Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

fibroblast growth factor receptor 3
HBGFR,  Fgfr-3,  sam3

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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

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.

Phenotype associated images not available

Human diseases caused by Fgfr3 mutations

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

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

The table below shows human diseases associated to Fgfr3 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Lumbar hyperlordosis, Aplasia/hypoplasia of the extremities, Flared metaphysis, Brachydactyly, Ge... OMIM:146000
Muenke Syndrome
High palate, Cone-shaped epiphyses of the phalanges of the hand, Macrocephaly, Thimble-shaped mid... OMIM:602849
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Small abnormally formed scapulae, Wide-cupped costochondral junctions, ... OMIM:187600
Thanatophoric Dysplasia Type 1
Joint stiffness, Wide anterior fontanel, Kyphosis, Short femur, Femoral bowing, Hypoplastic ilia,... ORPHA:1860
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome
Hearing impairment, Scoliosis, Camptodactyly of finger, Abnormality of lower limb joint ORPHA:85164
Limited hip extension, Bowing of the legs, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Gene... OMIM:100800
Abnormality of femur morphology, Short toe, Micromelia, Brachydactyly, Genu varum, Scoliosis, Abn... ORPHA:429
Depressed nasal bridge, Rhizomelia, Short nasal bridge, Short long bone, Spinal canal stenosis, P... ORPHA:15
Saethre-Chotzen Syndrome
Abnormal antihelix morphology, Cleft palate, Craniosynostosis, Proximal radio-ulnar synostosis, D... ORPHA:794
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Conductive hearing impairment, Convex nasal ridge, Malar flattening, Brachydactyly, Optic atrophy... ORPHA:93262
Thanatophoric Dysplasia, Type Ii
Metaphyseal irregularity, Small abnormally formed scapulae, Wide-cupped costochondral junctions, ... OMIM:187601
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Femoral bowing, Tibial bowing, Fibular bowing, Metaphyseal chondrodysplasia ORPHA:85165
Muenke Syndrome
Carpal synostosis, Plagiocephaly, High, narrow palate, Malar flattening, Coronal craniosynostosis... ORPHA:53271
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Brachycephaly, Brachydactyly, Midface retrusion ORPHA:35099
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Choanal atresia, Midface retrusion, Craniosynostosis OMIM:612247
Thanatophoric Dysplasia Type 2
Kyphosis, Respiratory insufficiency, Platyspondyly, Brachydactyly, Micromelia, Joint hyperflexibi... ORPHA:93274
Cervical Cancer
Abnormality of the cervical spine OMIM:603956
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Wide anterior fontanel, Lumbar hyperlordosis, Sleep apnea, Platyspondyly, Central apnea... OMIM:616482
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Sensorineural hearing impairment, Increased vertebral height, Pectus excavatum, Joint contracture... OMIM:610474
Lacrimoauriculodentodigital Syndrome
Clinodactyly of the 5th finger, Hypoplasia of the radius, Partial duplication of thumb phalanx, 2... OMIM:149730
Lacrimoauriculodentodigital Syndrome
Absent thumb, Hypoplasia of the radius, Micrognathia, Syndactyly, Duplication of thumb phalanx, S... ORPHA:2363
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Bladder Cancer
Nevus, Epidermal

The table below shows human diseases predicted to be associated to Fgfr3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... ORPHA:174
Auditory Neuropathy, Autosomal Dominant 3
Abnormal speech discrimination, Hearing impairment OMIM:619832
Deafness-Oligodontia Syndrome
Sensorineural hearing impairment, Vertigo, Abnormality of the inner ear ORPHA:3230
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Deafness, Autosomal Recessive 84A
Vestibular dysfunction, Hearing impairment OMIM:613391
Deafness, Autosomal Recessive 1B
Vestibular dysfunction, Hearing impairment OMIM:612645
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... OMIM:156500
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Metaphyseal Anadysplasia
Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypoplasia of the radi... ORPHA:1040
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Increased ... OMIM:183849
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Tibial Torsion, Bilateral Medial
Bowing of the legs, Scoliosis, Tibial torsion OMIM:188800
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 4B
Hearing impairment OMIM:614614
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 73
Hearing impairment OMIM:617663
Deafness, Autosomal Dominant 74
Hearing impairment OMIM:618140
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Deafness, Autosomal Recessive 89
Hearing impairment OMIM:613916
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Dominant 56
Hearing impairment OMIM:615629
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Recessive 18B
Hearing impairment OMIM:614945
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... ORPHA:2777
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Kyphosis, Abnormal morphology of ulna, Abnormal h... ORPHA:3344
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
Limited pronation/supination of forearm, Radioulnar synostosis OMIM:179300
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis, Fibular bowing, Lateral femoral bowing, Anterior tibial b... OMIM:112350
Blount Disease
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... ORPHA:2768
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... OMIM:608728
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Deafness, Autosomal Recessive 25
Hearing impairment, Progressive sensorineural hearing impairment OMIM:613285
Atelosteogenesis, Type Iii
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Micrognathia, Tombstone-shap... OMIM:108721
