, Brachydactyly, Dental malocclusion, Diastema	ORPHA:436245
Oncogenic Osteomalacia	Abnormal fibula morphology, Abnormal femur morphology, Pathologic fracture, Bone pain, Tibial bow...	ORPHA:352540
Rothmund-Thomson Syndrome	Aplastic anemia, Reduced bone mineral density, Microdontia, Palmar hyperkeratosis, Neutropenia, H...	ORPHA:2909
Fanconi Anemia, Complementation Group S	Narrow palate, Anemia, Proximal placement of thumb, Short stature, Failure to thrive, Thick upper...	OMIM:617883
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Abnormal long bone morphology, Calvarial hyperostosis, Pathologic fracture, Osteolysis, Increased...	ORPHA:52430
Multiple Enchondromatosis, Maffucci Type	Pathologic fracture	OMIM:614569
Chronic Beryllium Disease	Hypersensitivity pneumonitis, Lymphocytic interstitial pneumonia, Reticulonodular pattern on pulm...	ORPHA:133
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization	OMIM:617217
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Oliver Syndrome	Clinodactyly of the 5th finger, Short philtrum, Mandibular prognathia, Elbow flexion contracture,...	ORPHA:2920
Auriculocondylar Syndrome 1	Anterior open-bite malocclusion, Dental crowding, Mandibular condyle hypoplasia, Glossoptosis, Na...	OMIM:602483
Shprintzen-Goldberg Craniosynostosis Syndrome	Narrow palate, Osteopenia, Genu valgum, Dislocated radial head, Wide anterior fontanel, Scoliosis...	OMIM:182212
Acromicric Dysplasia	Cone-shaped epiphysis, Thick lower lip vermilion, Short long bone, Narrow mouth, Short metacarpal...	OMIM:102370
Brachydactyly, Type E2	Short metatarsal, Delayed eruption of teeth, Oligodontia, Short metacarpal, Short stature, Brachy...	OMIM:613382
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Clubbing of fingers,...	ORPHA:2302
Multiple Pterygium Syndrome, X-Linked	Short finger, Multiple pterygia, Joint dislocation, Cleft upper lip, Micrognathia, Cleft palate, ...	OMIM:312150
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Retrognathia, Clinodactyly of the 5th finger, Periodontitis, Cone-shaped epiphyses of...	OMIM:619269
Satb2-Associated Syndrome Due To A Pathogenic Variant	Osteopenia, Postnatal growth retardation, Abnormality of the hand, Clinodactyly of the 5th finger...	ORPHA:576283
Aredyld Syndrome	Advanced eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology, Mandibu...	ORPHA:1133
Apert Syndrome	Limited elbow movement, Broad thumb, Bifid uvula, Syndactyly, Craniosynostosis, Narrow palate, Po...	OMIM:101200
Hypothyroidism, Congenital, Nongoitrous, 6	Anemia, Delayed eruption of teeth, Increased body weight, Congenital hip dislocation, Growth dela...	OMIM:614450
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, Arthrogryposis multiplex congenita, High palate, Dental malocclusion	OMIM:608931
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Postnatal growth retardation, Platyspondyly, Scoliosis, Elbow flexion contracture, Ab...	OMIM:612394
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Recurrent fractures	ORPHA:2773
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Supernumerary tooth, Talipes equinovarus, Scoliosis, High palate, Cutaneous abscess, Persistence ...	OMIM:619752
Multiple Epiphyseal Dysplasia, Lowry Type	Fibular hypoplasia, Cleft hard palate, Fixed elbow flexion, Genu valgum, Rhizomelia, Delayed epip...	ORPHA:166016
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level...	OMIM:611926
Infantile Systemic Hyalinosis	Osteopenia, Gingival overgrowth, Osteoporosis, Micromelia, Abnormal dental morphology, Joint stif...	ORPHA:2176
Schwartz-Jampel Syndrome	Flexion contracture of toe, Cachexia, Hyperlordosis, Everted lower lip vermilion, Abnormally ossi...	ORPHA:800
Oligodontia	Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age...	ORPHA:99798
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Cranial hyperostosis, Hip dysplasia, Pulmonary fibrosis	ORPHA:457240
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Atelectasis, ...	ORPHA:254361
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal pulmonary interstitial morphology	ORPHA:401835
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Emphysema, Pulmonary fibrosis	OMIM:620365
Carpenter Syndrome 1	Flared iliac wing, Duplication of the proximal phalanx of the hallux, Coxa valga, Genu varum, Sco...	OMIM:201000
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Fractures of the long bones, Wide humerus, Osteoporosis, Abnormal dental morphology, ...	ORPHA:319195
Kabuki Syndrome 2	Postnatal growth retardation, Joint hypermobility, Short 5th finger, Prominent fingertip pads, Hi...	OMIM:300867
X-Linked Hypophosphatemia	Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,...	ORPHA:89936
Aarskog-Scott Syndrome	Orofacial cleft, Clinodactyly of the 5th finger, Delayed eruption of teeth, Finger syndactyly, Si...	ORPHA:915
Amyloidosis, Primary Localized Cutaneous, 2	Cutaneous amyloidosis	OMIM:613955
Acrocraniofacial Dysostosis	Advanced eruption of teeth, Genu valgum, Short 1st metacarpal, Abnormal hip bone morphology, Shor...	ORPHA:949
Codas Syndrome	Delayed eruption of teeth, Abnormal form of the vertebral bodies, Abnormal dental enamel morpholo...	ORPHA:1458
Osteogenesis Imperfecta	Reduced bone mineral density, Abnormal femur morphology, Abnormal hip bone morphology, Abnormal f...	ORPHA:666
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Thin vermilion border, Kyphoscoliosis, Second metatarsal posteriorly placed, ...	OMIM:214150
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Pathologic ...	OMIM:601559
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity...	ORPHA:93322
Aspergillosis	Hypersensitivity pneumonitis, Abnormal long bone morphology, Pleuritis, Increased circulating IgE...	ORPHA:1163
Arthrogryposis, Distal, Type 3	Kyphoscoliosis, Bifid uvula, Overlapping toe, Scoliosis, Ulnar deviation of the hand or of finger...	OMIM:114300
Chromosome 16Q22 Deletion Syndrome	Postnatal growth retardation, Single transverse palmar crease, Wide anterior fontanel, High palat...	OMIM:614541
3M Syndrome	Rocker bottom foot, Hyperlordosis, Everted lower lip vermilion, Kyphosis, Hypoplastic ischia, Hyp...	ORPHA:2616
Smith-Mccort Dysplasia 1	Beaking of vertebral bodies, Genu valgum, Irregular epiphyses, Platyspondyly, Hypoplastic acetabu...	OMIM:607326
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgE, Decreased circulating IgG level, Recurrent sinopulmonary infections, P...	OMIM:618394
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Postnatal growth retardation, Short first metatarsal, Ulnar bowing, Epiph...	OMIM:619135
Hallermann-Streiff Syndrome	Hyperlordosis, Everted lower lip vermilion, Joint hypermobility, Narrow palate, Decreased number ...	OMIM:234100
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Kyphoscoliosis, Tall stature, Dental crowding, Bifid uvula, Short philtrum, Scoliosis, Osteoporos...	OMIM:309583
Osteopetrosis With Renal Tubular Acidosis	Retrognathia, Osteopetrosis, Thick lower lip vermilion, Anemia, Tooth malposition, Pancytopenia, ...	ORPHA:2785
Cerebellofaciodental Syndrome	Genu valgum, Clinodactyly of the 5th finger, Slender long bone, Single transverse palmar crease, ...	OMIM:616202
Acrofacial Dysostosis Syndrome Of Rodriguez	Fibular hypoplasia, Triphalangeal thumb, Short philtrum, Single transverse palmar crease, Wide an...	OMIM:201170
Temple-Baraitser Syndrome	Everted upper lip vermilion, Delayed eruption of teeth, Triangular shaped distal phalanx of the t...	ORPHA:420561
Short Syndrome	Radial deviation of finger, Small for gestational age, Delayed eruption of teeth, Slender long bo...	OMIM:269880
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Kyphoscoliosis, Hypophosphatemic rickets, Abnormality of dental color, Abnormal finge...	OMIM:163200
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Platyspondyly, Juvenile rheumatoid arthritis, Pancytopenia, Delayed ...	ORPHA:1855
Amyloidosis, Cutaneous Bullous	Amyloidosis	OMIM:204900
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Postnatal growth retardation, Scoliosis, Bilateral talipes equinovarus, Hand clenching, Flexion c...	ORPHA:319332
Al-Gazali Syndrome	Osteopenia, Broad distal phalanx of finger, Bowed humerus, Proximal radio-ulnar synostosis, Wrist...	OMIM:609465
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Multiple joint dislocation, Sandal gap, Enlarged metaphyses, Dislocated radial head, Knee disloca...	OMIM:245600
Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Subluxation of the small joints of the hand, Abnormal femoral head morphology, Ab...	ORPHA:536471
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Disproportionate short-limb short stature, Anterior scalloping of vertebral bodies, Hypoplastic i...	OMIM:611717
Hypophosphatasia, Childhood	Short stature, Carious teeth, Premature loss of primary teeth, Craniosynostosis, Bowing of the legs	OMIM:241510
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Clinodactyly of the 5th finger, Tooth malposition, Metaphyseal cupping, Clubbing of f...	OMIM:156400
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
Premature Aging Syndrome, Penttinen Type	Retrognathia, Tibial bowing, Delayed skeletal maturation, Flexion contracture of finger, Short di...	OMIM:601812
Greenberg Dysplasia	Retrognathia, Disproportionate short-limb short stature, Short long bone, Decreased skull ossific...	OMIM:215140
Acute Interstitial Pneumonia	Atelectasis, Pleural effusion, Bronchiectasis, Interlobular septal thickening, Pulmonary fibrosis...	ORPHA:79126
Camurati-Engelmann Disease	Delayed puberty, Limb pain, Genu valgum, Anemia, Diaphyseal sclerosis, Increased bone mineral den...	OMIM:131300
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
Fibrous Dysplasia Of Bone	Abnormal femur morphology, Pathologic fracture, Osteolysis, Rickets, Abnormality of the sphenoid ...	ORPHA:249
Zimmermann-Laband Syndrome	Supernumerary tooth, Deep palmar crease, Gingival fibromatosis, Anterior open-bite malocclusion, ...	ORPHA:3473
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Hyperextensibility of ...	OMIM:619797
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Joint hypermobility, Reduced bone mineral density, Recurrent fractures	OMIM:619115
Multiple Pterygium Syndrome, Lethal Type	Short finger, Multiple pterygia, Joint dislocation, Micrognathia, Cleft palate, Flexion contractu...	OMIM:253290
Marbach-Rustad Progeroid Syndrome	Femur fracture, Reduced bone mineral density, Short clavicles, Eruption failure, Wormian bones, N...	OMIM:619322
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Aplasia/hypoplasia involving bones of the upper limbs, Short metacarpal, Microdo...	ORPHA:221016
Cranioectodermal Dysplasia	Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Joint hypermobility, ...	ORPHA:1515
48,Xxyy Syndrome	Tall stature, Thick lower lip vermilion, Clinodactyly of the 5th finger, Abnormal shoulder morpho...	ORPHA:10
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Clinodactyly of the 5th toe, Dental crowding, Short metacarpal, Delayed sk...	OMIM:170390
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Delayed eruption of teeth, Wide anterior fontanel, High palate, E...	OMIM:619736
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Congenital bilateral hip dislocation, Tibial bowing, Micrognathia, Limb under...	ORPHA:453510
Felty Syndrome	Recurrent pharyngitis, Pleuritis, Arthritis, Limitation of joint mobility, Synovitis, Bone marrow...	ORPHA:47612
Campomelic Dysplasia	Fibular hypoplasia, Poorly ossified cervical vertebrae, Tracheomalacia, Tracheobronchomalacia, Sc...	ORPHA:140
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Short long bone, Prominent interphalangeal joints, Short stature, Short palm, Short phalanx of fi...	OMIM:215150
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Reduced bone mineral density, Hypophosphatemic rickets, Pathologic fracture, Bone pain, Osteomala...	ORPHA:157215
Pachydermoperiostosis	Anemia, Abnormal cortical bone morphology, Avascular necrosis, Bone pain, Arthritis, Limitation o...	ORPHA:2796
Faciocardiomelic Syndrome	Osteopenia, Polydactyly, Large for gestational age, Slender long bone, Cuboid-shaped vertebral bo...	OMIM:612731
Progeroid Syndrome, Petty Type	Wide anterior fontanel, Mandibular prognathia, Decreased skull ossification, Everted lower lip ve...	ORPHA:2963
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Scoliosis, High palate, Failure to thrive, Micrognathia, Dental malocclusion, Contrac...	ORPHA:329178
Turnpenny-Fry Syndrome	Hypoplasia of the primary teeth, Dental crowding, Thoracic kyphoscoliosis, Microdontia, Delayed s...	OMIM:618371
Orofaciodigital Syndrome Type 10	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin...	ORPHA:2756
Pseudohypoparathyroidism, Type Ia	Short finger, Short metatarsal, Delayed eruption of teeth, Short metacarpal, Subcutaneous ossific...	OMIM:103580
Shox-Related Short Stature	Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Scoliosis, Tibial...	ORPHA:314795
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgE, Decreased circulating IgG level, Pulmonary fibrosis, Decreased circula...	OMIM:619510
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Decreased calvarial ossification, Joint hypermobility, Recurrent fractures	ORPHA:2772
Trichothiodystrophy 6, Nonphotosensitive	Increased bone mineral density, Coronal craniosynostosis, Delayed skeletal maturation, Increased ...	OMIM:616943
Momo Syndrome	Thick lower lip vermilion, Delayed eruption of teeth, High palate, Overgrowth, Short sternum, Del...	OMIM:157980
Aggressive Systemic Mastocytosis	Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Bone pain, Leukemia, Leukocytosis...	ORPHA:98850
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Hemosiderin-laden macrophages in bronchoalveolar fluid, Arthritis, Abnormal pulmonary interstitia...	OMIM:616414
Atelosteogenesis, Type Iii	Widened distal phalanges, Tombstone-shaped proximal phalanges, Rhizomelia, Sandal gap, Hitchhiker...	OMIM:108721
Craniolenticulosutural Dysplasia	Thin vermilion border, Large fontanelles, Delayed eruption of teeth, Premature loss of teeth, Sco...	ORPHA:50814
Ramon Syndrome	Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morpholog...	ORPHA:3019
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Joint contracture, Pulmonary fibrosis	OMIM:615704
Craniolenticulosutural Dysplasia	Osteopenia, Delayed closure of the anterior fontanelle, Delayed eruption of teeth, Wide anterior ...	OMIM:607812
ERI1-related disease	Dislocated radial head, Oligodactyly, Delayed skeletal maturation, Syndactyly, Slender metacarpal...	OMIM:608739
Metaphyseal Chondrodysplasia, Schmid Type	Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia...	OMIM:156500
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Antley-Bixler Syndrome	Delayed cranial suture closure, Femoral bowing, Narrow mouth, Joint stiffness, Camptodactyly of f...	ORPHA:83
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Postnatal growth retardation, Broad secondary alveolar ridge, High palate, Multiple suture cranio...	ORPHA:3369
Saul-Wilson Syndrome	Postnatal growth retardation, Platyspondyly, Short metatarsal, Talipes equinovarus, Cone-shaped e...	OMIM:618150
Lessel-Kreienkamp Syndrome	Clinodactyly of the 5th finger, Wide cranial sutures, Open mouth, Dental malocclusion, Thin upper...	OMIM:619149
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Amyloidosis	OMIM:204850
Catifa Syndrome	Delayed eruption of teeth, Tooth malposition, Increased overbite, Camptodactyly, Cleft palate, Lo...	OMIM:618761
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Recurrent mandibular subluxations, Postnatal growth retardation, Gingival hyperkerato...	OMIM:225410
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Abnormal form of the vertebral bodies, Synostosis of carp...	ORPHA:3238
Palmoplantar Carcinoma, Multiple Self-Healing	Amyloidosis, Finger joint hypermobility, Cutaneous macular amyloidosis	OMIM:615225
Ruvalcaba Syndrome	Limited elbow extension, Delayed puberty, Short metatarsal, Dental crowding, Scoliosis, Short met...	OMIM:180870
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Fused cervical vertebrae, Osteolysis, Pulmonary fibrosis, Osteomyelitis	OMIM:612852
Desbuquois Dysplasia 2	Dental crowding, Short long bone, Flat acetabular roof, Short metacarpal, Knee dislocation, Broad...	OMIM:615777
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Pathologic fracture, Bone cyst	OMIM:221770
Autosomal Recessive Cutis Laxa Type 2A	Postnatal growth retardation, Wide anterior fontanel, Delayed cranial suture closure, Congenital ...	ORPHA:357058
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Kyphoscoliosis, Bilateral single transverse palmar creases, Multiple carpal ossification centers,...	OMIM:143095
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Postnatal growth retardation, Short philtrum, Scoliosis, High palate, Short foot, Intrauterine gr...	ORPHA:254531
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Flexion contracture, Pulmonary fibrosis, Narrow foramen obturatorium, Osteolysis	ORPHA:220393
Maffucci Syndrome	Bone pain, Recurrent fractures, Osteolysis	ORPHA:163634
Gollop-Wolfgang Complex	Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ...	ORPHA:1986
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT	ORPHA:60026
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Reduced bone mineral density, Recurrent fractures	ORPHA:137608
Three M Syndrome 1	Hyperlordosis, Hypoplastic pelvis, Delayed skeletal maturation, Long philtrum, Short 5th finger, ...	OMIM:273750
Bent Bone Dysplasia Syndrome 1	Hypoplastic pubic bone, Short clavicles, Gingival overgrowth, Coronal craniosynostosis, Decreased...	OMIM:614592
Myopathy, Centronuclear, X-Linked	High palate, Birth length greater than 97th percentile, Arachnodactyly, Flexion contracture, Dent...	OMIM:310400
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Multiple joint dislocation, Microdontia, Arachnodactyly, Slender long bones with ...	ORPHA:536467
Coffin-Lowry Syndrome	Abnormal form of the vertebral bodies, Everted lower lip vermilion, Short metacarpal, Kyphosis, D...	ORPHA:192
Cri-Du-Chat Syndrome	Orofacial cleft, Thick lower lip vermilion, Short metatarsal, Short philtrum, Anterior open-bite ...	OMIM:123450
Coffin-Siris Syndrome 3	Joint hypermobility, Scoliosis, High palate, Short stature, Delayed skeletal maturation, Cleft pa...	OMIM:614608
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Polydactyly, Postnatal growth retardation, Clinodactyly of the 5th finger, Dental crowding, High ...	ORPHA:231140
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Clubbing, Respiratory tract infection, B...	ORPHA:79127
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad metatarsal, Accelerated skeletal maturation, Long philtrum, Joint hypermo...	ORPHA:439822
Craniometaphyseal Dysplasia, Autosomal Dominant	Cranial hyperostosis, Calvarial osteosclerosis, Tooth malposition, Flared metaphysis, Dental crow...	OMIM:123000