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Joint stiffness, Narrow ... OMIM:608940
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregularity, Tibial bowing,... OMIM:600081
Multiple Epiphyseal Dysplasia Type 4
Short metacarpal, Upper limb undergrowth, Arthralgia of the hip, Abnormal hand morphology, Genu v... ORPHA:93307
Leri-Weill Dyschondrosteosis
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... OMIM:127300
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Micromelia, ... OMIM:250215
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Deafness, Autosomal Dominant 11
Vestibular dysfunction, Vertigo, Bilateral sensorineural hearing impairment OMIM:601317
Deafness, Autosomal Recessive 2
Sensorineural hearing impairment, Vertigo, Vestibular dysfunction OMIM:600060
Acromesomelic Dysplasia 2A
Stillbirth, Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humeru... OMIM:200700
Ring Chromosome 4 Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormality of the upp... ORPHA:1447
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... OMIM:601376
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... OMIM:619598
Metatropic Dysplasia
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the femoral trochante... OMIM:156530
Maxillonasal Dysplasia, Binder Type
Large earlobe, Dental malocclusion, Depressed nasal bridge, Short nose, Short columella OMIM:155050
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Overlapping toe, Malar flattening, Craniosynostosis, Osteopenia, Femoral bowing, Short neck, Plat... OMIM:616723
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment, Abnormal ear morphology OMIM:608565
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Mesomelic leg shortening, Micrognathia, Camptodactyly of finger, Bowing of th... OMIM:249710
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur OMIM:600121
Brachydactyly Type A1
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... ORPHA:93388
Parastremmatic Dwarfism
Kyphosis, Short neck, Scoliosis, Genu valgum, Bowing of the long bones OMIM:168400
Spondyloepiphyseal Dysplasia, Stanescu Type
Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Hypoplastic ilia, Platyspondyly, St... OMIM:616583
Deafness, Autosomal Recessive 84B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614944
Vitamin D-Dependent Rickets, Type 2A
Femoral bowing, Delayed eruption of teeth, Thin bony cortex, Carious teeth, Bulging of the costoc... OMIM:277440
Deafness, Autosomal Recessive 94
Vestibular dysfunction, Bilateral sensorineural hearing impairment OMIM:618434
Scoliosis, Isolated, Susceptibility To, 1
Scoliosis OMIM:181800
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Femoral bowing, Delayed eruption of teeth, Thin bony cortex, Bulging of the costochondral junctio... OMIM:264700
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Vestibular dysfunction OMIM:619500
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment, Vestibular dysfunction OMIM:600974
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Vestibular dysfunction OMIM:618094
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment, Vestibular dysfunction OMIM:617605
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Vestibular dysfunction OMIM:220290
Blount Disease, Infantile
Genu varum, Abnormality of the proximal tibial epiphysis OMIM:188700
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Mesomelic arm shortening, Short humer... OMIM:171480
Deafness, Autosomal Recessive 30
Progressive hearing impairment, Progressive sensorineural hearing impairment OMIM:607101
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Irregular vertebral endplates, Metaphyseal irregularity, Widely-spaced incisors, Slender finger, ... OMIM:601668
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... OMIM:618395
Spondylometaphyseal Dysplasia, Pagnamenta Type
Femoral bowing, Platyspondyly, Thin bony cortex, Thoracic kyphosis, Broad thumb, Rhizomelia, Pes ... OMIM:619638
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Irregular vertebral endplates, Kyphoscoliosis, Squared-off... OMIM:271630
Autosomal Dominant Brachyolmia
Abnormal metaphysis morphology, Kyphoscoliosis, Platyspondyly, Increased vertebral height ORPHA:93304
Vertebral segmentation defect, Kyphoscoliosis, Generalized joint laxity, Osteoarthritis, Platyspo... ORPHA:85198
Blount Disease, Adolescent
Bowing of the legs, Genu varum OMIM:259200
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Short forearm OMIM:127350
Langer Mesomelic Dysplasia
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognat... OMIM:249700
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... ORPHA:1856
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Diastrophic Dysplasia
Cervical kyphosis, Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Hy... OMIM:222600
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... OMIM:600785
Usher Syndrome, Type Ic
Vestibular hypofunction, Congenital sensorineural hearing impairment OMIM:276904
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Flexion c... OMIM:601560
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Metaphyseal ir... OMIM:241530
Symbrachydactyly Of Hands And Feet
Abnormality of the humeroulnar joint, Vertebral segmentation defect, Abnormal morphology of ulna,... ORPHA:1570
Eiken Syndrome
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... ORPHA:79106
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Platyspondyly, Rhizomelia, Short... OMIM:601438
Progressive Pseudorheumatoid Dysplasia
Coxa vara, Joint stiffness, Kyphoscoliosis, Enlarged metacarpophalangeal joints, Joint contractur... OMIM:208230
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Abnormal... ORPHA:2019
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Osteopenia, Cone-sha... ORPHA:457395
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Irregular vertebral endplates, Hip contracture, Advanced ossification of carpal bones, Kyphoscoli... OMIM:618363