Acrodysostosis 2 With Or Without Hormone Resistance	Short metatarsal, Mandibular prognathia, Short metacarpal, Short phalanx of finger, Obesity, Mala...	OMIM:614613
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Premature loss of teeth, Bowing of the long bones, Os...	OMIM:239000
Hajdu-Cheney Syndrome	Delayed puberty, Partial absence of toe, Decreased skull ossification, Kyphosis, Biconcave verteb...	ORPHA:955
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Bone marrow hypocellularity, Pulmonary fibrosis	OMIM:614743
Acrofacial Dysostosis, Weyers Type	Advanced eruption of teeth, Solitary median maxillary central incisor, Clinodactyly of the 5th fi...	ORPHA:952
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Postnatal growth retardation, Large fontanelles, Wide distal femoral metaphysis, Small for gestat...	OMIM:613320
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ...	ORPHA:2141
Dentinogenesis Imperfecta, Shields Type Iii	Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p...	OMIM:125500
Stüve-Wiedemann Syndrome	Flexion contracture of finger, Intrauterine growth retardation, Scoliosis, Elbow flexion contract...	ORPHA:3206
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis involvin...	ORPHA:371428
Retinal Dystrophy With Or Without Extraocular Anomalies	Pulmonary fibrosis	OMIM:617175
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Metopic depression, Short clavicles, Gingival overgrowth, Steep acetabular roof, Hypo...	ORPHA:313855
Hypophosphatemic Rickets, X-Linked Dominant	Rickets, Metaphyseal irregularity, Hypophosphatemic rickets, Fibular bowing, Genu valgum, Cupped ...	OMIM:307800
Achondroplasia	Limited elbow extension, Narrow greater sciatic notch, Short proximal phalanx of finger, Thoracol...	ORPHA:15
Insulin-Like Growth Factor I Deficiency	Osteopenia, Postnatal growth retardation, Clinodactyly of the 5th finger, Decreased body weight, ...	OMIM:608747
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Sco...	ORPHA:88630
Kniest Dysplasia	Tibial bowing, Dumbbell-shaped long bone, Hypoplastic pelvis, Dumbbell-shaped femur, Genu varum, ...	OMIM:156550
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Pathologic fracture	OMIM:179800
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Restricted large joint movement, Abnormal vertebral morphology, Small epiphyses, Flared metaphysi...	ORPHA:93346
Spinocerebellar Ataxia, Autosomal Recessive 20	Kyphoscoliosis, Delayed eruption of teeth, Dental crowding, Scoliosis, High palate, Camptodactyly...	OMIM:616354
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Congenital Myopathy 17	Overlapping fingers, Mandibular prognathia, High palate, Tapered finger, Overlapping toe, Failure...	OMIM:618975
Blomstrand Lethal Chondrodysplasia	Neonatal short-limb short stature, Rhizomelia, Platyspondyly, Flared metaphysis, Increased bone m...	ORPHA:50945
Robinow Syndrome, Autosomal Dominant 3	Triangular mouth, Dental malocclusion, Gingival overgrowth, Scoliosis, Camptodactyly, Kyphosis, B...	OMIM:616894
Otopalatodigital Syndrome Type 2	Glossoptosis, Flared iliac wing, Hypoplastic frontal sinuses, Anodontia, Fibular aplasia, Tarsal ...	ORPHA:90652
Amyloidosis, Familial Visceral	Generalized amyloid deposition, Renal amyloidosis	OMIM:105200
Kenny-Caffey Syndrome, Type 1	Anemia, Calvarial osteosclerosis, Slender long bone, Decreased skull ossification, Proportionate ...	OMIM:244460
Amyloidosis, Primary Localized Cutaneous, 1	Cutaneous amyloidosis	OMIM:105250
Lethal Osteosclerotic Bone Dysplasia	Retrognathia, Large fontanelles, Gingival fibromatosis, Gingival overgrowth, Delayed cranial sutu...	ORPHA:1832
Cleft Lip/Palate	Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-...	ORPHA:199306
Mucopolysaccharidosis Type 4	Abnormal metaphysis morphology, Grayish enamel, Reduced bone mineral density, Genu valgum, Platys...	ORPHA:582
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Bone marrow hypocellularity, Abnormal pleura morphology, Pulmonary fibrosis	ORPHA:210136
Scedosporiosis	Pleuritis, Bronchitis, Pleural empyema, Arthralgia/arthritis, Septic arthritis, Pulmonary fibrosi...	ORPHA:449280
Orofaciodigital Syndrome Ii	Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, Scoliosis, Postaxi...	OMIM:252100
Oculofaciocardiodental Syndrome	Solitary median maxillary central incisor, Flexion contracture of the 2nd toe, Flexion contractur...	ORPHA:2712
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Large fontanelles, Delayed cranial suture closu...	ORPHA:2249
Sponastrime Dysplasia	Kyphoscoliosis, Disproportionate short-limb short stature, Short long bone, Short dental root, Mi...	ORPHA:93357
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Slender long bone, Single transverse palmar crease, Scoliosis, Tapered fi...	ORPHA:444072
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Bone pain, Osteomalacia, Recurrent fractures	OMIM:613388
Pseudohypoparathyroidism, Type Ic	Short metatarsal, Delayed eruption of teeth, Short metacarpal, Osteoporosis, Short stature, Ename...	OMIM:612462
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
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Sandal gap, Conical tooth, Oligodontia, Microdontia, Persistence of primary teeth, Enamel hypopla...	OMIM:618727
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Genu valgum, Clinodactyly of the 5th finger, Mandibular prognathia, Prominent fingertip pads, Ove...	OMIM:619721
Erdheim-Chester Disease	Abnormal metaphysis morphology, Abnormal pulmonary interstitial morphology, Increased bone minera...	ORPHA:35687
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Robinow Syndrome	Kyphoscoliosis, Mesomelic arm shortening, Broad alveolar ridges, Dental crowding, Mesomelia, Bifi...	ORPHA:97360
Spondyloepimetaphyseal Dysplasia, Missouri Type	Disproportionate short stature, Small epiphyses, Flared metaphysis, Pear-shaped vertebrae, Knee o...	ORPHA:93356
Craniosynostosis And Dental Anomalies	Narrow palate, Supernumerary tooth, Lambdoidal craniosynostosis, Delayed eruption of teeth, Denta...	OMIM:614188
Camurati-Engelmann Disease	Delayed puberty, Abnormal femur morphology, Cachexia, Hyperlordosis, Kyphosis, Leukopenia, Spleno...	ORPHA:1328
Coffin-Siris Syndrome 2	Thick lower lip vermilion, Short philtrum, Delayed eruption of teeth, Sandal gap, High palate, Sh...	OMIM:614607
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent lower respiratory tract infections, Partial absence of specific antibody response to Ha...	OMIM:618986
Faciodigitogenital Syndrome, Autosomal Recessive	Narrow palate, Clinodactyly of the 5th finger, High palate, Short foot, Camptodactyly, Proportion...	OMIM:227330
Hao-Fountain Syndrome	Large fontanelles, Hallux valgus, Clinodactyly of the 5th finger, Delayed cranial suture closure	OMIM:616863
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Postnatal growth retardation, Short philtrum, Small for gestational age, Scoliosis, Narrow mouth,...	ORPHA:96184
Orofaciodigital Syndrome Viii	Polydactyly, Short tibia, Syndactyly	OMIM:300484
Microphthalmia With Limb Anomalies	Retrognathia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypo...	OMIM:206920
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral ...	OMIM:620076
Craniometaphyseal Dysplasia, Autosomal Recessive	Flared metaphysis, Broad alveolar ridges, Mandibular prognathia, Club-shaped distal femur, Facial...	OMIM:218400
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap...	OMIM:135750
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Orofaciodigital Syndrome Xvii	Polydactyly, Retrognathia, High, narrow palate, Clubbing of fingers, Decreased body weight, Centr...	OMIM:617926
Cornelia De Lange Syndrome 2	Postnatal growth retardation, Limited elbow movement, Proximal placement of thumb, High palate, S...	OMIM:300590
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Disproportionate ...	ORPHA:3144
Cutis Laxa-Marfanoid Syndrome	Emphysema, Limitation of joint mobility, Arachnodactyly, Flexion contracture, Hip dislocation	ORPHA:171719
Rubinstein-Taybi Syndrome 1	Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Dental crowding, Hypoplasti...	OMIM:180849
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Lower limb pain, Subperiosteal bone formation, Osteosclerosis of the base of the skull	OMIM:609993
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Postnatal growth retardation, Genu valgum, Anemia, Metaphyseal sclerosis, Scoliosis, ...	OMIM:612199
Acromesomelic Dysplasia 4	Sandal gap, Short metacarpal, Accelerated skeletal maturation, Mesomelia, Metaphyseal irregularit...	OMIM:619636
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Kyphoscoliosis, Flared iliac wing, Delayed skeletal maturation, Flattened epiphysis, Wormian bone...	OMIM:300232
Mucolipidosis Ii Alpha/Beta	Short long bone, Flat acetabular roof, Flared iliac wing, Wide mouth, Splenomegaly, Bullet-shaped...	OMIM:252500
Au-Kline Syndrome	Retrognathia, Bifid uvula, Overlapping toe, Craniosynostosis, Coxa valga, Deep palmar crease, Oli...	OMIM:616580
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Oligoarthritis, AA amyloidosis, Pleuritis	OMIM:142680
Beta-Thalassemia Intermedia	Osteopenia, Reduced bone mineral density, Anemia of inadequate production, Leukocytosis, Osteopor...	ORPHA:231222
Cerebral Amyloid Angiopathy, Cst3-Related	Generalized amyloid deposition	OMIM:105150
Slc35A2-Cdg	Osteopenia, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Craniosynostosis...	ORPHA:356961
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Fibular hypoplasia, Pseudoarthrosis	OMIM:607278
Summitt Syndrome	Short 4th metacarpal, Tall stature, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyl...	ORPHA:3210
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Wide anterior fontanel, Increased circulating IgE level, Reduce...	OMIM:617241
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:204700
Cardiofaciocutaneous Syndrome 1	Osteopenia, Clinodactyly of the 5th finger, Deep palmar crease, Cubitus valgus, Hyperextensibilit...	OMIM:115150
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Retrognathia, Overjet, Thick lower lip vermilion, Short philtrum, Dental crowding, High palate, E...	OMIM:618342
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Retrognathia, Hypoplastic iliac wing, Tibial bowing, Microdontia, Delayed skeletal maturation, Sh...	OMIM:210720
48,Xxxy Syndrome	Tall stature, Clinodactyly of the 5th finger, Talipes equinovarus, Delayed eruption of teeth, Abn...	ORPHA:96263
Malan Syndrome	Retrognathia, Advanced eruption of teeth, Gingival overgrowth, Mandibular prognathia, Narrow mout...	OMIM:614753
Mccune-Albright Syndrome	Pathologic fracture, Craniofacial hyperostosis, Polyostotic fibrous dysplasia	OMIM:174800
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Abnormal pulmonary interstitial morphology, Decreased circulating antibody level, Abnormal natura...	OMIM:613101
Dubowitz Syndrome	Sandal gap, Broad thumb, Delayed skeletal maturation, Wide mouth, Abnormality of thumb phalanx, J...	ORPHA:235
Robinow Syndrome, Autosomal Recessive 1	Retrognathia, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head, Denta...	OMIM:268310
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Abnormality of primary teeth, Overgrowth, Tooth agenesis, Bifid uvula, Joint hypermobility, Crani...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Abnormality of primary teeth, Overgrowth, Tooth agenesis, Bifid uvula, Joint hypermobility, Crani...	ORPHA:352665
Pseudohypoparathyroidism Type 1B	Diaphyseal sclerosis, Increased bone mineral density, Delayed eruption of teeth, Cortical subperi...	ORPHA:94089
Noonan Syndrome 4	Large for gestational age, Cubitus valgus, Scoliosis, Short stature, Delayed skeletal maturation,...	OMIM:610733
Trichorhinophalangeal Syndrome Type 1	Supernumerary tooth, Clinodactyly of the 5th finger, Short metatarsal, Long upper lip, Hyperlordo...	ORPHA:77258
Heyn-Sproul-Jackson Syndrome	Decreased body weight, Short metacarpal, Broad metacarpals, Short phalanx of finger, Broad phalan...	OMIM:618724
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Short metacarpal, Microdontia, Tooth agenesis, Delayed skeletal maturation, Genu...	ORPHA:221008
Dent Disease	Rickets, Delayed epiphyseal ossification, Bone pain, Enlarged epiphyses, Sparse bone trabeculae, ...	ORPHA:1652
Grange Syndrome	Short palm, Syndactyly, Increased susceptibility to fractures	ORPHA:79094
Localized Scleroderma	Abnormal facial skeleton morphology, Sclerosis of finger phalanx, Arthritis, Abnormal bone struct...	ORPHA:90289
Mccune-Albright Syndrome	Abnormal femur morphology, Abnormal facial skeleton morphology, Aneurysmal bone cyst, Pancytopeni...	ORPHA:562
Aapoaiv Amyloidosis	Cutaneous amyloidosis, Renal interstitial amyloid deposits, Cardiac amyloidosis, Paraproteinemia,...	ORPHA:439232
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l...	OMIM:300106
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Osteopenia, Delayed eruption of teeth, Scoliosis, Gingivitis, Abnormality of the dentition, Eosin...	ORPHA:2314
Osteogenesis Imperfecta, Type Xx	Narrow palate, Retrognathia, Kyphoscoliosis, Disproportionate short-limb short stature, Vertebral...	OMIM:618644
Autosomal Dominant Kenny-Caffey Syndrome	Postnatal growth retardation, Anemia, Calvarial osteosclerosis, Delayed cranial suture closure, D...	ORPHA:93325
Multiple Pterygium-Malignant Hyperthermia Syndrome	Broad alveolar ridges, Kyphosis, Arachnodactyly, Severe short stature, Long philtrum, Prominence ...	ORPHA:2215
Mucopolysaccharidosis, Type Iva	Hyperlordosis, Kyphosis, Wide mouth, Constricted iliac wing, Large elbow, Joint hypermobility, Co...	OMIM:253000
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron...	ORPHA:98849
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615270
Rin2 Syndrome	Gingival overgrowth, Scoliosis, High palate, Irregular dentition, Brachydactyly, Long philtrum, J...	ORPHA:217335
Tetrasomy 12P	Delayed eruption of teeth, Abnormal soft palate morphology, Cachexia, Everted lower lip vermilion...	ORPHA:884
Gillessen-Kaesbach-Nishimura Syndrome	Narrow greater sciatic notch, Retrognathia, Wide anterior fontanel, Short long bone, Decreased sk...	OMIM:263210
Silver-Russell Syndrome 3	Postnatal growth retardation, Retrognathia, Clinodactyly of the 5th finger, Decreased body weight...	OMIM:616489
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp...	OMIM:268305
Maternal Uniparental Disomy Of Chromosome 1	Epiphyseal stippling, Pancytopenia, Single transverse palmar crease, Short stature, Growth delay,...	ORPHA:251009
Hoxha-Aliu Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho...	OMIM:620662
Takenouchi-Kosaki Syndrome	Widely spaced teeth, Proximal placement of thumb, Short philtrum, Scoliosis, Tapered finger, Camp...	OMIM:616737
Char Syndrome	Clinodactyly of the 5th finger, Short philtrum, Triangular mouth, Symphalangism of the 5th finger...	ORPHA:46627
Wrinkly Skin Syndrome	Microdontia, Kyphosis, Long philtrum, Joint hypermobility, Intrauterine growth retardation, Delay...	OMIM:278250
Coffin-Lowry Syndrome	Everted lower lip vermilion, Short metacarpal, Kyphosis, Delayed skeletal maturation, Broad palm,...	OMIM:303600
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Retrognathia, Thin lower lip vermilion, Abnormality of the dentition, Camptodactyly, Carious teet...	ORPHA:363444
Otodental Dysplasia	Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi...	OMIM:166750
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short long bone, Dumbbell-shaped long bone, Hypoplastic ischia, Lon...	OMIM:228520
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Absent trapezium, Cone-shaped epiphyses of the middle phalanges of the hand, Distal symphalangism...	OMIM:606895
Thiemann Disease	Short phalanx of finger, Broad phalanx, Avascular necrosis	OMIM:165700
Cornelia De Lange Syndrome 5	Limited elbow extension, Retrognathia, Thin vermilion border, Widely spaced teeth, Clinodactyly o...	OMIM:300882
Osteogenesis Imperfecta, Type X	Osteopenia, Genu valgum, Rhizomelia, Fibular bowing, Vertebral compression fracture, Platyspondyl...	OMIM:613848
Hypophosphatemic Rickets, Autosomal Recessive, 2	Genu valgum, Hypophosphatemic rickets, Short stature, Hypoplasia of teeth, Carious teeth, Coxa va...	OMIM:613312
Gaucher Disease Type 1	Osteopenia, Anemia, Increased circulating antibody level, Avascular necrosis, Pancytopenia, Bone ...	ORPHA:77259
12Q14 Microdeletion Syndrome	Thin vermilion border, Clinodactyly of the 5th finger, Osteopoikilosis, Scoliosis, Short stature,...	ORPHA:94063
Raine Syndrome	Subperiosteal bone formation, Microdontia, Wide mouth, Increased bone mineral density, Micromelia...	OMIM:259775
Melnick-Needles Syndrome	Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Short humerus,...	OMIM:309350
Amelogenesis Imperfecta, Type Ic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:204650
Mucopolysaccharidosis, Type Ivb	Hyperlordosis, Kyphosis, Joint stiffness, Wide mouth, Constricted iliac wing, Joint hypermobility...	OMIM:253010
Filippi Syndrome	Postnatal growth retardation, Thin vermilion border, Finger clinodactyly, Short philtrum, Single ...	OMIM:272440
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Postnatal growth retardation, Acromicria, Short foot, Downturned corners of mouth, Micrognathia, ...	ORPHA:254525
49,Xxxxy Syndrome	Clinodactyly of the 5th finger, Talipes equinovarus, Delayed eruption of teeth, Abnormal dental e...	ORPHA:96264
Brittle Cornea Syndrome	Abnormal epiphysis morphology, Camptodactyly, Osteoporosis, Arachnodactyly, Hip dysplasia, Joint ...	ORPHA:90354
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Bilateral cleft palate, Wide anterior fontanel, Absent d...	OMIM:619339
Microphthalmia With Limb Anomalies	Bilateral single transverse palmar creases, Sandal gap, Abnormal form of the vertebral bodies, Ab...	ORPHA:1106
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Large fontanelles, Scoliosis, Wormian bones, High palate, Bowing of the long bones, C...	OMIM:612940
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Delayed skeletal maturation, Reduced bone mineral density, Recurrent fractures, Osteoporosis	ORPHA:2235
Amelogenesis Imperfecta, Type Ih	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:616221
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed puberty, Palmoplantar keratoderma, Delayed eruption of teeth, Short stature, Hypodontia	ORPHA:1816
Roifman Syndrome	Postnatal growth retardation, Bilateral single transverse palmar creases, Biconvex vertebral bodi...	ORPHA:353298
Chitayat Syndrome	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Tracheomalacia, Bra...	OMIM:617180
Cockayne Syndrome B	Postnatal growth retardation, Square pelvis bone, Severe failure to thrive, Hypoplastic iliac win...	OMIM:133540
Coffin-Siris Syndrome 6	Kyphoscoliosis, Retrognathia, High, narrow palate, Short philtrum, Short stature, Micrognathia, C...	OMIM:617808
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Thick lower lip vermilion, Pancytopenia, Abnormality of the dentition, Everted lower lip vermilio...	ORPHA:85321
Dyskeratosis Congenita, Autosomal Dominant 3	Osteopenia, Abnormal pulmonary interstitial morphology, Osteoporosis, Bone marrow hypocellularity...	OMIM:613990
Craniosynostosis 2	Supernumerary tooth, Triphalangeal thumb, Unicoronal synostosis, Cleft soft palate, Bicoronal syn...	OMIM:604757
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Bone marrow hypocellularity, Decreased circulating antibody level, Pulmonary fibrosis	OMIM:619767
Peroxisome Biogenesis Disorder 7A (Zellweger)	Epiphyseal stippling, Wide anterior fontanel, High palate, Large posterior fontanelle, Long philt...	OMIM:614872
Idiopathic Pulmonary Hemosiderosis	Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Reticular pattern on pulmonary HR...	ORPHA:99931
Sapho Syndrome	Hyperostosis, Arthritis, Bone pain, Abnormal sacroiliac joint morphology, Synovitis, Enthesitis, ...	ORPHA:793
Ellis-Van Creveld Syndrome	Neonatal short-limb short stature, Genu valgum, Talipes equinovarus, Delayed eruption of teeth, D...	OMIM:225500
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Anemia, Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular ...	ORPHA:2325
Frontometaphyseal Dysplasia	Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Wrist flexion contra...	ORPHA:1826
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Rhizomelia, Platyspondyly, Small epiphyses, Ulnar bowing, Metaphyseal cu...	OMIM:602111
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Rocker bottom foot, Clinodactyly of the 5th finger, Exaggerated cupid's bow, Wide mouth, Thick ve...	OMIM:618506
Silver-Russell Syndrome 2	Clinodactyly of the 5th finger, 2-3 toe syndactyly, Short stature, Delayed skeletal maturation, D...	OMIM:618905
Atelosteogenesis Type Ii	Sandal gap, Bilateral cleft palate, Tracheobronchomalacia, Short metacarpal, Short lower limbs, D...	ORPHA:56304
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Camptodactyly, Micrognathia, Malar flattening, Dental malocclusion, Joint contracture of the hand	OMIM:608257
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Cystic pattern on pulmo...	OMIM:610978
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Premature loss of teeth, Osteolytic defects of the distal phalanges of the hand,...	OMIM:608612
Codas Syndrome	Genu valgum, Proximal placement of thumb, Delayed eruption of teeth, Delayed ossification of carp...	OMIM:600373
Adamantinoma	Pathologic fracture, Bone pain	ORPHA:55881
Lymphoid Interstitial Pneumonia	Clubbing, Bronchiectasis, Rheumatoid arthritis, Respiratory tract infection, Pulmonary fibrosis, ...	ORPHA:79128
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Kyphoscoliosis, Platyspondyly, Pathologic fracture, Vertebral compression fracture, S...	OMIM:259770
Gaucher Disease Type 3	Anemia, Increased circulating antibody level, Avascular necrosis, Pancytopenia, Increased bone mi...	ORPHA:77261
Acromesomelic Dysplasia 1	Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Sh...	OMIM:602875
Marshall-Smith Syndrome	Short mandibular rami, Retrognathia, Tall stature, Kyphoscoliosis, Prominent fingertip pads, Glos...	OMIM:602535
Aa Amyloidosis	Amyloidosis, Renal amyloidosis	ORPHA:85445
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Postnatal growth retardation, Abnormal bone ossification, Large fontanelles, Generalized bone dem...	ORPHA:73230
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Exaggerated cupid's bow, H...	ORPHA:2025
Omodysplasia 1	Limited elbow extension, Popliteal pterygium, Limited knee flexion/extension, Limited elbow flexi...	OMIM:258315
Greig Cephalopolysyndactyly Syndrome	1-3 toe syndactyly, Y-shaped metatarsals, Metopic synostosis, Delayed cranial suture closure, Pos...	OMIM:175700
Braddock Syndrome	Preaxial hand polydactyly, Pulmonary fibrosis	ORPHA:52047
Mandibuloacral Dysplasia With Type A Lipodystrophy	Dental crowding, Joint stiffness, Short distal phalanx of finger, Coxa valga, Elbow flexion contr...	OMIM:248370
De Barsy Syndrome	Osteopenia, Postnatal growth retardation, Adducted thumb, Kyphoscoliosis, Delayed eruption of tee...	ORPHA:2962
Acrocallosal Syndrome	Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid uvula, Wide mouth, Bifid di...	OMIM:200990
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Tibial bowing, Abnormally ossified vertebrae, Bowing of the long bone...	ORPHA:3035
Mixed Connective Tissue Disease	Abnormal pulmonary interstitial morphology, Pleuritis, Arthritis, Joint stiffness, Pulmonary fibr...	ORPHA:809
Teebi Hypertelorism Syndrome 1	Dental crowding, Coronal craniosynostosis, Short stature, Micrognathia, Natal tooth, Long philtru...	OMIM:145420
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ischia, Severe sh...	OMIM:210730
Brachydactyly, Type A1, C	Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge...	OMIM:615072
Silver-Russell Syndrome 1	Clinodactyly of the 5th finger, Delayed cranial suture closure, Short middle phalanx of the 5th f...	OMIM:180860
Chromosome 8Q22.1 Duplication Syndrome	Cubitus valgus, Cervical C2/C3 vertebral fusion, Short metatarsal, Genu recurvatum, Limitation of...	OMIM:151200
Grant Syndrome	Wormian bones, Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
Brachydactyly, Type E1	Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Brachydactyly, Moderat...	OMIM:113300
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:612529
Campomelic Dysplasia	Kyphoscoliosis, Disproportionate short-limb short stature, Absent sternal ossification, Dislocate...	OMIM:114290
Hypertrichosis Lanuginosa Congenita	Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth	ORPHA:2222
7Q11.23 Microduplication Syndrome	Thin vermilion border, Retrognathia, Cubitus valgus, Short philtrum, Tracheomalacia, Single trans...	ORPHA:96121
Chromosome 13Q33-Q34 Deletion Syndrome	Overlapping toe, Advanced eruption of teeth, Short philtrum, Camptodactyly, Short stature, Cleft ...	OMIM:619148
Seckel Syndrome	Clinodactyly of the 5th finger, Sandal gap, Abnormal dental enamel morphology, Scoliosis, Cachexi...	ORPHA:808
Gm1-Gangliosidosis, Type Ii	Sea-blue histiocytosis, Joint stiffness, Thin bony cortex, Splenomegaly, Coxa valga	OMIM:230600
Shwachman-Diamond Syndrome	Aplastic anemia, Macrocytic anemia, Abnormal finger morphology, Chronic neutropenia, Sinusitis, D...	ORPHA:811
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange...	ORPHA:2378
Lenz-Majewski Hyperostotic Dwarfism	Delayed skeletal maturation, Syndactyly, Joint hypermobility, Intrauterine growth retardation, El...	OMIM:151050
Cockayne Syndrome A	Square pelvis bone, Severe postnatal growth retardation, Hypoplastic iliac wing, Mandibular progn...	OMIM:216400
Roifman Syndrome	Postnatal growth retardation, Biconvex vertebral bodies, Clinodactyly of the 5th finger, Single t...	OMIM:616651
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Clubbing, Usual interstitial pneumonia, Pulmonary fibrosis	OMIM:620367
Hypertension And Brachydactyly Syndrome	Type E brachydactyly, Short metacarpal, Short stature, Short phalanx of finger, Cone-shaped epiph...	OMIM:112410
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Scoliosis, High palate, Wide mouth, Long philtrum, Ta...	OMIM:618825
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Bilateral single transverse palmar creases, Retrognathia, Hypoplastic iliac wing, Delayed skeleta...	OMIM:235510
Marden-Walker Syndrome	Postnatal growth retardation, High, narrow palate, Wide anterior fontanel, Scoliosis, Narrow mout...	OMIM:248700
Lowry-Maclean Syndrome	Osteopenia, Retrognathia, High, narrow palate, Widely patent coronal suture, Single transverse pa...	ORPHA:2409
Thrombocytopenia-Absent Radius Syndrome	Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Aplasia/Hypoplasia of ...	ORPHA:3320
Smith-Magenis Syndrome	Delayed puberty, Clinodactyly of the 5th finger, Short philtrum, Abnormal form of the vertebral b...	ORPHA:819
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Hypodontia-Dysplasia Of Nails Syndrome	Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti...	ORPHA:2228
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Congenital Disorder Of Glycosylation, Type Iig	Kyphoscoliosis, Short long bone, Glossoptosis, Broad femoral neck, Long philtrum, Intrauterine gr...	OMIM:611209
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
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Postnatal growth retardation, Bicoronal synostosis, Dental crowding, Oligodontia, Tracheobronchom...	OMIM:619184
Wiedemann-Steiner Syndrome	Delayed skeletal maturation, Accelerated skeletal maturation, Contracture of the distal interphal...	OMIM:605130
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Cleft palate, Abnormal mandible morphology, Natal tooth, Arthrogryposis multiplex congenita	OMIM:217150
Hallermann-Streiff Syndrome	Supernumerary tooth, High, narrow palate, Reduced bone mineral density, Clinodactyly of the 5th f...	ORPHA:2108
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Postnatal growth retardation, Widely spaced teeth, Proximal placement of thumb, Short philtrum, S...	ORPHA:487796
Gapo Syndrome	Abnormal metaphysis morphology, Abnormal palate morphology, Delayed eruption of teeth, Abnormal f...	ORPHA:2067
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Scoliosis, Short stature, Joint hypermobility, Bowing of limbs due to multiple fra...	OMIM:615220
Sarcoidosis, Susceptibility To, 1	Abnormal pulmonary interstitial morphology, Emphysema, Increased circulating antibody level, Bone...	OMIM:181000
Niemann-Pick Disease, Type B	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:607616
Phelan-Mcdermid Syndrome	Tall stature, Widely spaced teeth, Clinodactyly of the 5th finger, 2-3 toe syndactyly, High palat...	OMIM:606232
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival overgrowth, Gingival fibromatosis, Delayed eruption of teeth	ORPHA:2027
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/...	ORPHA:988
Robinow Syndrome, Autosomal Dominant 1	Retrognathia, Radial deviation of finger, Dislocated radial head, Dental crowding, Short long bon...	OMIM:180700
Silver-Russell Syndrome	Postnatal growth retardation, Thin vermilion border, Clinodactyly of the 5th finger, Sandal gap, ...	ORPHA:813
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Recurrent fractures	OMIM:620368
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wide anterior fontanel, Wormian bones, Bilateral talipes equinovarus, Mesomelia, Limb undergrowth...	OMIM:601356
Congenital Disorder Of Glycosylation, Type Ig	Hypoplasia of the radius, Rhizomelia, Hypospadias, Sandal gap, Short ribs, Cryptorchidism, Short ...	OMIM:607143
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short distal phalanx of toe, Narrow mouth, Microdontia, Bilateral triphalangeal thumbs, Micrognat...	OMIM:619356
Orofaciodigital Syndrome Iv	Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact...	OMIM:258860
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Scapular winging, Carious teeth, Clinodactyly, Down-sloping shoulders, Microretrognathia, Dental ...	OMIM:615560
Gingival Fibromatosis-Hypertrichosis Syndrome	Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth, Gingival fibromatosis	ORPHA:2026
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal palate morphology, Tarsal synostosis, Abnormal dental enamel morphology, Wide anterior f...	ORPHA:85199
Martsolf Syndrome 1	Slender ulna, Short metacarpal, Broad femoral neck, Long philtrum, Joint hypermobility, Short phi...	OMIM:212720
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Pulmonary fibrosis	ORPHA:1839
Idiopathic Hypercalciuria	Osteopenia, Osteoporosis	ORPHA:2197
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	OMIM:301200
Sanjad-Sakati Syndrome	Postnatal growth retardation, Thin vermilion border, Abnormal dental enamel morphology, Severe in...	ORPHA:2323
Paternal Uniparental Disomy Of Chromosome 1	Delayed puberty, Abnormal dental enamel morphology, Episodic hemolytic anemia, Short stature, Obe...	ORPHA:251004
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Genu valgum, Narrow mouth, Epiphyseal dysplasia, Short phalanx of finger, Short stature, Brachyda...	OMIM:132450
Antisynthetase Syndrome	Arthritis, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Pulmonar...	ORPHA:81
Ritscher-Schinzel Syndrome 2	Postnatal growth retardation, Clinodactyly of the 5th finger, Short philtrum, Wide anterior fonta...	OMIM:300963
Dyskeratosis Congenita, Autosomal Recessive 1	Bone marrow hypocellularity, Osteoporosis, Pulmonary fibrosis	OMIM:224230
Amyloidosis, Hereditary, Transthyretin-Related	Amyloidosis, Pulmonary edema	OMIM:105210
X-Linked Hypohidrotic Ectodermal Dysplasia	Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Microdontia,...	ORPHA:181
Bronchiolitis Obliterans	Bronchiectasis, Pneumonia, Respiratory tract infection, Bronchiolitis obliterans	ORPHA:1303
Cutis Laxa, Autosomal Recessive, Type Iia	Wide anterior fontanel, Scoliosis, Narrow mouth, High palate, Congenital hip dislocation, Carious...	OMIM:219200
Microcephaly-Micromelia Syndrome	Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi...	OMIM:251230
Q Fever	Amyloidosis, Abnormal pulmonary interstitial morphology, Increased circulating antibody level, Pl...	ORPHA:781
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Rocker bottom foot, Lambdoidal craniosynostosis, Ulnar bowing, Wide anterior fontanel, Femoral bo...	OMIM:207410
Microphthalmia, Syndromic 2	Sandal gap, Bifid uvula, Long philtrum, 2-3 toe cutaneous syndactyly, Radiculomegaly, Oligodontia...	OMIM:300166
Spondylocarpotarsal Synostosis Syndrome	Hyperlordosis, Short metacarpal, Delayed skeletal maturation, Tarsal synostosis, Bowed humerus, S...	OMIM:272460
Stickler Syndrome	Reduced bone mineral density, Abnormal form of the vertebral bodies, Cachexia, Glossoptosis, Kyph...	ORPHA:828
Pulmonary Alveolar Microlithiasis	Pneumothorax, Pleural thickening, Clubbing of fingers, Bronchitis, Stippled calcification in carp...	ORPHA:60025
Recon Progeroid Syndrome	Thin vermilion border, Anemia, Proximal placement of thumb, Dental crowding, Short stature, Arach...	OMIM:620370
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
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Osteoporosis, Pulmonary fibrosis	OMIM:613989
Idiopathic Trachyonychia	Amyloidosis	ORPHA:79153
Paget Disease Of Bone 6	Bone pain, Recurrent fractures, Osteoarthritis	OMIM:616833
Elsahy-Waters Syndrome	Agenesis of incisor, Supernumerary tooth, Thick lower lip vermilion, Cervical C2/C3 vertebral fus...	OMIM:211380
Rothmund-Thomson Syndrome, Type 2	Kyphoscoliosis, Supernumerary tooth, Delayed eruption of teeth, Mandibular prognathia, High palat...	OMIM:268400
Thanatophoric Dysplasia Type 1	Abnormal metaphysis morphology, Short greater sciatic notch, Wide anterior fontanel, Femoral bowi...	ORPHA:1860
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Narrow palate, Abnormal palate morphology, Abnormal fibula morphology, Abnormal femur morphology,...	ORPHA:2063
Kyphomelic Dysplasia	Platyspondyly, Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Pterygium...	OMIM:211350
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Kyphoscoliosis, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb,...	OMIM:304120
Dermatitis Herpetiformis	Delayed eruption of teeth, Bone pain, Microcytic anemia, Dental enamel pits, Erosion of oral muco...	ORPHA:1656
Moebius Syndrome	Radial deviation of finger, High palate, Abnormality of the dentition, Camptodactyly, Split hand,...	OMIM:157900
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Bronchiectasis, Clubbing, Recurrent pneumonia, Cutaneous amyloidosis	OMIM:301220
Hyperparathyroidism, Transient Neonatal	Osteopenia, Subperiosteal bone formation, Splenic cyst, Fractured rib, Femoral bowing, Short long...	OMIM:618188
15Q24 Microdeletion Syndrome	Postnatal growth retardation, Abnormal palate morphology, Abnormal thumb morphology, Thick lower ...	ORPHA:94065
Acromesomelic Dysplasia 2B	Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ...	OMIM:228900
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Disproportionate short-limb short stature, Triangular shaped distal phalanges of the hand, Short ...	OMIM:271665
Brachydactyly-Arterial Hypertension Syndrome	Short stature, Short phalanx of finger, Short metacarpal, Brachydactyly	ORPHA:1276
Orofaciodigital Syndrome Type 2	Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod...	ORPHA:2751
Mucopolysaccharidosis, Type Vi	Kyphoscoliosis, Hypoplastic iliac wing, Flared iliac wing, Joint stiffness, Splenomegaly, Metaphy...	OMIM:253200
Mohr-Tranebjaerg Syndrome	Increased susceptibility to fractures	OMIM:304700
Gomez-Lopez-Hernandez Syndrome	Thin vermilion border, Wide anterior fontanel, High palate, Short stature, Malar flattening, Smoo...	OMIM:601853
Otodental Syndrome	Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d...	ORPHA:2791
Blount Disease	Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi...	ORPHA:2768
Meier-Gorlin Syndrome 5	Slender long bone, Elbow dislocation, Intrauterine growth retardation, Prominent metopic ridge, H...	OMIM:613805
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Thin vermilion border, Clinodactyly of the 2nd finger, Conical incisor, Hyperlordosis...	ORPHA:73223
Saethre-Chotzen Syndrome	Narrow palate, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Tripha...	ORPHA:794
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Postnatal growth retardation, Thin vermilion border, Severe intrauterine growth retardation, Shor...	OMIM:241410
Ellis Van Creveld Syndrome	Microdontia, Abnormal oral frenulum morphology, Delayed skeletal maturation, Intrauterine growth ...	ORPHA:289
Rajab Interstitial Lung Disease With Brain Calcifications 2	Joint hypermobility, Arachnodactyly, Abnormal pulmonary interstitial morphology	OMIM:619013
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Bone Marrow Failure Syndrome 5	Decreased circulating antibody level, Pulmonary fibrosis	OMIM:618165
Dyskeratosis Congenita	Palmoplantar keratoderma, Anemia, Avascular necrosis, Periodontitis, Scoliosis, Abnormality of th...	ORPHA:1775
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Large for gestational age, Wide anterior fontanel, Overgrowth, Kyphosis, Micrognathia	OMIM:618272
Cutis Laxa, Autosomal Recessive, Type Iiia	Large fontanelles, Scoliosis, Wormian bones, Narrow mouth, Congenital hip dislocation, Short stat...	OMIM:219150
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Mandibular condyle hypoplasia, Gloss...	ORPHA:137888
Sting-Associated Vasculopathy, Infantile-Onset	Increased circulating IgG level, Increased circulating IgA level, Joint stiffness, Pulmonary fibr...	OMIM:615934
Familial Mediterranean Fever	Amyloidosis, Pleuritis, Arthritis, Pleural effusion, Renal amyloidosis	OMIM:249100
Congenital Disorder Of Glycosylation, Type Iib	Retrognathia, Overlapping fingers, High palate, Hand clenching, Thoracic scoliosis, Recurrent fra...	OMIM:606056