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Lateral clavicle hook, Short femur, Undulate r... OMIM:211350
Metaphyseal Dysplasia, Spahr Type
Metaphyseal dysplasia, Metaphyseal sclerosis, Metaphyseal widening, Short lower limbs, Genu valgu... OMIM:250400
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Shox-Related Short Stature
Forearm undergrowth, Tibial bowing, Micrognathia, Scoliosis, Genu valgum, Cubitus valgus, Short f... ORPHA:314795
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Platyspondyly, Short neck, Rh... OMIM:223800
Deafness, Autosomal Dominant 6
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Dominant 20
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:604717
Ulnar Hypoplasia
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... OMIM:191440
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna ORPHA:1118
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Joint stiffness, Tibial bowing, Flexion contracture, Absent ossification of capital femoral epiph... OMIM:245160
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... OMIM:271530
Spondylometaphyseal Dysplasia, Corner Fracture Type
Coxa vara, Metaphyseal irregularity, Scoliosis, Short femoral neck, Genu varum, Hyperconvex verte... OMIM:184255
Deafness, Autosomal Dominant 22
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 79
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Short ribs, Decre... OMIM:617866
Acromesomelic Dysplasia 4
Broad phalanx, Platyspondyly, Broad finger, Genu valgum, Rhizomelia, Sandal gap, Prominent deltoi... OMIM:619636
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Osteogenesis Imperfecta, Type Xiv
Recurrent fractures, Femoral bowing, Osteopenia, Scoliosis, Increased susceptibility to fractures OMIM:615066
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Kyphoscoliosi... ORPHA:93316
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Craniofacial hyperostosis, Abnormal form of the vertebral bodies... ORPHA:1802
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Kyphosis, Dental malocclusion, Abnormality of the dentition, Brac... ORPHA:1858
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... OMIM:617974
Omodysplasia 2
Dislocated radial head, Short 1st metacarpal, Short humerus, Rhizomelic arm shortening, Frontal b... OMIM:164745
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Rhizomelia, Ovoid vertebral bodies, Tho... OMIM:618019
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Dislocation Of The Hip-Dysmorphism Syndrome
Narrow mouth, Malar flattening, Abnormality of fontanelles, Prominence of the premaxilla, Depress... ORPHA:2412
Genu Valgum, St. Helena Familial
Genu valgum OMIM:137370
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... OMIM:184253
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Platyspondyly, Broad femoral neck... OMIM:609324
Osteogenesis Imperfecta, Type Xviii
Recurrent fractures, Thin ribs, Femoral bowing, Micrognathia, Abnormality of the dentition, Bicon... OMIM:617952
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal irregularity, Coxa vara, Metaphyseal cupping, Talipes equinovarus, Thoracic scoliosis... OMIM:616716
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... OMIM:611702
Metaphyseal Anadysplasia 2
Bowing of the legs, Metaphyseal irregularity, Metaphyseal widening, Micromelia, Genu varum, Short... OMIM:613073
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Kyphosis, Dolichocephaly, Brachydactyly, Scoliosis, Abnormal form of... ORPHA:40
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Wide anterior fontanel, Metaphyseal cupping, Femoral bowing, Trident... OMIM:618853
Antley-Bixler Syndrome
Elbow ankylosis, Cleft palate, Craniosynostosis, Femoral bowing, Short nose, Joint stiffness, Lon... ORPHA:83
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Multinucleated giant chondrocytes i... OMIM:108720
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Multiple Epiphyseal Dysplasia, Beighton Type
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Pedal edema, Intervertebral space... ORPHA:166011
Joint stiffness, Macrocephaly, Hypoplastic vertebral bodies, Abnormally ossified vertebrae, Hypop... ORPHA:2746
Mental Retardation Syndrome, Mietens-Weber Type
Forearm undergrowth, Dislocated radial head, Pes planus, Elbow flexion contracture, Absent proxim... OMIM:249600
Usher Syndrome, Type Iia
Congenital sensorineural hearing impairment OMIM:276901
Usher Syndrome, Type Iic
Congenital sensorineural hearing impairment OMIM:605472
Calvarial Doughnut Lesions With Bone Fragility
Recurrent fractures, Femoral bowing, Osteopenia, Platyspondyly, Scoliosis, Osteoporosis OMIM:126550
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Short long bone, Enlarged metaphyses, Platyspondyly, Irregular femoral epiphysis, Genu... OMIM:618728
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Scoliosis, Genu varum, Short lower limbs, Hy... ORPHA:2501
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
Pyle Disease
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... OMIM:265900
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Small cervical vertebral b... OMIM:135100
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Platyspo... OMIM:617719
Rhizomelic Chondrodysplasia Punctata, Type 2
Irregular vertebral endplates, Flexion contracture, Osteopenia, Microcephaly, Short humerus, Micr... OMIM:222765
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Abnorma... ORPHA:1263
Hypocalcemic Vitamin D-Dependent Rickets
Femoral bowing, Delayed eruption of teeth, Thin bony cortex, Subperiosteal bone resorption, Osteo... ORPHA:289157
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphosis, Abnormal bone ossification... ORPHA:2114
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Shortening of all distal phalanges of the fingers, Short 1st metacarpal, ... OMIM:619135
Spondylometaphyseal Dysplasia, Kozlowski Type
Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platyspondyly, Short n... OMIM:184252
Irregular vertebral endplates, Recurrent fractures, Macrocephaly, Hypoplastic vertebral bodies, I... ORPHA:1782
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia
Dolichocephaly, Dislocated radial head, Radioulnar synostosis OMIM:266255
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Platyspondyly, Biconcave vertebral bodies, Short neck, Arthralgia ... ORPHA:93284
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:212850
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... OMIM:609223
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Abnormality of the hand, Short tibia, Syndactyly, Foot oligodac... OMIM:246570
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Bowing of the legs, Kyphoscoliosis, Platyspondyly, Brachydactyly, ... OMIM:612847
Deafness, Autosomal Recessive 63
Congenital sensorineural hearing impairment OMIM:611451
Deafness, Autosomal Recessive 101
Bilateral sensorineural hearing impairment OMIM:615837
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Deafness, Autosomal Recessive 77
Bilateral sensorineural hearing impairment OMIM:613079
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Deafness, Autosomal Dominant 83
Bilateral sensorineural hearing impairment OMIM:619808
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Shortening of all proximal pha... OMIM:271700
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Short neck, Abnormal epiphysis morphology, Generalized bone demineralization, Prem... ORPHA:93352
Osteogenesis Imperfecta, Type Vi
Coxa vara, Beaking of vertebral bodies, Biconcave vertebral bodies, Protrusio acetabuli, Joint la... OMIM:613982
Roussy-Lévy Syndrome
Kyphoscoliosis, Talipes equinovarus, Limb ataxia, Pes cavus, Scoliosis, Genu valgum, Difficulty w... ORPHA:3115
Osteogenesis Imperfecta, Type Viii
Osteopenia, Decreased calvarial ossification, Femoral bowing, Platyspondyly, Femoral retroversion... OMIM:610915
Rubinstein-Taybi Syndrome 2
High palate, Posterior helix pit, Dental malocclusion, Narrow palate, Convex nasal ridge, Retrogn... OMIM:613684
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Kyphoscoliosis, Joint laxity, Thoracolumbar kyphosis OMIM:236660
Geroderma Osteodysplastica
Beaking of vertebral bodies, Recurrent fractures, Abnormal bone ossification, Malar flattening, P... ORPHA:2078
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Dislocated radial head, Beaking of vertebral bodies, Kyphoscoliosis, Talipes equinovarus, Hypopla... ORPHA:93359
Deafness, Autosomal Recessive 119
Sensorineural hearing impairment OMIM:619615
Lumbar hyperlordosis, Aplasia/hypoplasia of the extremities, Flared metaphysis, Brachydactyly, Ge... OMIM:146000
Angioosteohypotrophic Syndrome
Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Thin bo... ORPHA:75508
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose, Microretrognathia, Long philtrum OMIM:218010
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... OMIM:176240
Cranioectodermal Dysplasia
Short distal phalanx of finger, Abnormal dental enamel morphology, Clinodactyly of the 5th finger... ORPHA:1515
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement, Limitation of knee mobility OMIM:276821
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Dolichocephaly, Camptodactyly of fin... ORPHA:2633
Langer Mesomelic Dysplasia
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... ORPHA:2632
Larsen-Like Syndrome
Conductive hearing impairment, Wide anterior fontanel, Macrocephaly, Clinodactyly of the 5th fing... OMIM:608545
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment OMIM:618778
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Dominant 84
Sensorineural hearing impairment OMIM:619810
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment OMIM:618481
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Auriculocondylar Syndrome 2
Cleft at the superior portion of the pinna, Dental malocclusion, Abnormal pinna morphology, Macro... OMIM:614669
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... OMIM:609052
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Abnormality of the third metatarsal bone, Sclerosis of foot bone, Thickened cort... ORPHA:564003
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Narro... OMIM:602557
Muenke Syndrome
High palate, Cone-shaped epiphyses of the phalanges of the hand, Macrocephaly, Thimble-shaped mid... OMIM:602849
Geroderma Osteodysplasticum
Irregular vertebral endplates, Beaking of vertebral bodies, Tibial bowing, Kyphoscoliosis, Recurr... OMIM:231070
Deafness, Autosomal Recessive 37
Sensorineural hearing impairment, Vestibular dysfunction OMIM:607821
Ulna Hypoplasia-Intellectual Disability Syndrome
Joint stiffness, Hypoplasia of the radius, Broad hallux phalanx, Micromelia, Ulnar deviation of f... ORPHA:2249
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Small abnormally formed scapulae, Wide-cupped costochondral junctions, ... OMIM:187600
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Platyspondyly, Arthralgia of the hip, Difficulty walking, Hip subluxation, Dysplasia of the femor... ORPHA:99642
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Short distal phalan... OMIM:210720
Spondylocarpotarsal Synostosis Syndrome
Short neck, Pectus carinatum, Block vertebrae, Vertebral segmentation defect, Epiphyseal dysplasi... OMIM:272460
3M Syndrome
Congenital hip dislocation, Micromelia, Hypoplasia of the ulna, Hypoplastic pelvis, Rocker bottom... ORPHA:2616
Hypophosphatemic Rickets, X-Linked Dominant
Spinal canal stenosis, Metaphyseal irregularity, Hypophosphatemic rickets, Tibial bowing, Bowing ... OMIM:307800
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Osteopenia, Short neck, Platyspondyly, Short nose, Flexion contracture, Short femur... OMIM:616897
Momo Syndrome