Microphthalmia, Lenz Type	Orofacial cleft, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Delayed eruption o...	ORPHA:568
Osteootohepatoenteric Syndrome	Reduced bone mineral density, Anemia, Hip dysplasia, Avascular necrosis of the capital femoral ep...	OMIM:619377
Sotos Syndrome	Narrow palate, Advanced eruption of teeth, High, narrow palate, Genu valgum, Tall stature, Mandib...	OMIM:117550
Oslam Syndrome	Clinodactyly of the 5th finger, Increased mean corpuscular volume, Short stature, Carious teeth, ...	ORPHA:2760
Genitopatellar Syndrome	Knee flexion contracture, Delayed eruption of teeth, Hypoplastic ilia, Hypoplastic ischia, Short ...	ORPHA:85201
Andersen-Tawil Syndrome	Clinodactyly of the 5th toe, Abnormality of dental color, Dental crowding, Oligodontia, 2-3 toe s...	ORPHA:37553
Pseudohypoparathyroidism Type 1C	Short 4th metacarpal, Short metatarsal, Delayed eruption of teeth, Increased bone mineral density...	ORPHA:79444
Mandibuloacral Dysplasia	Postnatal growth retardation, Abnormal tongue morphology, Dental crowding, Short clavicles, Osteo...	ORPHA:2457
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Joint contracture of the 5th finger, Scoliosis, Kyphosis, Short stature, Camptodactyly of finger,...	ORPHA:1883
Polymyositis	Arthritis, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis	ORPHA:732
Idiopathic Bronchiectasis	Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Clubbing, Re...	ORPHA:60033
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Postnatal growth retardation, Epiphyseal dysplasia, Delayed skeletal maturation, Meta...	OMIM:614732
Menkes Disease	Wormian bones, Metaphyseal spurs, Osteoporosis, Short stature, Metaphyseal widening, Joint hyperm...	OMIM:309400
Mucopolysaccharidosis, Type Ii	Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Tracheobronchomalacia,...	OMIM:309900
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the hand, Clinodactyly of the 5th finger, Dental crowding, Eruption failure, 2-3 t...	ORPHA:476126
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly	OMIM:228250
Riddle Syndrome	Abnormal pulmonary interstitial morphology, Bronchitis, Arthritis, Decreased circulating IgG leve...	ORPHA:420741
20P13 Microdeletion Syndrome	Polydactyly, Finger syndactyly, Wide anterior fontanel, Decreased body weight, Tented upper lip v...	ORPHA:313781
X-Linked Intellectual Disability, Snyder Type	Kyphoscoliosis, Thick lower lip vermilion, Short philtrum, Dental crowding, Mandibular prognathia...	ORPHA:3063
Den Hoed-De Boer-Voisin Syndrome	Amelogenesis imperfecta, Widely spaced teeth, Sandal gap, Delayed eruption of teeth, Yellow-brown...	OMIM:619229
Wrinkly Skin Syndrome	Osteopenia, Postnatal growth retardation, Kyphoscoliosis, Deep palmar crease, Delayed eruption of...	ORPHA:2834
Dyskeratosis Congenita, Autosomal Dominant 1	Interstitial pneumonitis, Bone marrow hypocellularity, Osteoporosis, Pulmonary fibrosis	OMIM:127550
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Prader-Willi Syndrome	Osteopenia, Periodontitis, Scoliosis, Abnormality of the dentition, Osteoporosis, Short stature, ...	ORPHA:739
Aneurysm-Osteoarthritis Syndrome	Retrognathia, Osteochondritis dissecans, Intervertebral disk degeneration, Knee osteoarthritis, S...	ORPHA:284984
Diffuse Alveolar Hemorrhage	Irregular septal thickening on pulmonary HRCT, Pulmonary fibrosis	ORPHA:90060
Singleton-Merten Syndrome 1	Eruption failure, Short dental root, Expanded phalanges with widened medullary cavities, Coxa val...	OMIM:182250
Garg-Mishra Progeroid Syndrome	Postnatal growth retardation, Slender long bone, Dental crowding, Short stature, Persistent open ...	OMIM:620601
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Unicoronal sy...	OMIM:616300
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology	OMIM:614886
Intermediate Nemaline Myopathy	High, narrow palate, Multiple prenatal fractures, Flexion contracture, Long philtrum, Arthrogrypo...	ORPHA:171433
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Short stature, Micrognathia, Natal tooth, Sagittal craniosynostosis	OMIM:616901
Traboulsi Syndrome	Retrognathia, Short finger, Cubitus valgus, High palate, Arachnodactyly, Bifid uvula, Broad hallu...	OMIM:601552
Lowe Oculocerebrorenal Syndrome	Rickets, Postnatal growth retardation, Wrist swelling, Genu valgum, Platyspondyly, Pathologic fra...	OMIM:309000
Carpenter Syndrome 2	Retrognathia, Broad thumb, Long philtrum, Craniosynostosis, Narrow palate, Camptodactyly, Carious...	OMIM:614976
Atelosteogenesis Type Iii	Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Laryngotra...	ORPHA:56305
Focal Dermal Hypoplasia	Short metacarpal, Split foot, Joint hypermobility, Midclavicular hypoplasia, Short finger, Short ...	OMIM:305600
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Anemia, Abnormality of the medullary cavity of the long bones, Th...	OMIM:127000
Alkaptonuria	Amyloidosis, Reduced bone mineral density, Arthritis, Joint stiffness, Calcification of cartilage...	ORPHA:56
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Arachnodactyly, Emphysema, Hip dislocation	OMIM:614100
Porphyria, Congenital Erythropoietic	Osteopenia, Erythrodontia, Vertebral compression fracture, Short stature, Thrombocytopenia, Splen...	OMIM:263700
Atelosteogenesis, Type I	Disproportionate short-limb short stature, Clubbing, Tibial bowing, Short metacarpal, Short humer...	OMIM:108720
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Pleural effusion, Impaired oxidative burst, Pulmonary fibrosis	OMIM:618935
Oculodentodigital Dysplasia	Abnormal metaphysis morphology, Cranial hyperostosis, Abnormal cortical bone morphology, Clinodac...	ORPHA:2710
Smith-Kingsmore Syndrome	Large for gestational age, Short proximal phalanx of finger, Rhizomelia, Deep palmar crease, Wide...	OMIM:616638
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly	OMIM:258865
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Cheilitis, Dental crowding, Everted lower lip vermilion, Kyphosis, Tooth agenesi...	ORPHA:534
Peroxisome Biogenesis Disorder 3A (Zellweger)	Wide anterior fontanel, Epiphyseal stippling	OMIM:614859
Chromosome 10Q26 Deletion Syndrome	Limited elbow extension, Postnatal growth retardation, 2-3 toe cutaneous syndactyly, Radial devia...	OMIM:609625
Femoral-Facial Syndrome	Abnormal fibula morphology, Long penis, Abnormal pelvic girdle bone morphology, Coxa vara, Aplasi...	ORPHA:1988
Van Der Woude Syndrome 2	Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit	OMIM:606713
Kleefstra Syndrome Due To A Point Mutation	Large for gestational age, Thick lower lip vermilion, Tracheomalacia, Overgrowth, Abnormality of ...	ORPHA:261652
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Short stature, Short middle phalanx...	OMIM:309620
Acys Amyloidosis	Amyloidosis, Cerebral amyloid angiopathy	ORPHA:100008
Beaulieu-Boycott-Innes Syndrome	Carious teeth, Velopharyngeal insufficiency, Micrognathia, Dental malocclusion	OMIM:613680
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Flared metaphysis, Increased bone mineral density, Coarse metaphyseal trabecularization, Hip dysp...	OMIM:620558
Emanuel Syndrome	Kyphoscoliosis, Broad jaw, Tooth malposition, Delayed eruption of teeth, Dental crowding, Scolios...	ORPHA:96170
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Flared metaphysis, Wide anterior fontanel, Mesomelic/rhizomelic limb...	ORPHA:2347
Potocki-Shaffer syndrome	Delayed cranial suture closure	DECIPHER:34
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Kyph...	ORPHA:508533
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Large fontanelles, Osteolytic defects of the phalanges of the hand, Arthritis, Arthro...	OMIM:259100
Multiple Myeloma	Osteopenia, Anemia, Increased circulating IgG level, Bone pain, Increased circulating IgA level, ...	ORPHA:29073
Six2-Related Frontonasal Dysplasia	Absent/hypoplastic paranasal sinuses, Small for gestational age, Wide anterior fontanel, Short st...	ORPHA:488437
4H Leukodystrophy	Delayed puberty, Delayed eruption of teeth, Abnormality of the dentition, Short stature, Hypodontia	ORPHA:289494
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Narrow palate, Supernumerary tooth, Failure to thrive, Broad distal phalanx of finger, Obesity, A...	ORPHA:353281
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed puberty, Short philtrum, Delayed eruption of teeth, High palate, Everted lower lip vermil...	OMIM:615866
Trisomy 9P	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Dental crowding, Non-...	ORPHA:236
Barber-Say Syndrome	Thin vermilion border, Widely spaced teeth, Clinodactyly of the 5th finger, Delayed eruption of t...	OMIM:209885
Reactive Arthritis	Arthritis, Joint stiffness, Enthesitis, Abnormal pleura morphology, Pulmonary fibrosis, Cartilage...	ORPHA:29207
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Delayed puberty, Anemia, Periodontitis, Oral ulcer, Chronic neutropenia, Gingivitis, ...	ORPHA:79259
Kleefstra Syndrome 1	Talipes equinovarus, Tracheobronchomalacia, Mandibular prognathia, Single transverse palmar creas...	OMIM:610253
Satoyoshi Syndrome	Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal hip bone morphology, Hypoplas...	ORPHA:3130
Congenital Disorder Of Glycosylation, Type Iia	Osteopenia, Retrognathia, Thin vermilion border, Postnatal growth retardation, Proximal placement...	OMIM:212066
Hermansky-Pudlak Syndrome 4	Pulmonary fibrosis	OMIM:614073
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S...	OMIM:617925
Mesomelia-Synostoses Syndrome	Carpometacarpal synostosis, Abnormal vertebral morphology, Short metatarsal, Mesomelic short stat...	OMIM:600383
Potocki-Shaffer Syndrome	Short philtrum, Single transverse palmar crease, 2-5 finger cutaneous syndactyly, Downturned corn...	OMIM:601224
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture	OMIM:616867
Amyloidosis, Finnish Type	Cardiac amyloidosis, Renal glomerular amyloid deposition, Generalized amyloid deposition	OMIM:105120
Noonan Syndrome 1	Postnatal growth retardation, Kyphoscoliosis, High, narrow palate, Juvenile myelomonocytic leukem...	OMIM:163950
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Postnatal growth retardation, Delayed cranial suture closure, Wormian bones, Joint hy...	OMIM:616603
Pseudohypoparathyroidism Type 1A	Short 4th metacarpal, Reduced bone mineral density, Short metatarsal, Delayed eruption of teeth, ...	ORPHA:79443
Tetrasomy 5P	Postnatal growth retardation, Clinodactyly of the 5th finger, Short hallux, Wide anterior fontane...	ORPHA:3309
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho...	OMIM:613091
Opitz-Kaveggia Syndrome	Radial deviation of finger, Dental crowding, Prominent fingertip pads, Broad thumb, Wide mouth, S...	OMIM:305450
Incontinentia Pigmenti	Orofacial cleft, Spina bifida occulta, Delayed eruption of teeth, Finger syndactyly, Abnormal den...	ORPHA:464
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Postnatal growth retardation, Irregular epiphyses, Hip osteoarthritis, Platyspondyly, Hypoplastic...	OMIM:313400
Idiopathic Congenital Hypothyroidism	Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, Large posterior...	ORPHA:95717
Interstitial Pneumonitis, Desquamative, Familial	Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Type II pneu...	OMIM:263000
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Microdontia, ...	OMIM:266920
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Broad metacarpals, Broad metatarsal, Joint stiffness, Brachydactyly,...	OMIM:277600
Interstitial Lung And Liver Disease	Clubbing, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid accumulation, Pu...	OMIM:615486
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
2Q31.1 Microdeletion Syndrome	Sandal gap, Everted lower lip vermilion, Kyphosis, Delayed skeletal maturation, Long philtrum, Ab...	ORPHA:251014
Systemic Sclerosis	Abnormal pulmonary interstitial morphology, Osteolytic defects of the phalanges of the hand, Arth...	ORPHA:90291
Omodysplasia 2	Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Hypospadias,...	OMIM:164745
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Peripheral Dysostosis	Short phalanx of finger, Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Spondyloocular Syndrome	Osteopenia, Femur fracture, Arachnodactyly, Long fingers, Overlapping toe, Long toe, Thin bony co...	OMIM:605822
Holoprosencephaly 9	Agenesis of incisor, Thick lower lip vermilion, Solitary median maxillary central incisor, Short ...	OMIM:610829
8P Inverted Duplication/Deletion Syndrome	Retrognathia, High, narrow palate, Clinodactyly of the 5th finger, Scoliosis, Everted lower lip v...	ORPHA:96092
Monosomy 9Q22.3	Polydactyly, Orofacial cleft, Tall stature, Large for gestational age, Palmar pits, Odontogenic k...	ORPHA:77301
Amelo-Onycho-Hypohidrotic Syndrome	Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A...	ORPHA:1028
Immunodeficiency 13	Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Recurrent upper respiratory tract infec...	OMIM:615518
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Tall stature, Short greater sciatic notch, Overgrowth, Flared iliac...	OMIM:312870
Acrofrontofacionasal Dysostosis 2	Wide anterior fontanel, High palate, Broad thumb, Short stature, Hand polydactyly, Broad hallux, ...	OMIM:239710
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Widened distal phalanges, Broad distal phalanx of finger, Dental crowding, Broad thumb, Syndactyl...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Widened distal phalanges, Broad distal phalanx of finger, Dental crowding, Broad thumb, Syndactyl...	ORPHA:353277
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Anterior open-bite malocclusion, Thrombocytopenia, Leukocytosis	ORPHA:83601
Mandibuloacral Dysplasia With Type A Lipodystrophy	Large fontanelles, Wormian bones, Osteolytic defects of the distal phalanges of the hand, High pa...	ORPHA:90153
Emanuel Syndrome	Broad jaw, Dental crowding, Scoliosis, High palate, Kyphosis, Congenital hip dislocation, Failure...	OMIM:609029
Menkes Disease	Abnormal metaphysis morphology, Abnormal palate morphology, Tarsal synostosis, Chondrocalcinosis,...	ORPHA:565
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Cranial hyperostosis, Oligodontia, Short stature, Natal tooth, Hypodontia	OMIM:601345
Cartilage-Hair Hypoplasia	Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Disproportio...	ORPHA:175
Autoimmune Hypoparathyroidism	Increased bone mineral density	ORPHA:36913
Apert Syndrome	Narrow palate, Large fontanelles, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Fin...	ORPHA:87
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Perianal abscess, Broad finger, Upturned corners of mouth, Short phalanx of finger, Clinodactyly,...	OMIM:614684
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Oligodontia, Short stature, Growth delay, Natal tooth, Hypodontia, Hip...	OMIM:614381
Glass Syndrome	Anterior tibial bowing, Conical tooth, Dental crowding, Oligodontia, Gingival overgrowth, High pa...	OMIM:612313
Cockayne Syndrome Type 2	Hypoplasia of the primary teeth, Mandibular prognathia, Scoliosis, Kyphosis, Enamel hypoplasia, F...	ORPHA:90322
Myelofibrosis	Hemophagocytosis, Myeloproliferative disorder, Myelofibrosis, Splenomegaly, Extramedullary hemato...	OMIM:254450
H Syndrome	Recurrent fractures, Camptodactyly, Delayed skeletal maturation, Hepatosplenomegaly, Hallux valgu...	ORPHA:168569
Fibrochondrogenesis	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal form of the vertebral bod...	ORPHA:2021
Desmosterolosis	Rhizomelia, Gingival fibromatosis, Bilateral talipes equinovarus, Failure to thrive, Micrognathia...	OMIM:602398
Wilson Disease	Abnormality of the hand, Anemia, Bone pain, Arthritis, Increased body weight, Failure to thrive, ...	ORPHA:905
Meier-Gorlin Syndrome 7	Bowing of the legs, Dislocated radial head, Aplasia/Hypoplasia of the patella, 2-3 toe syndactyly...	OMIM:617063
Chondrodysplasia Punctata 2, X-Linked Dominant	Postnatal growth retardation, Kyphoscoliosis, Rhizomelia, Epiphyseal stippling, Scoliosis, Hemive...	OMIM:302960
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Genu valgum, Dental crowding, Scoliosis, High palate, Osteoporosis, Kyphosis, Joint stiffness, Ar...	ORPHA:394
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Panhypogammaglobulinemia, Recurrent aspiration pneumonia, Pulmonary fibrosis, Recurrent respirato...	ORPHA:79124
Ectodermal Dysplasia/Short Stature Syndrome	Palmoplantar keratoderma, Delayed eruption of teeth, Short stature, Enamel hypoplasia, Hypodontia	OMIM:616029
Roberts Syndrome	Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,...	ORPHA:3103
Hermansky-Pudlak Syndrome 2	Impaired ADP-induced platelet aggregation, Recurrent pneumonia, Pulmonary fibrosis, Acetabular dy...	OMIM:608233
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu...	OMIM:274000
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl...	OMIM:610713
Chromosome 2Q37 Deletion Syndrome	Type E brachydactyly, Short metacarpal, Short fourth metatarsal, Short stature, Short phalanx of ...	OMIM:600430
Brachytelephalangic Chondrodysplasia Punctata	Postnatal growth retardation, Butterfly vertebrae, Epiphyseal stippling of toe phalanges, Epiphys...	ORPHA:79345
Kleefstra Syndrome	Advanced eruption of teeth, Delayed eruption of teeth, Tracheomalacia, Mandibular prognathia, Exa...	ORPHA:261494
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone...	OMIM:250220
Trichothiodystrophy	Osteopenia, Retrognathia, High, narrow palate, Anemia, Joint dislocation, Increased mean corpuscu...	ORPHA:33364
Epidermolysis Bullosa, Lethal Acantholytic	Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Natal tooth, Synd...	OMIM:609638
Surfactant Metabolism Dysfunction, Pulmonary, 1	Intraalveolar phospholipid accumulation, Clubbing, Interlobular septal thickening, Absent broncho...	OMIM:265120
3Mc Syndrome 1	Postnatal growth retardation, Caudal appendage, Lambdoidal craniosynostosis, Clinodactyly of the ...	OMIM:257920
9Q21.13 Microdeletion Syndrome	Polydactyly, Postnatal growth retardation, Abnormal tongue morphology, Scoliosis, Vertebral segme...	ORPHA:531151
Baller-Gerold Syndrome	Limited elbow movement, Carpal bone aplasia, Oligodactyly, Severe intrauterine growth retardation...	OMIM:218600
Satoyoshi Syndrome	Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Short metacarpal,...	OMIM:600705
Gapo Syndrome	High, narrow palate, Thick lower lip vermilion, Wide anterior fontanel, Eruption failure, Scolios...	OMIM:230740
Gaucher Disease	Osteopenia, Abnormal pulmonary interstitial morphology, Increased circulating antibody level, Inc...	ORPHA:355
Keppen-Lubinsky Syndrome	Postnatal growth retardation, Short philtrum, Gingival overgrowth, Scoliosis, High palate, Failur...	ORPHA:435628
Acrocallosal Syndrome	Wide anterior fontanel, Tall stature, Triphalangeal thumb, Postaxial hand polydactyly	ORPHA:36
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones...	ORPHA:2634