High palate, Thick upper lip vermilion, Dental malocclusion, Abnormal bone ossification, Short st... ORPHA:2563
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses OMIM:166740
Bruck Syndrome 2
Talipes equinovarus, Flexion contracture, Femoral bowing, Osteopenia, Platyspondyly, Elbow flexio... OMIM:609220
Arthrogryposis, Distal, Type 6
Sensorineural hearing impairment OMIM:108200
Short sternum, Osteopenia, Platyspondyly, Sclerotic scapulae, Delayed closure of the anterior fon... OMIM:224300
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Kyphoscoliosis, Atlantoaxial abnormality, Broad hallux, Hypermobility of interphalangeal joints, ... ORPHA:3433
Otopalatodigital Syndrome, Type I
Cleft palate, Short 3rd metacarpal, Broad hallux, Short nose, Sandal gap, Delayed closure of the ... OMIM:311300
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Abnormal form of the vertebral b... ORPHA:2831
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydacty... ORPHA:2098
Craniosynostosis 3
Dental malocclusion, Brachydactyly, Sagittal craniosynostosis, Hallux valgus, Left unicoronal syn... OMIM:615314
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Premature osteoarthritis, Limb joint contr... ORPHA:93314
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Micrognathia, Abn... ORPHA:3104
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Thanatophoric Dysplasia Type 1
Joint stiffness, Wide anterior fontanel, Kyphosis, Short femur, Femoral bowing, Hypoplastic ilia,... ORPHA:1860
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... ORPHA:93323
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Tibial bowing, Lumbar hyperlordosis, Abnormal iliac wing morphology, Abnorm... ORPHA:1427
Gnathodiaphyseal Dysplasia
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Scoliosis, Bowing of the long bones, T... ORPHA:53697
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Upper limb phocomelia, Radial club hand, Short humerus, Hypoplasia of the ulna, Abn... ORPHA:2878
Heart-Hand Syndrome Type 2
Joint stiffness, Abnormal morphology of ulna, Abnormality of the humerus, Brachydactyly, Micromel... ORPHA:1350
Intellectual Developmental Disorder, Autosomal Recessive 50
Sensorineural hearing impairment OMIM:616460
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... ORPHA:2639
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Slender finger, Cleft palate, Depressed nasal bridge, Short neck, Platyspondyly, Ani... ORPHA:163649
Kniest Dysplasia
Enlarged joints, Delayed epiphyseal ossification, Tibial bowing, Coxa vara, Hip contracture, Clef... OMIM:156550
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Synostosis of carpal bones, Micromelia, Abnormality of tibia morphol... ORPHA:2634
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Scoliosis, Radioulnar synostosis, Abnormal rib morphology, Abnorm... ORPHA:3268
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis ORPHA:71289
17Q21.31 Microduplication Syndrome
High palate, Clinodactyly of the 5th finger, Malar flattening, Micrognathia, Microcephaly, Abnorm... ORPHA:217340
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Kyphoscoliosis, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... OMIM:600384
Hypophosphatasia, Childhood
Bowing of the legs, Craniosynostosis, Dolichocephaly, Premature loss of primary teeth, Rachitic r... OMIM:241510
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Abnormal mandible co... ORPHA:477781
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Platyspondyly, Micromelia, Sandal gap, Pulmonary hypoplasia, M... OMIM:256050
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal form of the vertebral bodies, Generaliz... ORPHA:2790
Brachymesomelia-Renal Syndrome
Hypoplasia of the radius, Micrognathia, Single transverse palmar crease, Mesomelic arm shortening... OMIM:113470
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Radially deviated wrists, Coxa vara, Reduced arm span, Osteoarthritis, Abnormality of the epiphys... ORPHA:166002
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Hydrocephalus With Associated Malformations
Tibial bowing, Micrognathia, Short lower limbs, Abnormal foot morphology, Lower limb undergrowth OMIM:236640
Osteogenesis Imperfecta, Type Xi
Coxa vara, Kyphoscoliosis, Dentinogenesis imperfecta, Osteopenia, Scoliosis, Biconcave vertebral ... OMIM:610968
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the humerus, Brachyda... ORPHA:1275
Multiple Synostoses Syndrome 1
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Bilateral conductive hearing impair... OMIM:186500
Stuve-Wiedemann Syndrome 1
Enlarged joints, Pursed lips, Femoral bowing, Short neck, Ulnar deviation of finger, Carious teet... OMIM:601559
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Lethal Kniest-Like Dysplasia
Wide anterior fontanel, Macrocephaly, Talipes equinovarus, Abnormal cartilage matrix, Hypoplastic... ORPHA:2347
Brachycephaly, Short toe, Abnormal morphology of ulna, Hypoplasia of the radius, Cone-shaped epip... ORPHA:950
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal pinna morphology, Femoral bowing, Short neck, Micromelia, 11 pairs of ribs, Platyspondyl... OMIM:210710
Lethal Osteosclerotic Bone Dysplasia
Gingival overgrowth, Depressed nasal ridge, Retrognathia, Delayed cranial suture closure, Microce... ORPHA:1832
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Dental malocclusion, Gingival overgrowth, Macrocephaly, Abnormal helix morphology, Narrow palate,... ORPHA:61
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing... OMIM:184460
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Hip dislocation, Kyphoscoliosis, Arthrogryposis multiplex congenita OMIM:212540
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Recurrent fractures, Small abnormally formed scapulae, Tibial... ORPHA:140
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Micrognathia, Short 5th finger, Neonatal death, Hypoplasia of the ulna,... OMIM:227270
Spondyloepiphyseal Dysplasia Congenita
Cleft palate, Abnormally ossified vertebrae, Short neck, Platyspondyly, Upper limb undergrowth, G... ORPHA:94068
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Clinodactyly of the 5th finger, Reduced bone mineral density, Thin vermilion border... ORPHA:2370
Cutis Laxa, Autosomal Recessive, Type Iie
High palate, Clinodactyly of the 5th finger, Lumbar hyperlordosis, Convex nasal ridge, Craniosyno... OMIM:619451
Osteogenesis Imperfecta, Type Xvi
Recurrent fractures, Microretrognathia, Joint hypermobility, Small for gestational age, Osteopeni... OMIM:616229
Atelosteogenesis Type Ii
Broad phalanx, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Genu valgum, Rhizom... ORPHA:56304
Ectodermal Dysplasia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:224800
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Bil... ORPHA:1972
4-5 toe syndactyly, Short columella, Craniosynostosis OMIM:109050
Craniosynostosis-Mental Retardation-Clefting Syndrome
Forearm undergrowth, Convex nasal ridge, Craniosynostosis, Oral cleft, Lower limb undergrowth OMIM:218650
Femoral-Facial Syndrome
Vertebral segmentation defect, Coxa vara, Rib fusion, Aplasia/Hypoplasia of the tibia, Talipes eq... ORPHA:1988
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Fragmented epiphyses, Airway obstruction, Slender finger, Platyspondyly, Genu valgum, Abnormality... ORPHA:93360
Holoprosencephaly, Semilobar, With Craniosynostosis
Short distal phalanx of finger, Hypoplastic vertebral bodies, Coronal craniosynostosis, Coxa valg... OMIM:601370
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Calvarial hyperos... OMIM:114000
Congenital Disorder Of Glycosylation, Type Iik
Epiphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis, Osteoporosis, Joint laxity, Diaphyse... OMIM:614727
Robinow Syndrome, Autosomal Dominant 2
Wide mouth, Macrocephaly, Triangular mouth, Cleft palate, Abnormality of the dentition, Depressed... OMIM:616331
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Cleft palate, Micrognathia, Low-set, posteriorly rotated ears, Short nose, Anteverted nares, Thin... ORPHA:2015
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormal form of the vertebral bodies,... ORPHA:1837
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short ribs, Short humerus, Scoliosis, Short femoral neck, Biconcave vertebral bo... OMIM:610319
Spondyloepiphyseal Dysplasia, Kimberley Type
Genu valgum, Platyspondyly, Flat capital femoral epiphysis, Genu varum OMIM:608361
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Sclerosis of skull base, Short femur, Femoral bowing, Fr... OMIM:602080
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormality of the ankles, Abnormal ilium morphology, Abnormal vertebral morpholog... ORPHA:163665
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome
Hearing impairment, Scoliosis, Camptodactyly of finger, Abnormality of lower limb joint ORPHA:85164
Marshall Syndrome
Macrodontia of permanent maxillary central incisor, Clinodactyly of the 4th finger, Irregular pro... OMIM:154780
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Wide anterior fontanel, Flexion contracture, Arachnodactyly, Femoral bowing, Coronal craniosynost... OMIM:207410
Van Den Ende-Gupta Syndrome
Craniosynostosis, Femoral bowing, Narrow foot, Tapered finger, Glenoid fossa hypoplasia, Long met... OMIM:600920
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Coxa vara, Metaphyseal dysplasia, Macrocephaly, Metaphyseal irregularity, Short ribs, Abnormally ... OMIM:613330
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Limitation of joint mobility, Osteoarthritis, Platyspondyly, Synostosis of carpal bone... ORPHA:93351
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Depressed nasal bridge, Monkey wrench f... OMIM:251450
Richieri Costa-Da Silva Syndrome
Beaking of vertebral bodies, Kyphoscoliosis, Inability to walk, Distal lower limb muscle weakness... ORPHA:3101
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal s... OMIM:144750
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis OMIM:271200
Epiphyseal Dysplasia, Multiple, 1
Irregular vertebral endplates, Epiphyseal dysplasia, Delayed epiphyseal ossification, Joint stiff... OMIM:132400
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Premature loss of teeth, Metaphyseal dysplasia, Thin vermilion border, Flared metaphysis, Platysp... OMIM:156510
Acromesomelic Dysplasia 1
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Thoracolumbar interpediculate ... OMIM:602875
Rhizomelic Chondrodysplasia Punctata, Type 1
Kyphoscoliosis, Flexion contracture, Flared metaphysis, Respiratory insufficiency, Rhizomelia, Co... OMIM:215100
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Talipes equinovarus, Short femur, Hypoplasia of the radius, Short tibia, Sho... OMIM:607143
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Macrocephaly, Hypertelorism, Broad nasal tip, Long philtrum, Tapered finger, Thick nasal alae, Lo... OMIM:618147
Humero-Radio-Ulnar Synostosis
Elbow ankylosis, Radioulnar synostosis, Abnormal thumb morphology, Abnormal metacarpal morphology... ORPHA:3266
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality of fibula ... ORPHA:3035
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Irregular vertebral endplates, Dislocated radial head, Kyphoscoliosis, Flat capital femoral epiph... OMIM:612350
Summitt Syndrome
Plagiocephaly, Clinodactyly of the 5th finger, Depressed nasal ridge, Craniosynostosis, Camptodac... ORPHA:3210
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Thoracic scoliosis, Absent thumb, Hypoplasia of the radius,... OMIM:142900
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Kyphoscoliosis, Massively thickened long bone cortices, Thin calvarium, Brachydactyly, Micromelia... OMIM:122900
Dyggve-Melchior-Clausen Syndrome, X-Linked