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Cleft hard palate, Anemia, Broad distal phalanx of finger, Clinodactyly of the 5th finger, Delaye...	OMIM:300990
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos...	ORPHA:217563
Anti-Glomerular Basement Membrane Disease	Arthritis, Anemia, Persistence of primary teeth	ORPHA:375
Martin-Probst Syndrome	Thick lower lip vermilion, Pancytopenia, Short stature, Micrognathia, Wide mouth, Malar flattenin...	OMIM:300519
Lateral Meningocele Syndrome	High, narrow palate, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Dental cro...	ORPHA:2789
Lateral Meningocele Syndrome	Dental crowding, Scoliosis, Wormian bones, High palate, Kyphosis, Short stature, Biconcave verteb...	OMIM:130720
Craniotubular Dysplasia, Ikegawa Type	Diaphyseal dysplasia, Broad ischia, Broad femoral neck, Short palm, Metaphyseal dysplasia, Sclero...	OMIM:619727
Developmental And Epileptic Encephalopathy 41	Kyphoscoliosis, Flexion contracture, Delayed eruption of teeth	OMIM:617105
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, Delayed eruption of teeth, B lymphocytopenia, Gingival overgrowth, Reticulocytopenia, Sho...	ORPHA:508542
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Aplasia/Hypoplasia of metatarsal bones, Disproportionate short-limb short stature, Flared metaphy...	ORPHA:2502
Craniosynostosis With Fibular Aplasia	Fibular aplasia, Cryptorchidism, Craniosynostosis	OMIM:218550
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Advanced eruption of teeth, Mandibular prognathia, High palate, Short stature, Small for gestatio...	OMIM:262190
Trichothiodystrophy 3, Photosensitive	Eclabion, Carious teeth, Short stature, Natal tooth, Failure to thrive, Lymphopenia, Intrauterine...	OMIM:616395
Cranioectodermal Dysplasia 3	Widely spaced teeth, Rhizomelia, Sandal gap, 2-3 toe syndactyly, Everted lower lip vermilion, Pos...	OMIM:614099
Familial Dysautonomia	Recurrent fractures, Osteolysis, Avascular necrosis	ORPHA:1764
Schinzel-Giedion Syndrome	Kyphoscoliosis, Retrognathia, Stiff elbow, Broad alveolar ridges, Tibial bowing, Wide mouth, Shor...	ORPHA:798
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Dental crowding, Severe intrauterine growth retardation, Microdontia, Delayed skeletal maturation...	ORPHA:96182
Miller-Dieker Lissencephaly Syndrome	Polydactyly, Clinodactyly of the 5th finger, Deep palmar crease, Delayed eruption of teeth, Singl...	OMIM:247200
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary venous occlusion, Interlobular septal thickening	OMIM:265450
Immunodeficiency 91 And Hyperinflammation	Abnormal pulmonary interstitial morphology, Recurrent lower respiratory tract infections, Pleural...	OMIM:619644
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Reduced bone mineral density, Tarsal sclerosis, Sclerosis of finger phalanx, Shoulder dislocation...	ORPHA:404454
Pallister-Hall Syndrome	Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly, Intrauter...	OMIM:146510
Zellweger Syndrome	Epiphyseal stippling, Wide anterior fontanel, High palate, Short stature, Failure to thrive, Micr...	ORPHA:912
Werner Syndrome	Neoplasm of the oral cavity, Rocker bottom foot, Increased bone mineral density, Osteoporosis, Jo...	ORPHA:902
Familial Papillary Or Follicular Thyroid Carcinoma	Bone pain, Recurrent fractures	ORPHA:319487
Williams Syndrome	Abnormal form of the vertebral bodies, Hyperlordosis, Everted lower lip vermilion, Microdontia, K...	ORPHA:904
Mucopolysaccharidosis Type 3	Reduced bone mineral density, Genu valgum, Craniofacial hyperostosis, Abnormal form of the verteb...	ORPHA:581
Gaucher Disease, Type I	Anemia, Vertebral compression fracture, Pancytopenia, Bone pain, Avascular necrosis, Thrombocytop...	OMIM:230800
Cockayne Syndrome	Postnatal growth retardation, Delayed puberty, Cachexia, Scoliosis, Kyphosis, Congenital contract...	ORPHA:191
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal shoulder morphology, Short metacarpal, Abnormal pelvic girdle bone morphology, Micromeli...	ORPHA:1422
Immunodeficiency 33	Hypodontia, Delayed eruption of teeth, Conical tooth	OMIM:300636
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Joint hypermobility, Joint dislocation, Recurrent fractures, Short stature	OMIM:619120
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Advanced eruption of teeth, Widely spaced teeth, Everted lower lip vermilion, Failure to thrive, ...	OMIM:617865
Lethal Acantholytic Erosive Disorder	Clinodactyly of the 5th finger, 4-5 finger syndactyly, Camptodactyly of toe, Cleft palate, Natal ...	ORPHA:158687
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Postnatal growth retardation, Thin vermilion border, Sandal gap, Single transverse palmar crease,...	OMIM:614800
Endocrine-Cerebroosteodysplasia	Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Talipes equinovarus, Single t...	OMIM:612651
Distal Renal Tubular Acidosis	Rickets, Reduced bone mineral density, Bone pain, Osteomalacia, Hemolytic anemia, Increased susce...	ORPHA:18
Helsmoortel-Van Der Aa Syndrome	Sandal gap, Prominent fingertip pads, Hyperlordosis, Everted lower lip vermilion, Microdontia, Sh...	OMIM:615873
Schinzel-Giedion Midface Retraction Syndrome	Postnatal growth retardation, Short 1st metacarpal, Wide distal femoral metaphysis, Single transv...	OMIM:269150
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Widely spaced teeth, Delayed eruption of teeth, Gingival overgrowth, Scoliosis, Microdontia, Shor...	OMIM:301072
Saethre-Chotzen Syndrome	Narrow palate, Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Absent first metatars...	OMIM:101400
Idiopathic Chronic Eosinophilic Pneumonia	Pleural effusion, Hypersensitivity pneumonitis, Atelectasis, Increased circulating IgE level	ORPHA:2902
Orofaciodigital Syndrome Vi	Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,...	OMIM:277170
Diamond-Blackfan Anemia 1	Retrognathia, Hypoplastic coccygeal vertebrae, Macrocytic anemia, Absent thumb, Hypoplastic sacra...	OMIM:105650
Bronchopulmonary Dysplasia	Emphysema, Atelectasis, Tracheobronchomalacia, Pulmonary sequestration, Abnormal lung morphology	ORPHA:70589
Hennekam Syndrome	Retrognathia, Supernumerary tooth, Short philtrum, Delayed eruption of teeth, Finger syndactyly, ...	ORPHA:2136
Cherubism	Narrow palate, Oligodontia, Jaw swelling, Dental malocclusion, Multiple impacted teeth, Alveolar ...	OMIM:118400
Lissencephaly, X-Linked, 2	Wide anterior fontanel, Long upper lip, High palate, Micrognathia, Long philtrum, Thin upper lip ...	OMIM:300215
Sweeney-Cox Syndrome	Short philtrum, Short clavicles, Wide anterior fontanel, Narrow mouth, High palate, Median cleft ...	OMIM:617746
Pachyonychia Congenita	Advanced eruption of teeth, Palmoplantar keratoderma, Angular cheilitis, Failure to thrive, Natal...	ORPHA:2309
Baraitser-Winter Cerebrofrontofacial Syndrome	Osteochondrosis, Retrognathia, Thin vermilion border, Large fontanelles, Scoliosis, Delayed crani...	ORPHA:2995
Poems Syndrome	Increased circulating antibody level, Metaphyseal sclerosis, Clubbing of fingers, Sclerosis of ha...	ORPHA:2905
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger	OMIM:313350
Weill-Marchesani Syndrome 2	Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the hand, Elbow fl...	OMIM:608328
Acrofacial Dysostosis, Rodríguez Type	Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap...	ORPHA:1788
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Osteoporosis, Increased susceptibility to fractures	ORPHA:189427
Phocomelia, Schinzel Type	Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph...	ORPHA:2879
White-Sutton Syndrome	Thin vermilion border, Short philtrum, Hypoplastic cervical vertebrae, Mandibular prognathia, Wor...	OMIM:616364
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Dislocated radial head, Delayed skeletal maturation, Long philtrum, ...	OMIM:122470
Occipital Horn Syndrome	Large iliac wing, Absent tibia, Kyphosis, Aplasia/hypoplasia of the humerus, Long philtrum, Joint...	ORPHA:198
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Postnatal growth retardation, Retrognathia, Broad finger, Abnormal hand morphology, Short stature...	OMIM:300845
Wild Type Attr Amyloidosis	Pulmonary edema, Abnormal pulmonary interstitial morphology, Pleural effusion, Transthyretin card...	ORPHA:330001
Vascular Malformation, Primary Intraosseous	Gingival bleeding, Hypochromic anemia, Ectopic tooth eruption	OMIM:606893
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Short philtrum, Wormian bones, T lymp...	OMIM:617237
Mend Syndrome	Wide anterior fontanel, 2-3 toe syndactyly, High palate, Kyphosis, Short stature, Asymmetry of th...	ORPHA:401973
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Cog1-Cdg	Osteopenia, Postnatal growth retardation, Kyphoscoliosis, Butterfly vertebrae, Rhizomelia, Talipe...	ORPHA:263508
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Proximal placement of thumb, Tracheomalacia, Wide anterior fontanel, Short palm, Downturned corne...	OMIM:217980
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Rhizomelia, Platyspondyly, Flared metaphysis, Scoliosis, Short long...	ORPHA:85167
Severe Congenital Nemaline Myopathy	Large fontanelles, Multiple prenatal fractures, Flexion contracture, Adducted thumb, Arthrogrypos...	ORPHA:171430
Heart And Brain Malformation Syndrome	High, narrow palate, Thick lower lip vermilion, Wide anterior fontanel, Everted lower lip vermili...	OMIM:616920
Peroxisome Biogenesis Disorder 1A (Zellweger)	Rocker bottom foot, High, narrow palate, Cubitus valgus, Epiphyseal stippling, Single transverse ...	OMIM:214100
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Amelogenesis imperfecta, Hypodontia, Delayed eruption of teeth	OMIM:615905
Grange Syndrome	Decreased body weight, Syndactyly, Brachydactyly, Finger clinodactyly, Recurrent fractures, Incre...	OMIM:602531
Hyperoxaluria, Primary, Type I	Increased bone mineral density, Bone pain, Pathologic fracture	OMIM:259900
Familial Mediterranean Fever	Amyloidosis, Arthritis, Osteoarthritis, Pleuritis	ORPHA:342
Distal Deletion 12Q	Kyphoscoliosis, Proportionate tall stature, Aplasia/Hypoplasia of the middle phalanx of the 3rd f...	ORPHA:96149
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Short femur, Short tibia, Talipes equinovarus	OMIM:620306
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Narrow mouth, High palate, Multiple prenatal fractures, Flexion contracture, Microretrognathia, A...	OMIM:616866
Hypothyroidism, Congenital, Nongoitrous, 4	Severe postnatal growth retardation, Wide anterior fontanel, Macroglossia	OMIM:275100
Mandibuloacral Dysplasia Progeroid Syndrome	Sandal gap, Joint stiffness, Elevated hemoglobin A1c, Long philtrum, Deep palmar crease, Short ph...	OMIM:619127
Restrictive Dermopathy 1	Rocker bottom foot, Kyphoscoliosis, Large fontanelles, Short clavicles, Wide anterior fontanel, T...	OMIM:275210
Cdags Syndrome	Large fontanelles, Lambdoidal craniosynostosis, Short clavicles, Delayed cranial suture closure, ...	OMIM:603116
Acheiropodia	Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,...	ORPHA:931
Johanson-Blizzard Syndrome	Anemia, Delayed eruption of teeth, Oligodontia, Abnormality of the dentition, Microdontia, Short ...	ORPHA:2315
Yunis-Varon Syndrome	Rocker bottom foot, Broad secondary alveolar ridge, Absent sternal ossification, Abnormal finger ...	ORPHA:3472
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o...	OMIM:227270
3Mc Syndrome 2	Postnatal growth retardation, Limited elbow movement, Caudal appendage, Abnormal vertebral morpho...	OMIM:265050
Tenorio Syndrome	Osteopenia, Recurrent aphthous stomatitis, Mandibular prognathia, Scoliosis, Delayed cranial sutu...	OMIM:616260
Loeys-Dietz Syndrome 3	Retrognathia, Arachnodactyly, Bifid uvula, Disproportionate tall stature, Joint hypermobility, Cr...	OMIM:613795
Neonatal Adrenoleukodystrophy	Short stature, Abnormal palate morphology, Wide anterior fontanel, Bilateral single transverse pa...	ORPHA:44
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed puberty, Delayed eruption of teeth, Oligodontia, Short stature, Hypodontia	ORPHA:447896
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Joint subluxation, Hyperextensibility of the finger joints, Scoliosis, Hyperlordosis, Wormian bon...	OMIM:617821
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad...	OMIM:164900
Ogden Syndrome	Postnatal growth retardation, High, narrow palate, Everted upper lip vermilion, Scoliosis, Delaye...	ORPHA:276432
Kallmann Syndrome	Delayed skeletal maturation, Reduced bone mineral density, Recurrent fractures	ORPHA:478
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Supernumerary tooth, Delayed puberty, Agenesis of molar, Bicoronal synostosis, Scolio...	OMIM:619718
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth	OMIM:183300
Lysinuric Protein Intolerance	Anemia, Hemophagocytosis, Osteoporosis, Delayed skeletal maturation, Leukopenia, Splenomegaly, Th...	OMIM:222700
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Delayed puberty, Proximal tibial and fibular fusion, Femoral bowing, Short me...	ORPHA:95699
Hunter-Macdonald Syndrome	Large fontanelles, Clinodactyly of the 5th finger, Cubitus valgus, Short philtrum, 2-3 toe syndac...	OMIM:611962
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Recurrent fractures	ORPHA:97290
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi...	ORPHA:755
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Platyspondyly, Wide anterior fontanel, Tibial bowing, Femoral bowing, Kyphosis, Mesom...	OMIM:616482
Hennekam-Beemer Syndrome	Thick lower lip vermilion, Clinodactyly of the 5th finger, Scoliosis, Delayed cranial suture clos...	ORPHA:2135
Hereditary Sensory And Autonomic Neuropathy Type 1	Pathologic fracture, Limb pain, Osteomyelitis	ORPHA:36386
Brain-Lung-Thyroid Syndrome	Recurrent respiratory infections, Recurrent pneumonia, Abnormal pulmonary interstitial morphology...	ORPHA:209905
Neuropathy, Hereditary Sensory And Autonomic, Type V	Painless fractures due to injury, Osteoarthritis, Septic arthritis, Recurrent fractures, Osteomye...	OMIM:608654
Pitt-Hopkins Syndrome	Postnatal growth retardation, Abnormal palate morphology, Short metatarsal, Short philtrum, Tooth...	ORPHA:2896
Failure Of Tooth Eruption, Primary	Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth	OMIM:125350
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Overgrowth, Bowing of ...	ORPHA:199276
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Postnatal growth retardation, Conical tooth, Co...	OMIM:263750
Primary Ciliary Dyskinesia	Atelectasis, Pulmonary situs ambiguus, Clubbing, Respiratory tract infection, Recurrent sinopulmo...	ORPHA:244
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Retrognathia, Abnormal bone ossification, Metaphyseal enchondromatosis, Metaphyseal irregularity,...	ORPHA:99646
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Pes cavus, Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, ...	ORPHA:168563
Overlap Myositis	Abnormal pulmonary interstitial morphology, Subluxation of the small joints of the hand, Arthriti...	ORPHA:206572
Primary Hyperoxaluria	Bone pain, Rootless teeth, Abnormality of the dentition, Failure to thrive, Generalized osteoscle...	ORPHA:416
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Dubowitz Syndrome	Aplastic anemia, Postnatal growth retardation, Clinodactyly of the 5th finger, Delayed eruption o...	OMIM:223370
Craniosynostosis 6	Spina bifida occulta, Bicoronal synostosis, Right unilambdoid synostosis, Scoliosis, Delayed cran...	OMIM:616602
Trisomy 10P	Thin vermilion border, Retrognathia, Orofacial cleft, Ulnar deviated club hands, Abnormality of t...	ORPHA:171929
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Abnormal pulmonary interstitial morphology	ORPHA:178320
Familial Isolated Hypoparathyroidism	Short stature, Abnormal dental enamel morphology, Delayed eruption of teeth	ORPHA:2238
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth	OMIM:272300
D-Bifunctional Protein Deficiency	Osteopenia, Retrognathia, Large fontanelles, Hammertoe, Delayed cranial suture closure, High pala...	OMIM:261515
Idiopathic Hypereosinophilic Syndrome	Arthritis, Clubbing, Pleural effusion, Myelofibrosis, Swelling of proximal interphalangeal joints...	ORPHA:3260
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ...	OMIM:119800
Peters-Plus Syndrome	Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Disproportionate short-l...	OMIM:261540
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
Classic Pantothenate Kinase-Associated Neurodegeneration	Increased susceptibility to fractures	ORPHA:216866
Catel-Manzke Syndrome	Glossoptosis, Short metacarpal, Ulnar deviation of the 2nd finger, Bifid uvula, Short humerus, Jo...	OMIM:616145
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Shor...	OMIM:263520
Gigantiform Cementoma, Familial	Multiple impacted teeth, Cementoma, Tooth malposition	OMIM:137575
46,Xy Sex Reversal 11	Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G...	OMIM:273250
Aymé-Gripp Syndrome	Rocker bottom foot, Postnatal growth retardation, Large fontanelles, Clinodactyly of the 5th fing...	ORPHA:1272
Cerebrotendinous Xanthomatosis	Osteopenia, Abnormality of the hand, Abnormal femur morphology, Abnormal tibia morphology, Premat...	ORPHA:909
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Oligodontia, Exaggerated cup...	ORPHA:364577
Steatocystoma Multiplex	Natal tooth	OMIM:184500
Adnp Syndrome	Polydactyly, Advanced eruption of teeth, Thick lower lip vermilion, Sandal gap, Single transverse...	ORPHA:404448
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Micrognathia, Delayed cranial suture closure	ORPHA:1129
Nicolaides-Baraitser Syndrome	Broad distal phalanx of finger, Sandal gap, Broad 2nd toe, Everted lower lip vermilion, Short met...	OMIM:601358
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent lower respiratory tract infections, Decreased circulating antibody level, Interstitial ...	OMIM:615952
Cockayne Syndrome Type 1	Postnatal growth retardation, Hypoplasia of the primary teeth, Anemia, Foot joint contracture, Ma...	ORPHA:90321
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Ankle flexion contracture, Micrognathia, Natal tooth, Small anterior fontanelle	OMIM:617802
Hermansky-Pudlak Syndrome 1	Pulmonary fibrosis	OMIM:203300
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Osteopenia, Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Mic...	OMIM:614837
Autoimmune Lymphoproliferative Syndrome	Decreased specific anti-polysaccharide antibody level, Increased circulating antibody level, Incr...	ORPHA:3261
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxilla, Micrognath...	OMIM:616367
Typhoid	Abnormal pulmonary interstitial morphology	ORPHA:99745
Beare-Stevenson Cutis Gyrata Syndrome	Narrow palate, Limited elbow extension, Gingival overgrowth, High palate, Narrow mouth, Bifid uvu...	OMIM:123790
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, HbH hemoglobin, Radial deviation of finger, Kyphosis, Clinodactyly, Coxa valga, S...	OMIM:301040
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Williams-Beuren Syndrome	Osteopenia, Kyphoscoliosis, Thick lower lip vermilion, Clinodactyly of the 5th finger, Hypodontia...	OMIM:194050
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Scoliosis, Delayed cranial suture closure, High palate, Delayed skeletal maturation, Flexion cont...	OMIM:619383
Zimmermann-Laband Syndrome 1	Short philtrum, Delayed eruption of teeth, Gingival fibromatosis, Hyperextensibility of the finge...	OMIM:135500
Lead Poisoning	Abnormal T cell morphology, Cranial hyperostosis, Delayed puberty, Anemia, Delayed eruption of te...	ORPHA:330015
Rabson-Mendenhall Syndrome	Polydactyly, Advanced eruption of teeth, Severe postnatal growth retardation, Dental crowding, Gi...	ORPHA:769
Al Amyloidosis	Renal interstitial amyloid deposits, Abnormal pulmonary interstitial morphology, Increased circul...	ORPHA:85443
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Tooth agenesis, Mes...	ORPHA:818
Primary Fanconi Renotubular Syndrome	Osteomalacia, Hypophosphatemic rickets, Increased susceptibility to fractures, Pulmonary fibrosis	ORPHA:3337
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi...	OMIM:113310
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Postnatal growth retardation, Retrognathia, Single transverse palmar crease, Exaggerated cupid's ...	ORPHA:254528
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Short philtrum, Abnormality of the palmar creases, Mandibular prognathia, Calcaneovalgus deformit...	ORPHA:521445
Alg9-Cdg	Narrow greater sciatic notch, Abnormal bone ossification, Rhizomelia, Flared metaphysis, Hitchhik...	ORPHA:79328
Congenital Syphilis	Periostitis, Osteochondrosis, Anemia, Tibial bowing, High palate, Notched primary central incisor...	ORPHA:499009
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Delayed skeletal maturation, Broad femoral neck, Thickened cortex of long bones, Shor...	ORPHA:488434
Transaldolase Deficiency	Thin vermilion border, Anemia, Short philtrum, Pancytopenia, Small for gestational age, Wide ante...	OMIM:606003
Juvenile Dermatomyositis	Arthritis, Limitation of joint mobility, Pulmonary fibrosis	ORPHA:93672
Peroxisome Biogenesis Disorder 5A (Zellweger)	Large fontanelles, Cubitus valgus, Epiphyseal stippling, Single transverse palmar crease, Wide an...	OMIM:614866
Ayme-Gripp Syndrome	Mandibular prognathia, Delayed cranial suture closure, Narrow mouth, Abnormality of the dentition...	OMIM:601088
Nance-Horan Syndrome	Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incisors, Short phalanx of fing...	OMIM:302350
Opsismodysplasia	Large fontanelles, Rhizomelia, Disproportionate short-limb short stature, Squared iliac bones, Me...	OMIM:258480
Trichodermodysplasia-Dental Alterations Syndrome	Supernumerary tooth, Abnormal hip bone morphology, Delayed eruption of teeth, Scoliosis, Hyperlor...	ORPHA:3353
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a...	ORPHA:958
Congenital Myopathy 21 With Early Respiratory Failure	Lipoid pneumonia	OMIM:620326
Hermansky-Pudlak Syndrome 6	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Recurr...	OMIM:614075
Yunis-Varon Syndrome	Bilateral single transverse palmar creases, Absent sternal ossification, Broad alveolar ridges, F...	OMIM:216340
Wiedemann-Rautenstrauch Syndrome	Hypoplastic facial bones, Short humerus, Long philtrum, Intrauterine growth retardation, Long toe...	OMIM:264090
3Mc Syndrome	Postnatal growth retardation, Orofacial cleft, Caudal appendage, Spina bifida occulta, Scoliosis,...	ORPHA:293843
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Recurrent respiratory infections, Atelectasis, Pulmonary fibrosis	OMIM:618278
Hutchinson-Gilford Progeria Syndrome	Retrognathia, Reduced bone mineral density, Dental crowding, Limitation of movement at ankles, Jo...	ORPHA:740
Aspartylglucosaminuria	Abnormal cortical bone morphology, Arthritis, Joint stiffness, Delayed skeletal maturation, Abnor...	ORPHA:93
Coffin-Siris Syndrome	Postnatal growth retardation, Thick lower lip vermilion, Delayed eruption of teeth, Scoliosis, In...	ORPHA:1465
Ramon Syndrome	Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Scoliosis, Decreased body weight...	OMIM:266270
Cornelia De Lange Syndrome	Delayed puberty, Bilateral single transverse palmar creases, Proximal placement of thumb, Oligoda...	ORPHA:199
Monosomy 22Q13.3	Clinodactyly of the 5th finger, Dental crowding, Accelerated skeletal maturation, Obesity, Large ...	ORPHA:48652
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Broad alveolar ridges, Abnormal finger morpho...	ORPHA:79500
Birt-Hogg-Dubé Syndrome	Pneumothorax, Pulmonary sequestration, Emphysema	ORPHA:122
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Autoamputation of digits, Osteomyelitis leading to amputation due to slow healing fractures, Shor...	OMIM:256810
Neuronal Intestinal Pseudoobstruction	Natal tooth	ORPHA:99811
Short-Rib Thoracic Dysplasia 12	Short finger, Short long bone, Intrauterine growth retardation, Median cleft palate, Hypoplastic ...	OMIM:269860
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
Familial Thyroid Dyshormonogenesis	Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, Large posterior...	ORPHA:95716
Coffin-Siris Syndrome 1	Retrognathia, Sandal gap, Dislocated radial head, Prominent fingertip pads, Microdontia, Kyphosis...	OMIM:135900
Craniosynostosis 4	Retrognathia, Lambdoidal craniosynostosis, Bicoronal synostosis, Coronal craniosynostosis, Malar ...	OMIM:600775
Distal Deletion 15Q	Intrauterine growth retardation, Short distal phalanx of finger, Hip dislocation, Short finger, 2...	ORPHA:1596
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Broad 2nd toe, Everted lower lip vermilion, Wide mouth, Clinodactyly, Short philtrum, Camptodacty...	OMIM:280000
Atypical Werner Syndrome	Neoplasm of the oral cavity, Thin vermilion border, Rocker bottom foot, Reduced bone mineral dens...	ORPHA:79474
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Recurrent bronchitis, Emphysema, Bronchiolitis	OMIM:604571
Tarp Syndrome	Rocker bottom foot, Glossoptosis, Intrauterine growth retardation, Tongue nodules, Clinodactyly, ...	ORPHA:2886
Curry-Jones Syndrome	Unicoronal synostosis, Bicoronal synostosis, Triphalangeal hallux, Wormian bones, Broad thumb, Du...	OMIM:601707
Niemann-Pick Disease, Type C2	Pulmonary fibrosis	OMIM:607625
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu...	ORPHA:90797
Agammaglobulinemia, X-Linked	Recurrent lower respiratory tract infections, Decreased circulating IgE, Decreased circulating Ig...	OMIM:300755
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Widely spaced teeth, Clinodactyly of the 5th finger, Palmoplantar keratoderma, Delayed eruption o...	ORPHA:1071
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Elbow flexion contracture, Split hand, Rudiment...	OMIM:200980
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Severe postnatal growth retardation, Delayed cranial suture closure, Short stature, Failure to th...	OMIM:613038
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent lower respiratory tract infect...	OMIM:620233
Immunodeficiency 97 With Autoinflammation	Decreased circulating antibody level, Decreased circulating IgG level, Recurrent sinopulmonary in...	OMIM:619802
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Accessory spleen, Severe postnatal growth retardation, Delayed cranial suture closure, Hi...	OMIM:620005
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Abnormal pulmonary interstitial morphology, Decreased circulating antibody level, Rhe...	ORPHA:227990
Fontaine Progeroid Syndrome	Retrognathia, Everted lower lip vermilion, Microdontia, Delayed skeletal maturation, Syndactyly, ...	OMIM:612289
Rajab Interstitial Lung Disease With Brain Calcifications 1	Rickets, Osteopenia, Reduced bone mineral density, Anemia, Pancytopenia, Delayed skeletal maturat...	OMIM:613658
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina...	OMIM:277000
Sifrim-Hitz-Weiss Syndrome	Fused cervical vertebrae, Short clavicles, Flat acetabular roof, Short stature, Bifid uvula, Shor...	OMIM:617159
Tibial Hemimelia	Absent tibia	OMIM:275220
Opitz Gbbb Syndrome	Large fontanelles, Tracheomalacia, Hypodontia, Vertebral segmentation defect, High palate, Ankylo...	ORPHA:2745
Toriello-Carey Syndrome	Postnatal growth retardation, Abnormal palate morphology, Wide anterior fontanel, High palate, Sh...	ORPHA:3338
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Aplasia of the distal phalanx of the 5th toe, Everted lower lip vermilion, Long philtrum, Intraut...	OMIM:608670
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Delayed skeletal m...	OMIM:210710
Familial Mediterranean Fever, Autosomal Dominant	Renal amyloidosis, Pleuritis	OMIM:134610
Floating-Harbor Syndrome	Kyphoscoliosis, Dislocated radial head, Short metacarpal, Microdontia, Delayed skeletal maturatio...	ORPHA:2044
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Osteopenia, Pathologic fracture	OMIM:614231
Floating-Harbor Syndrome	Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Micro...	OMIM:136140
Hyperparathyroidism, Neonatal Severe	Anemia, Failure to thrive, Splenomegaly, Metaphyseal irregularity, Recurrent fractures	OMIM:239200
Peroxisome Biogenesis Disorder 11A (Zellweger)	Wide anterior fontanel, Large fontanelles, Failure to thrive	OMIM:614883
Sarcoidosis	Pneumothorax, Emphysema, Chylothorax, Bone cyst, Pleural effusion, Abnormal lung morphology, Abno...	ORPHA:797
Immune-Mediated Necrotizing Myopathy	Abnormal pulmonary interstitial morphology	ORPHA:206569
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ovary, Os...	ORPHA:432
Dyskeratosis Congenita, X-Linked	Bone marrow hypocellularity, Osteoporosis, Pulmonary fibrosis	OMIM:305000
Glycerol Kinase Deficiency	Pathologic fracture, Osteoporosis	OMIM:307030
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ...	ORPHA:1916
Odontomicronychial Dysplasia	Premature loss of primary teeth, Premature eruption of permanent teeth, Carious teeth, Abnormalit...	ORPHA:1811
Cerebrocostomandibular Syndrome	Postnatal growth retardation, Clinodactyly of the 5th finger, Cleft soft palate, Short hard palat...	OMIM:117650
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Craniopharyngioma	Delayed puberty, Postnatal growth retardation, Proportionate short stature, Growth delay, Obesity...	ORPHA:54595
Wiedemann-Rautenstrauch Syndrome	Kyphoscoliosis, Retrognathia, Severe intrauterine growth retardation, Short humerus, Hypoplastic ...	ORPHA:3455
Allergic Bronchopulmonary Aspergillosis	Bronchiectasis, Emphysema	ORPHA:1164
Lysinuric Protein Intolerance	Osteopenia, Anemia, Hemophagocytosis, Increased circulating antibody level, Decreased circulating...	ORPHA:470
Congenital Disorder Of Glycosylation, Type If	Thin vermilion border, Wide anterior fontanel, Failure to thrive, Flexion contracture	OMIM:609180
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Advanced eruption of teeth, Osteolytic defects of the phalanges of the hand, Micrognathia, Acroos...	ORPHA:280365
Acromelic Frontonasal Dysostosis	Patellar hypoplasia, Cryptorchidism, Mesomelic leg shortening, Syndactyly, Preaxial hand polydact...	OMIM:603671
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Wide anterior fontanel, Anemia of inadequate production, Persistence ...	OMIM:613673
Bartsocas-Papas Syndrome 1	Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Absent thumb, Syndactyly, Absent palmar c...	OMIM:263650
Neurofibromatosis Type 1	Osteopenia, Delayed puberty, Tall stature, Genu valgum, Abnormal hip bone morphology, Slender lon...	ORPHA:636
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Abnormal pulmonary interstitial morphology, Decreased circulating antibody level, Rhe...	ORPHA:227982
Aspartylglucosaminuria	Beaking of vertebral bodies, Thick lower lip vermilion, Platyspondyly, Pathologic fracture, Vacuo...	OMIM:208400
Hermansky-Pudlak Syndrome	Pulmonary fibrosis	ORPHA:79430
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Abnormal thumb morphology, Postnatal growth retardation, Radial club hand...	ORPHA:959
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased specific anti-polysaccharide antibody level, Pulmonary interstitial lymphocyte infiltra...	OMIM:606367
Brittle Cornea Syndrome 2	Joint hypermobility, Recurrent fractures	OMIM:614170
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Wide anterior fontanel, Failure to thrive in infancy	OMIM:619064
Meckel Syndrome 14	Talipes, Aplasia of the uterus, Postaxial hand polydactyly, Bowing of the long bones, Postaxial p...	OMIM:619879
Charge Syndrome	Polydactyly, Postnatal growth retardation, Delayed puberty, Abnormal tibia morphology, Clinodacty...	ORPHA:138
Seckel Syndrome 7	Abnormal carpal morphology, Clinodactyly of the 5th finger, Short middle phalanx of the 5th finge...	OMIM:614851
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe...	OMIM:208500
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Overweight, Persistence of hemoglobin F, Persistence of primary teeth	OMIM:619769
Isolated Thyroid-Stimulating Hormone Deficiency	Delayed cranial suture closure, Growth delay, Delayed proximal femoral epiphyseal ossification, D...	ORPHA:90674
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	High, narrow palate, Thick lower lip vermilion, Clinodactyly of the 5th finger, Delayed eruption ...	ORPHA:369950
Renal And Mullerian Duct Hypoplasia	Micrognathia, Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Acute promyelocytic leukemia, Osteoporosis, Delayed skeletal maturation, Thrombocytop...	ORPHA:77293
Blue Rubber Bleb Nevus	Pathologic fracture, Thrombocytopenia, Iron deficiency anemia	OMIM:112200
Exudative Vitreoretinopathy 1	Recurrent fractures	OMIM:133780
Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Pleuritis, Recurrent respiratory infections, Pulmonary fibrosis	ORPHA:900
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Splenic cyst, Wide anterior fontanel, Intrauterine growth retardation, Thoracolumbar ...	OMIM:610199
Ogden Syndrome	Everted upper lip vermilion, Sandal gap, Delayed skeletal maturation, Long philtrum, Intrauterine...	OMIM:300855
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Joint hypermobility, Scoliosis, High palate, Persistence of primary teeth, Eosinophil...	OMIM:147060
Farber Disease	Short finger, Atelectasis, Arthritis, Osteoporosis, Short toe, Flexion contracture, Recurrent upp...	ORPHA:333
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus	OMIM:612964
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Hydrolethalus Syndrome 1	Hypospadias, Abnormal vagina morphology, Upper limb undergrowth, Postaxial hand polydactyly, Dupl...	OMIM:236680
Bosma Arhinia Microphthalmia Syndrome	Dental malocclusion, High palate, Hypoplasia of teeth, Paranasal sinus hypoplasia, Cleft palate, ...	OMIM:603457
Meckel Syndrome, Type 1	Radial deviation of finger, Wide mouth, Splenomegaly, Syndactyly, Intrauterine growth retardation...	OMIM:249000
Immunodeficiency 89 And Autoimmunity	Pleural thickening, Recurrent lower respiratory tract infections, Pulmonary bulla, Increased circ...	OMIM:619632
Fraser Syndrome	Orofacial cleft, Finger syndactyly, Dental crowding, Vertebral segmentation defect, High palate, ...	ORPHA:2052
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Wide anterior fontanel, Scoliosis, High palate, Congenital hip dislocation, Contracture of the pr...	ORPHA:457279
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the...	OMIM:614841
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Fibular hypoplasia, Hip subluxation, Abnormal vertebral morphology, Cervical C2/C3 vertebral fusi...	ORPHA:444077
Estrogen Resistance Syndrome	Osteopenia, Delayed epiphyseal ossification, Enlarged polycystic ovaries, Osteoporosis, Hypoplasi...	ORPHA:785
Ovarian Dysgenesis 2	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:300510
Rhombencephalosynapsis	Polydactyly, Finger syndactyly, Narrow mouth, Short phalanx of finger, Microretrognathia, Complet...	ORPHA:59315
Cousin Syndrome	Ambiguous genitalia, male, Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contract...	OMIM:260660
Hermansky-Pudlak Syndrome 10	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:617050
Restrictive Dermopathy	Osteopenia, Temporomandibular joint ankylosis, Narrow mouth, Decreased skull ossification, Thorac...	ORPHA:1662
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Fibular bowing, Tibial bowing, Femoral bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia o...	ORPHA:85165
Incontinentia Pigmenti	Kyphoscoliosis, Delayed eruption of teeth, Conical tooth, Oligodontia, Hemivertebrae, Leukocytosi...	OMIM:308300
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis	ORPHA:2072
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Dental crowding, Cleft upper lip, Cutaneous finger syndactyly, C...	OMIM:219000
Dermatomyositis	Abnormal pulmonary interstitial morphology, Arthritis, Lung adenocarcinoma, Pulmonary fibrosis, R...	ORPHA:221
Bronchial Neuroendocrine Tumor	Pneumonia, Abnormal pulmonary interstitial morphology	ORPHA:97287
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Pulmonary capillary hemangiomatosis, Clubbing of fingers, Abnormal pulmonary vei...	ORPHA:199241
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia	OMIM:165590
Pallister-Hall Syndrome	Mesoaxial polydactyly, Oligodactyly, Broad thumb, Bifid uvula, Intrauterine growth retardation, P...	ORPHA:672
Parietal Foramina 1	Wormian bones, Cleft upper lip, Cleft palate	OMIM:168500
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:168558
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Palmar hyperlinearity, Cleft palate, Natal tooth, Short philtrum	OMIM:617337
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Micromelia, Short phalanx of finger, Severe short stature, Trapezoidal vertebra...	OMIM:600092
Keutel Syndrome	Emphysema, Premature fusion of phalangeal epiphyses, Short hallux, Epiphyseal stippling, Recurren...	OMIM:245150
T-Cell Immunodeficiency With Thymic Aplasia	Reduced delayed hypersensitivity, Emphysema, Recurrent bronchopulmonary infections, Recurrent pne...	OMIM:242700
Meier-Gorlin Syndrome 1	Joint contracture of the hand, Genu valgum, Emphysema, Clinodactyly of the 5th finger, Slender lo...	OMIM:224690
Perrault Syndrome 4	Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Osteoporosis	OMIM:615300
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:289548
Fusariosis	Lung abscess, Hypersensitivity pneumonitis, Arthritis, Pleural effusion, Bronchiectasis, Pneumoni...	ORPHA:228119
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	High, narrow palate, Short philtrum, Delayed eruption of teeth, Macrodontia, Taurodontia	ORPHA:3214
Pachyonychia Congenita 2	Angular cheilitis, Oral leukoplakia, Natal tooth, Palmoplantar hyperkeratosis, Palmoplantar hyper...	OMIM:167210
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Micrognathia, Hypoplasia of the uterus, Bicornuate uterus, Azoospermia	OMIM:601076