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Lumbar hyperlordosis, Hypoplastic ... OMIM:304950
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Aplasia/Hypoplasia of the ulna, Short humerus, Micromelia, Abnormality of the elbow, Postaxial ha... ORPHA:2491
Au-Kline Syndrome
High palate, Overlapping toe, Deep plantar creases, Cleft palate, Postaxial polydactyly, Craniosy... OMIM:616580
Craniodiaphyseal Dysplasia, Autosomal Dominant
Facial diplegia, Thickened ribs, Macrocephaly, Diaphyseal sclerosis, Papilledema, Wide nasal brid... OMIM:122860
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia/Hypoplasia of the fibula, Micrognathia, Aplasia of the proximal phalanges of the hand, Hy... ORPHA:2256
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Metaphyseal ir... OMIM:300554
Epiphyseal Dysplasia, Multiple, 2
Epiphyseal dysplasia, Irregular epiphyses, Flattened epiphysis, Genu varum, Midface retrusion, Fr... OMIM:600204
Sclerosteosis 2
Macrocephaly, Facial palsy, Cutaneous finger syndactyly, Hearing impairment, Mandibular prognathi... OMIM:614305
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Sensorineural hearing impairment, Narrow chest, Short femur, Femoral bowing, Metaphyseal widening... ORPHA:440354
Spastic Paraplegia 20, Autosomal Recessive
Kyphoscoliosis, Flexion contracture, Dysmetria, Ankle clonus, Pes cavus, Brachydactyly, Camptodac... OMIM:275900
Ichthyosis--Cheek--Eyebrow Syndrome
Kyphoscoliosis OMIM:146720
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Plagiocephaly, Clinodactyly of the 5th finger, Hypoplastic verteb... ORPHA:2163
Worster-Drought Syndrome
Sensorineural hearing impairment, Abnormal cranial nerve morphology ORPHA:3465
Cartilage-Hair Hypoplasia
Coxa vara, Metaphyseal dysplasia, Metaphyseal cupping, Lumbar hyperlordosis, Lymphopenia, Narrow ... OMIM:250250
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the toes, Carpal bone malsegmentation, Cone-shaped epiphyses of the phal... OMIM:600593
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Narrow mouth, Cleft palate, Coronal craniosynostosis, Micrognathia, Brachydactyly, Gen... OMIM:614078
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... OMIM:274000
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... OMIM:250460
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... OMIM:164900
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Absent thumb, Craniosynostosis, Absent middle phalanx of 2nd finger, Proximal placement of hallux... OMIM:218530
Flynn-Aird Syndrome
Joint stiffness, Kyphoscoliosis, Increased bone mineral density, Osteoporosis, Increased bone den... OMIM:136300
Cenani-Lenz Syndrome
Hypoplasia of the radius, Synostosis of carpal bones, Micromelia, Short thumb, Radioulnar synosto... ORPHA:3258
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Clinodactyly of the 5th finger, Radial bowing, Limited pronation/supination of forearm, Proximal ... OMIM:605432
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Broad palm, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short foot, Short m... OMIM:611263
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Micromelia, Aplasia/Hypoplasia of the radius, Madelung deformity, Ulnar bowing ORPHA:1765
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Cone-shaped epiphys... ORPHA:1240
Low back pain, Increased bone mineral density OMIM:166450
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Irregular acetabular roof, Genu valgum, Generalized osteoporosis, Vertebral wedgin... ORPHA:1159
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Thin ribs, Short ribs, Femoral bowing, Osteopenia OMIM:618188
Summitt Syndrome
Oxycephaly, Obesity, Syndactyly, Craniosynostosis OMIM:272350
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Distal ulnar epiphyseal stippl... OMIM:609616
Campomelic Dysplasia
Poorly ossified cervical vertebrae, High palate, Cleft palate, Depressed nasal ridge, Femoral bow... OMIM:114290
Van Bogaert-Hozay Syndrome
Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia OMIM:277150
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Tibial bowing, Wide anterior fontanel, Dentinogenesis imperfecta, Micrognath... OMIM:259420
Ulnar/Fibular Ray Defect And Brachydactyly
Bilateral talipes equinovarus, Brachydactyly, Midface retrusion, Frontal bossing, Postaxial oligo... OMIM:608571
Hyperekplexia 4
Kyphoscoliosis, Talipes equinovarus, Flexion contracture, Adducted thumb, Camptodactyly, Distal a... OMIM:618011
Intellectual Developmental Disorder, X-Linked 19
Kyphoscoliosis, Scoliosis OMIM:300844
Symphalangism, Proximal, 1A
Stapes ankylosis, Conductive hearing impairment, Carpal synostosis, Aplasia/Hypoplasia of the mid... OMIM:185800
Spinal Dysplasia, Anhalt Type
Coxa vara, Osteoarthritis of the small joints of the hand, Spinal dysplasia, Thoracolumbar scolio... OMIM:601344
Fibrochondrogenesis 1
Abnormal pinna morphology, Short neck, Platyspondyly, Short nose, Rhizomelia, Dumbbell-shaped lon... OMIM:228520
Bone cyst, Back pain, Osteomyelitis, Structural foot deformity, Abnormal form of the vertebral bo... ORPHA:2583
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot OMIM:314360
High palate, Abnormality of the dentition, Carious teeth, Rhizomelia, Hypoplasia of the maxilla, ... ORPHA:763
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Delayed eruption of teeth, Thin metacarpal cortices, C1-C2 subluxation, Thin bony cor... OMIM:259600
Clark-Baraitser syndrome
Kyphosis, Maxillary lateral incisor microdontia, Genu recurvatum, Prominent median palatal raphe,... OMIM:300602
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Otosclerosis, Kyphosis, Dentinogenesis imperfecta, Femoral bowing present at... OMIM:166220
Stuve-Wiedemann Syndrome 2
Respiratory distress, Scoliosis, Camptodactyly, Thrombocytopenia, Bowing of the long bones, Pulmo... OMIM:619751
Osteoglosphonic Dysplasia
Abnormal bone ossification, Tooth agenesis, Craniosynostosis, Micrognathia, Brachydactyly, Scolio... ORPHA:2645