Hereditary Pulmonary Alveolar Proteinosis	Acute infectious pneumonia, Crazy paving pattern	ORPHA:264675
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the...	OMIM:158330
Mpdu1-Cdg	Thin vermilion border, Wide anterior fontanel, Prominent frontal sinuses	ORPHA:79323
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Surfactant Metabolism Dysfunction, Pulmonary, 5	Intraalveolar phospholipid accumulation, Interlobular septal thickening	OMIM:614370
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Single transverse palmar crease, Branchial cyst, Ankyloglossia, Intrauterine growth retardation, ...	OMIM:620186
Familial Partial Lipodystrophy, Dunnigan Type	Advanced eruption of teeth, Splenomegaly	ORPHA:2348
Mowat-Wilson Syndrome	Dental crowding, Everted lower lip vermilion, Delayed skeletal maturation, Bifid uvula, Syndactyl...	ORPHA:2152
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Postnatal growth retardation, Retrognathia, Fused cervical vertebrae, B lymphocytopenia, Single t...	ORPHA:83617
Neuroblastoma	Pathologic fracture, Thrombocytopenia, Bone pain, Anemia	ORPHA:635
Dihydropyrimidine Dehydrogenase Deficiency	Retrognathia, Deep palmar crease, Delayed eruption of teeth, High palate, Micromelia, Epiphyseal ...	ORPHA:1675
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Clubbing, Intraalveolar phospholipid accumulation	ORPHA:747
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal thumb morphology, Large for gestational age, Spina bifida occulta, Chronic neutropenia, ...	ORPHA:500095
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Multiple joint dislocation, Dental crowding, Hyperlordosis, Internally rotated shoulders, Agenesi...	OMIM:619503
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Amelogenesis Imperfecta, Type Ig	Amelogenesis imperfecta, Gingival fibromatosis, Dagger-shaped pulp calcifications, Gingival overg...	OMIM:204690
Meckel Syndrome 12	Rocker bottom foot, Micrognathia, Vaginal atresia, Arthrogryposis multiplex congenita, Hypoplasia...	OMIM:616258
46,Xy Sex Reversal 4	Distal symphalangism, Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadis...	OMIM:154230
Intellectual Developmental Disorder, Autosomal Dominant 54	Widely spaced teeth, Dental crowding, Short stature, Growth delay, Small for gestational age, Del...	OMIM:617799
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Adducted thumb, Large fontanelles, Joint dislocation, Scoliosis, Delayed cranial suture closure, ...	OMIM:601776
Ulbright-Hodes Syndrome	Postnatal growth retardation, Thin vermilion border, Hypoplasia of the radius, Fibular aplasia, L...	ORPHA:3404
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Wide anterior fontanel, Scoliosis, Downturned corners of mouth, Micrognathia, Smooth philtrum, Lo...	OMIM:618548
Acromelic Frontonasal Dysplasia	Patellar hypoplasia, Aplasia/Hypoplasia of the tibia, Cryptorchidism, Preaxial foot polydactyly, ...	ORPHA:1827
Multiple Endocrine Neoplasia Type 1	Reduced bone mineral density, Osteolysis, Increased susceptibility to fractures	ORPHA:652
Familial Cold Autoinflammatory Syndrome 1	Arthritis, Renal amyloidosis	OMIM:120100
Mitochondrial Complex I Deficiency, Nuclear Type 18	Wide anterior fontanel	OMIM:618240
Multiple Endocrine Neoplasia, Type Iia	Cutaneous lichen amyloidosis	OMIM:171400
Genitopatellar Syndrome	Knee flexion contracture, Delayed eruption of teeth, Scoliosis, Inferior pubic ramus hypoplasia, ...	OMIM:606170
Pallister-Killian Syndrome	Kyphoscoliosis, Everted lower lip vermilion, Bifid uvula, Wide mouth, Long philtrum, Alveolar rid...	OMIM:601803
Coffin-Siris Syndrome 12	Hip subluxation, Ridged cranial sutures, Scoliosis, Delayed cranial suture closure, High palate, ...	OMIM:619325
Costello Syndrome	Limited elbow movement, Thick lower lip vermilion, Deep palmar crease, Tracheomalacia, Hyperexten...	OMIM:218040
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Wide anterior fontanel	ORPHA:95715
Arteriosclerosis, Severe Juvenile	Delayed puberty, Anemia, Dysplasia of second lumbar vertebra, Short stature, Short phalanx of fin...	OMIM:208060
Dihydropyrimidinase Deficiency	Growth delay, Short phalanx of finger, Failure to thrive, Talipes equinovarus	OMIM:222748
Muckle-Wells Syndrome	Renal amyloidosis, Clubbing of fingers	OMIM:191900
Meier-Gorlin Syndrome 4	Patellar aplasia, Emphysema, Slender long bone	OMIM:613804
Donnai-Barrow Syndrome	Short sternum, Wide anterior fontanel, Malar flattening	OMIM:222448
Perrault Syndrome 3	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:614129
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Dental crowding, Arachnodactyly, Delayed skeletal maturation, Bifid uvula, Syndactyly, Adducted t...	ORPHA:261537
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Short finger, Pituitary dwarfism, Delayed cranial suture closure, Growth delay, Delayed proximal ...	ORPHA:226307
Ehlers-Danlos Syndrome, Vascular Type	Pneumothorax, Hypermobility of distal interphalangeal joints, Emphysema, Osteolytic defects of th...	OMIM:130050
Netherton Syndrome	Recurrent respiratory infections, Decreased circulating antibody level, Emphysema, Increased circ...	ORPHA:634
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Reduced ...	ORPHA:90796
Brucellosis	Lung abscess, Hip osteoarthritis, Increased circulating IgG level, Bronchitis, Knee osteoarthriti...	ORPHA:1304
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormality of the ovary, Brachydactyly, Abnormal vagina morphology	ORPHA:247768
Multiple Endocrine Neoplasia Type 2	Joint hypermobility, Cutaneous lichen amyloidosis, Neoplasm of the lung	ORPHA:653
Estrogen Resistance	Osteopenia, Polycystic ovaries, Hypoplasia of the uterus	OMIM:615363
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Emphysema, Atelectasis, Sandal gap, Tracheomalacia, Recurrent pneumonia, Pulmonary hy...	OMIM:613177
Autosomal Dominant Cutis Laxa	Osteopenia, Postnatal growth retardation, Genu recurvatum, Scoliosis, Delayed cranial suture clos...	ORPHA:90348
Lacrimoauriculodentodigital Syndrome 1	Microdontia, Bilateral triphalangeal thumbs, Absent radius, Delayed eruption of primary teeth, Hy...	OMIM:149730
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	2-3 toe syndactyly, Scoliosis, High palate, Delayed cranial suture closure, Accelerated skeletal ...	OMIM:618653
Mayer-Rokitansky-Küster-Hauser Syndrome	Endometriosis, Aplasia of the uterus, Ectopic ovary, Vertebral fusion, Hypoplasia of the vagina, ...	ORPHA:3109
Donnai-Barrow Syndrome	Wide anterior fontanel	ORPHA:2143
Barber-Say Syndrome	Failure to thrive, Wide mouth, Delayed eruption of teeth	ORPHA:1231
Primary Sjögren Syndrome	Abnormal pulmonary interstitial morphology, Increased circulating antibody level, Bronchitis, Art...	ORPHA:289390
Branchiooculofacial Syndrome	Postnatal growth retardation, Clinodactyly of the 5th finger, Proximal placement of thumb, Branch...	OMIM:113620
Opitz Gbbb Syndrome	Solitary median maxillary central incisor, Wide anterior fontanel, High palate, Growth delay, Cle...	OMIM:300000
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Autosomal Recessive Cutis Laxa Type 1	Joint subluxation, Pathologic fracture, Joint hypermobility, Intrauterine growth retardation, Hip...	ORPHA:90349
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia...	OMIM:278850
Cutis Laxa, Autosomal Recessive, Type Ia	Emphysema, Arachnodactyly, Joint hypermobility, Recurrent respiratory infections, Peripheral pulm...	OMIM:219100
Specc1L-Related Hypertelorism Syndrome	Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Clinodactyly of the 5th finge...	ORPHA:1519
Orofaciodigital Syndrome Xiv	Supernumerary tooth, Preaxial polydactyly, Aplasia of the epiglottis, Postaxial hand polydactyly,...	OMIM:615948
Muckle-Wells Syndrome	Camptodactyly of finger, Arthritis, Renal amyloidosis	ORPHA:575
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Premature Ovarian Failure 6	Streak ovary, Hypoplasia of the uterus	OMIM:612310
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Dental crowding, Abnormal jaw morphology, Arachnodactyly, Delayed skeletal maturation, Bifid uvul...	ORPHA:261552
Amed Syndrome, Digenic	Hypoplasia of the uterus, Long thumb	OMIM:619151
Cryptococcosis	Pneumonia, Pleural effusion, Osteolysis, Nodular pattern on pulmonary HRCT, Osteomyelitis	ORPHA:1546
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Short ribs, Aplasia of the uterus, Absent external genitalia, Missing ribs...	OMIM:271520
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Oeis Complex	Epispadias, Ambiguous genitalia, male, 11 pairs of ribs, Rectovaginal fistula, Vesicovaginal fist...	OMIM:258040
Lumbar Syndrome	Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl...	ORPHA:83628
Premature Ovarian Failure 18	Hypoplasia of the ovary, Hypoplasia of the uterus	OMIM:619203
Ovarian Dysgenesis 9	Hypoplasia of the ovary, Hypoplasia of the uterus	OMIM:619665
Enamel-Renal Syndrome	Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno...	ORPHA:1031
Hypocomplementemic Urticarial Vasculitis	Pleural effusion, Arthritis, Emphysema	ORPHA:36412
Chromosome 17Q12 Deletion Syndrome	Aplasia of the vagina, Upper limb undergrowth, Aplasia of the uterus, Unicornuate uterus, Short p...	OMIM:614527
Chromosome 1P36 Deletion Syndrome, Distal	Delayed skeletal maturation, Bifid uvula, Long philtrum, Short 5th finger, Delayed closure of the...	OMIM:607872
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Sotos Syndrome	Increased arm span, Ankle flexion contracture, Tall stature, Abnormal vertebral morphology, Crani...	ORPHA:821
Orofaciodigital Syndrome Type 4	Rectovaginal fistula, Finger syndactyly, Monorchism, Perineal fistula, Postaxial hand polydactyly...	ORPHA:2753
Roberts-Sc Phocomelia Syndrome	Radial deviation of finger, Severe intrauterine growth retardation, Wrist flexion contracture, Sh...	OMIM:268300
Inherited Creutzfeldt-Jakob Disease	Amyloidosis of peripheral nerves	ORPHA:282166
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Aplasia/Hypoplasia involving bones of the skull, Craniosynostosis, Bifid uterus, Syndactyly, Unil...	ORPHA:1521
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Bifid scrotum, Broad thumb, Aplasia/Hypoplasia of the 3rd toe, Hypos...	OMIM:107480
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Large fontanelles, Finger syndactyly, Delayed cranial suture closure, Broad thumb, Long philtrum,...	ORPHA:2211
1P36 Deletion Syndrome	Clinodactyly of the 5th finger, Scoliosis, Delayed cranial suture closure, Narrow mouth, Kyphosis...	ORPHA:1606
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Bronchitis, Emphysema	ORPHA:60
Multiple Acyl-Coa Dehydrogenase Deficiency	Wide anterior fontanel, Hyperlordosis, Scapular winging	ORPHA:26791
Hypermobile Ehlers-Danlos Syndrome	High, narrow palate, Abnormality of the wrist, Joint dislocation, Dental crowding, Gingival overg...	ORPHA:285
Meier-Gorlin Syndrome 6	Emphysema, Sandal gap, Tracheobronchomalacia, Short middle phalanx of finger, Patellar aplasia, H...	OMIM:616835
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Clinodactyly of the 5th finger, Aplasia of the vagina, Aplasia of the uterus, Postaxial polydacty...	ORPHA:457284
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Common Variable Immunodeficiency	Emphysema, Recurrent bronchitis, Decreased circulating antibody level, Bronchiectasis, Pneumonia,...	ORPHA:1572
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Aplasia of the uterus, Aplasia of the vagina	OMIM:146255
Knobloch Syndrome 2	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:618458
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Fatigable weakness of skeletal muscles, Abnormal scrota...	ORPHA:284339
Myoectodermal Gonadal Dysgenesis Syndrome	Limited elbow extension, Gonadal dysgenesis, Bifid distal phalanx of toe, Clitoral hypoplasia, Sh...	OMIM:618419
Popliteal Pterygium Syndrome	Bifid scrotum, Cutaneous finger syndactyly, Hypoplasia of the vagina, Small scrotum, Cryptorchidi...	OMIM:119500
Loeys-Dietz Syndrome 4	Pneumothorax, Emphysema, Arachnodactyly, Protrusio acetabuli, Joint hypermobility	OMIM:614816
Linear Skin Defects With Multiple Congenital Anomalies 3	Failure to thrive, Delayed eruption of primary teeth	OMIM:300952
Developmental And Epileptic Encephalopathy 111	Single transverse palmar crease, Wide anterior fontanel	OMIM:620504
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Aplasia of the uterus, Bilateral talipes equinovarus, Micrognathia, Absent th...	OMIM:614083
Cranioectodermal Dysplasia 1	Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Broad toe, Triphalangeal hallux, Shor...	OMIM:218330
Beckwith-Wiedemann Syndrome	Large for gestational age, Tall stature, Large fontanelles, Otosclerosis, Mandibular prognathia, ...	ORPHA:116
Kawasaki Disease	Arthritis, Abnormal pulmonary interstitial morphology, Recurrent pharyngitis	ORPHA:2331
Wolf-Hirschhorn Syndrome	Abnormal sternal ossification, Hypospadias, Short hallux, Aplasia of the uterus, Split hand, Meta...	OMIM:194190
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Rocker bottom foot, Clitoral hypertrophy, Femoral bowing, Bifid scrotum, Arachnodactyly, Ovarian ...	OMIM:201750
Familial Adenomatous Polyposis 1	Supernumerary tooth, Carious teeth, Eruption failure, Odontoma	OMIM:175100
Congenital Tracheomalacia	Pneumothorax, Emphysema, Tracheomalacia, Tracheobronchomalacia, Bronchiectasis, Pulmonary hypopla...	ORPHA:95430
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Premature pubarche, Ambiguous genitalia, Precocious puberty in females, Lon...	ORPHA:90794
Marfan Syndrome	Osteopenia, Limited elbow movement, Reduced bone mineral density, Emphysema, Osteoporosis, Sponta...	ORPHA:558
Neonatal Marfan Syndrome	Emphysema, Arachnodactyly, Long fingers, Flexion contracture, Joint hypermobility, Adducted thumb...	ORPHA:284979
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Tooth malposition, Failure of eruption of permanent teeth, Bifid uvula, Cleft palate, Submucous c...	ORPHA:2250
Townes-Brocks Syndrome 2	Bifid uterus, Hypospadias, Rectovaginal fistula	OMIM:617466
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla...	OMIM:202010
Neu-Laxova Syndrome 1	Rocker bottom foot, Radial deviation of finger, Finger syndactyly, Calcaneovalgus deformity, Camp...	OMIM:256520
Limb-Mammary Syndrome	Clinodactyly of the 5th finger, Oligodactyly, Aplasia of the uterus, Syndactyly, 3-4 finger cutan...	ORPHA:69085
Charge Syndrome	Hypoplasia of the ulna, External genital hypoplasia, Labial hypoplasia, Hypoplastic male external...	OMIM:214800
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Kinsship Syndrome	Polydactyly, Osteopenia, Fibular hypoplasia, Dislocated radial head, Micrognathia, Mesomelia, Pes...	OMIM:619297
Marfan Syndrome	Pneumothorax, Limited elbow extension, Emphysema, Hammertoe, Camptodactyly, Metatarsus adductus, ...	OMIM:154700
Chronic Graft Versus Host Disease	Pneumothorax, Arthritis, Pleural effusion, Flexion contracture, Bronchiectasis, Bronchiolitis obl...	ORPHA:99921
Gardner Syndrome	Supernumerary tooth, Odontoma, Abnormality of the dentition, Multiple unerupted teeth	ORPHA:79665
Multiple Acyl-Coa Dehydrogenase Deficiency	Wide anterior fontanel	OMIM:231680
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia	ORPHA:2237
Fabry Disease	Reduced bone mineral density, Arthritis, Abnormal femur morphology, Emphysema	ORPHA:324
Familial Adenomatous Polyposis	Supernumerary tooth, Eruption failure, Odontoma, Abnormality of the dentition, Abnormal cementum ...	ORPHA:733
Kikuchi-Fujimoto Disease	Abnormal pulmonary interstitial morphology, Pleural effusion	ORPHA:50918
Lymphangioleiomyomatosis	Pneumothorax, Atelectasis, Emphysema, Recurrent respiratory infections, Chylothorax, Pulmonary ly...	ORPHA:538
17Q11 Microdeletion Syndrome	Osteopenia, Diaphyseal dysplasia, Osteoporosis, Osteolysis, Thickened cortex of long bones, Bowin...	ORPHA:97685
Woodhouse-Sakati Syndrome	Osteopenia, Hypoplasia of the uterus, Abnormal spermatogenesis, Hypoplasia of the fallopian tube,...	ORPHA:3464
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Scalp-Ear-Nipple Syndrome	Abnormality of the dentition, Delayed eruption of teeth	ORPHA:2036
Cardiac-Urogenital Syndrome	Penoscrotal hypospadias, Tracheomalacia, 2-3 toe syndactyly, Aplasia of the uterus, Bifid scrotum...	OMIM:618280
Loeys-Dietz Syndrome	Camptodactyly of finger, Arachnodactyly, Micrognathia, Joint hypermobility, Craniosynostosis, Pes...	ORPHA:60030
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:614748
Attrv122I Amyloidosis	Cardiac amyloidosis	ORPHA:85451
Microphthalmia, Syndromic 9	Micrognathia, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601186
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hyperextensible hand joints, Emphysema, Slender long bone, Hyperextensibility at elbow, Secretory...	ORPHA:500150
Nocardiosis	Pneumothorax, Emphysema, Pleuritis, Pleural effusion, Pneumonia, Osteomyelitis	ORPHA:31204
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Emphysema, Bowing of the long bones, Arachnodactyly, Long fingers, Joi...	OMIM:614437
Mowat-Wilson Syndrome	Widely spaced teeth, Delayed eruption of teeth, Tooth malposition, Short stature, Cleft palate, S...	OMIM:235730
Cutis Laxa, Autosomal Dominant 1	Bronchiectasis, Peripheral pulmonary artery stenosis, Emphysema	OMIM:123700
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus	OMIM:309801
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Foot joint contracture, Osteoporosis, Flexion contracture, Renal amyloidosis	ORPHA:79408
Renal Cysts And Diabetes Syndrome	Hypospadias, Bicornuate uterus, Atretic vas deferens, Gout, Epididymal cyst, Hypoplasia of the ut...	OMIM:137920
Woodhouse-Sakati Syndrome	Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr...	OMIM:241080
Okamoto Syndrome	Polydactyly, Talipes, Bifid uterus, Hip dysplasia, Joint hypermobility	ORPHA:2729
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Bifid uterus, Cy...	ORPHA:322
Goodpasture Syndrome	Reticular pattern on pulmonary HRCT, Hemosiderin-laden macrophages in bronchoalveolar fluid, Bloo...	OMIM:233450
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormality of the pulmonary artery, Emphysema	ORPHA:363618
Viss Syndrome	Pneumothorax, Rocker bottom foot, Pulmonary artery aneurysm, Genu valgum, Emphysema, Generalized ...	OMIM:619472
Peters Plus Syndrome	Clinodactyly of the 5th finger, Rhizomelia, Hypospadias, Micromelia, Clitoral hypoplasia, Microgn...	ORPHA:709
Medulloblastoma	Delayed cranial suture closure	ORPHA:616
Denys-Drash Syndrome	Wide anterior fontanel	OMIM:194080
Blepharophimosis, Ptosis, And Epicanthus Inversus	Hypoplasia of the uterus	OMIM:110100
Vascular Ehlers-Danlos Syndrome	Hypospadias, Talipes equinovarus, Uterine rupture, Congenital hip dislocation, Uterine prolapse, ...	ORPHA:286
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Polycystic ovaries, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	ORPHA:572333
Norrie Disease	Uterine rupture, Cryptorchidism	ORPHA:649

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.

Phenotype	Allele	Zygosity	Life Stage
Epididymis - MPATH pathological process term hypoplasia	Ctsk^{tm1b(EUCOMM)Hmgu}	HOM	Early adult
Testis - MPATH pathological process term dysplasia	Ctsk^{tm1b(EUCOMM)Hmgu}	HOM	Early adult
Tibia - MPATH pathological process term osteopetrosis	Ctsk^{tm1b(EUCOMM)Hmgu}	HOM	Early adult
Testis - MPATH pathological process term spermatogenesis defect	Ctsk^{tm1b(EUCOMM)Hmgu}	HOM	Early adult
Femur - MPATH pathological process term osteopetrosis	Ctsk^{tm1b(EUCOMM)Hmgu}	HOM	Early adult

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 Ctsk.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Cardiomyocyte-specific disruption of Cathepsin K protects against doxorubicin-induced cardiotoxicity.	Cell death & disease (June 2018)	Ctsk^{tm1c(EUCOMM)Hmgu} Ctsk^{tm1a(EUCOMM)Hmgu}	PMC5992138

Order Mouse and ES Cells

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
Ctsk^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ctsk^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Ctsk^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Ctsk^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Ctsk MGI:107823

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Pathology and Tissue Collection

Immunophenotyping

Eye Morphology

X-ray

Immunophenotyping

X-ray

X-ray

Histopathology

Eye Morphology

Human diseases caused by Ctsk mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.0 Data