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... OMIM:128980
Kyphomelic Dysplasia
Joint stiffness, Undulate ribs, Micrognathia, Micromelia, Abnormal form of the vertebral bodies, ... ORPHA:1801
Mesomelic Dysplasia, Kantaputra Type
Mesomelia, Carpal synostosis, Radial bowing, Tarsal synostosis OMIM:156232
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Delayed eruption of teeth, Polyarticular arthritis, Enthesitis, Sclerotic verte... ORPHA:289176
Craniofrontonasal Dysplasia
High palate, Depressed nasal ridge, Craniosynostosis, Abnormality of the dentition, Down-sloping ... ORPHA:1520
Diastrophic Dysplasia
Macrocephaly, Micromelia, Symphalangism affecting the phalanges of the hand, Ulnar deviation of f... ORPHA:628
Chst3-Related Skeletal Dysplasia
Kyphoscoliosis, Flexion contracture, Brachydactyly, Irregular epiphyses, Scoliosis, Abnormal form... ORPHA:263463
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Melanocytic Nevus Syndrome, Congenital
Everted lower lip vermilion, Prominence of the premaxilla, Broad nasal tip, Long philtrum, Deep p... OMIM:137550
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Attached earlobe, Depressed nasal bridge, Short nose, Mandibular prognathia, Midface... ORPHA:1327
Anteverted nares, Short nose, Thin vermilion border OMIM:180360
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Clinodactyly of the 5th finger, Abnormal oral cavity morphology, Craniosynostosis, Dolichocephaly... ORPHA:1516
Codas Syndrome
Metaphyseal dysplasia, Coronal cleft vertebrae, Delayed ossification of carpal bones, Generalized... OMIM:600373
Dentinogenesis Imperfecta, Shields Type Iii
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... OMIM:125500
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... OMIM:271650
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Curved distal p... ORPHA:3152
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Platyspondyly, Micromelia, Short palm, Flared, irregular rib ends, Limitation of joint... ORPHA:168555
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Short tibia, Micrognathia, Abnormalit... OMIM:251230
Maternal Uniparental Disomy Of Chromosome 9
Hamstring contractures, Kyphoscoliosis, Elbow ankylosis, Short neck, Abnormal vertebral morpholog... ORPHA:96183
Odontochondrodysplasia 1
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromel... OMIM:184260
Limited hip extension, Bowing of the legs, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Gene... OMIM:100800
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Greenberg Dysplasia
Macrocephaly, Anterior rib punctate calcifications, Short metacarpal, Horizontal sacrum, Platyspo... OMIM:215140
Non-Distal Trisomy 10Q
High palate, Convex nasal ridge, Everted lower lip vermilion, Micrognathia, Microcephaly, Depress... ORPHA:1695
Achard Syndrome
Arachnodactyly, Micrognathia, Broad skull, Joint laxity, Brachycephaly OMIM:100700
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact... ORPHA:52056
Autosomal Recessive Omodysplasia
Abnormality of femur morphology, Abnormal metaphysis morphology, Craniosynostosis, Micrognathia, ... ORPHA:93329
Greenberg Dysplasia
Abnormal bone ossification, Anterior rib punctate calcifications, Calvarial skull defect, Abnorma... ORPHA:1426
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Upper limb undergrowth, Optic atrophy, Flared, irregular rib ends, Thoracic hypopl... ORPHA:168549
Ivic Syndrome
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... OMIM:147750
Metatropic Dysplasia
Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of the 5th... ORPHA:2635
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Malar flattening, Craniosynostosis, Thin vermilion border, Micrognathia, Depressed nasal bridge, ... ORPHA:171839
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
High palate, Dental malocclusion, Long fingers, Tapered finger, Mandibular prognathia OMIM:618292
Trigonocephaly With Short Stature And Developmental Delay
High palate, Clinodactyly of the 5th finger, Convex nasal ridge, Small for gestational age, Prema... OMIM:314320
Thoracomelic Dysplasia
Short ribs, Hyperlordosis, Abnormality of fibula morphology, Limb undergrowth, Genu valgum, Elbow... ORPHA:1803
Legg-Calvé-Perthes Disease
Abnormality of the dentition, Cartilage destruction, Joint dislocation ORPHA:2380
Charcot-Marie-Tooth Disease Type 4D
Kyphoscoliosis, Inability to walk, Pes cavus, Hammertoe, Skewfoot, Abnormal foot morphology, Unst... ORPHA:99950
Multiple Metaphyseal Dysplasia
Short distal phalanx of finger, Abnormal hip bone morphology, Broad distal phalanx of finger, Bra... ORPHA:93430
Respiratory distress, Cone-shaped epiphysis, Platyspondyly, Micromelia, Scoliosis, Square pelvis ... ORPHA:166272
Winchester Syndrome
Broad metacarpals, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized os... OMIM:277950
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials ORPHA:101007
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Hypertelorism, Retrognathia, Depressed nasal bridge, Short nose, Anteverted nares, L... OMIM:614069
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Broad-based gait, Hip contracture, Kyphosis, Talipes equinovarus, Tip-toe gait, Pes cavus, Hypore... OMIM:615290
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Hypoplasia of the capital femoral epiphysis, Hypoplasia of the ulna, Genu valgum, Rhizomelia, Gen... OMIM:143095
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Prominence of the premaxilla, Microcephaly, Cranial asymmetry, Prominent ... OMIM:614886
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Hypoplasia of the odontoid process, Postaxial polydactyly OMIM:612913
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Vertebral segmentation defect, Abnormal hip bone morphology, Camptodactyly of finger, Abnormal lu... ORPHA:2631
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type