Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
fibroblast growth factor receptor 3
Synonyms:
HBGFR,  Fgfr-3,  sam3

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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
phenotypes
Matching phenotypes Source
Achondroplasia
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... OMIM:100800
Muenke Syndrome
Brachycephaly, Coronal craniosynostosis, High palate, Short middle phalanx of toe, Thimble-shaped... OMIM:602849
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Short ... OMIM:187600
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... ORPHA:1860
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome
Abnormality of lower limb joint, Camptodactyly of finger, Scoliosis, Hearing impairment ORPHA:85164
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Brain abscess, Lumbar hyperlordosis, Rhizomelia, Kyphosis, W... OMIM:616482
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the... ORPHA:429
Hypochondroplasia
Frontal bossing, Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hy... OMIM:146000
Thanatophoric Dysplasia, Type Ii
Frontal bossing, Cloverleaf skull, Small abnormally formed scapulae, Micromelia, Hypoplastic ilia... OMIM:187601
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Brachycephaly, Hypotelorism, Triphalangeal thumb, Clinodactyly of the ... ORPHA:794
Achondroplasia
Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Bowing of the legs, S... ORPHA:15
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Frontal bossing, Turricephaly, Choanal atresia, Hypertelorism, Hypoplasia of the maxilla, Optic a... ORPHA:93262
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Metaphyseal chondrodysplasia, Fibular bowing, Femoral bowing ORPHA:85165
Muenke Syndrome
Tarsal synostosis, High, narrow palate, Brachycephaly, Plagiocephaly, Cone-shaped epiphysis, Shor... ORPHA:53271
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Midface retrusion, Brachycephaly, Brachydactyly ORPHA:35099
Crouzon Syndrome With Acanthosis Nigricans
Choanal atresia, Brachycephaly, Craniosynostosis, Midface retrusion OMIM:612247
Thanatophoric Dysplasia Type 2
Micromelia, Kyphosis, Limitation of joint mobility, Respiratory insufficiency, Joint hyperflexibi... ORPHA:93274
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Arachnodactyly, Pectus excavatum, Increased vertebral height, Sensorineural hearing impairment, S... OMIM:610474
Lacrimoauriculodentodigital Syndrome 2
Duplication of thumb phalanx, Conical tooth, Carious teeth, Abnormal thumb morphology, Hypodontia... OMIM:620192
Lacrimoauriculodentodigital Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... ORPHA:2363
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Cervical Cancer
OMIM:603956
Bladder Cancer
OMIM:109800
Nevus, Epidermal
OMIM:162900

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Auditory Neuropathy, Autosomal Dominant 3
Abnormal speech discrimination, Hearing impairment OMIM:619832
Deafness-Oligodontia Syndrome
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment ORPHA:3230
Deafness, Autosomal Recessive 84A
Abnormal vestibular function, Hearing impairment OMIM:613391
Deafness, Autosomal Recessive 1B
Abnormal vestibular function, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v... OMIM:602111
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormal... ORPHA:1040
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... 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 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
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 Dominant 89
Hearing impairment OMIM:620284
Deafness, Autosomal Dominant 88
Hearing impairment OMIM:620283
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 33
Hearing impairment OMIM:607239
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho... OMIM:112350
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
Radioulnar synostosis, Limited pronation/supination of forearm OMIM:179300
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal s... OMIM:608728
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... OMIM:300106
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Midface retrusion, Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Sh... OMIM:118651
Deafness, Autosomal Dominant 11
Abnormal vestibular function, Vertigo, Bilateral sensorineural hearing impairment OMIM:601317
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w... OMIM:608940
Deafness, Autosomal Recessive 2
Abnormal vestibular function, Vertigo, Sensorineural hearing impairment OMIM:600060
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract... ORPHA:93307
Atelosteogenesis, Type Iii
Frontal bossing, Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical ky... OMIM:108721
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Gnathodiaphyseal Dysplasia
Osteopenia, Broad jaw, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, S... ORPHA:53697
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Spondyloepiphyseal Dysplasia, Stanescu Type
Waddling gait, Stiff neck, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Joint stiffness, Vertebr... OMIM:616583
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Ring Chromosome 4 Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... ORPHA:1447
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... OMIM:200700
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... OMIM:619598
Pyle Disease
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... OMIM:265900
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Dental malocclusion, Large earlobe, Short columella, Short nose OMIM:155050
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... OMIM:156530
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment, Abnormal ear morphology OMIM:608565
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Frontal bossing, Enlargement of the ankles, Flat occiput, Bulging epiphyses, Recurrent fractures,... OMIM:600081
Deafness, Autosomal Recessive 89
Sensorineural hearing impairment, Vestibular hypofunction OMIM:613916
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le... OMIM:249710
Deafness, Autosomal Recessive 84B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 18B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614945
Brachydactyly Type A1
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... ORPHA:93388
Deafness, Autosomal Recessive 94
Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:618434
Deafness, Autosomal Dominant 81
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619500
Deafness, Autosomal Recessive 7
Abnormal vestibular function, Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Dominant 74
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618140
Deafness, Autosomal Recessive 110
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618094
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Dominant 56
Abnormal vestibular function, Sensorineural hearing impairment OMIM:615629
Deafness, Autosomal Recessive 1A
Abnormal vestibular function, Sensorineural hearing impairment OMIM:220290
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling OMIM:600121
Parastremmatic Dwarfism
Bowing of the long bones, Short neck, Kyphosis, Genu valgum, Scoliosis OMIM:168400
Achondroplasia
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... OMIM:100800
Scoliosis, Isolated, Susceptibility To, 1
Scoliosis OMIM:181800
Vitamin D-Dependent Rickets, Type 2A
Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing,... OMIM:277440
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... OMIM:613330
Blount Disease, Infantile
Genu varum, Abnormality of the proximal tibial epiphysis OMIM:188700
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... OMIM:171480
Spondylometaphyseal Dysplasia, Pagnamenta Type
Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short... OMIM:619638
Metaphyseal Dysplasia, Spahr Type
Progressive leg bowing, Metaphyseal dysplasia, Bowing of the legs, Metaphyseal sclerosis, Metaphy... OMIM:250400
Brachyolmia Type 1, Toledo Type
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... OMIM:271630
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Hip dislocation, Thin ribs, Kne... OMIM:618395
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Femoral bowing, Shor... OMIM:616723
Dysspondyloenchondromatosis
Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, Generalized joint laxity, Abnormal fibula m... ORPHA:85198
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Talipes, Ovoid vertebral bodies, Abnormality of the vertebr... ORPHA:1856
Blount Disease, Adolescent
Genu varum, Bowing of the legs OMIM:259200
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Abnormal metaphysis morphology, Kyphoscoliosis ORPHA:93304
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
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle... ORPHA:2790
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... OMIM:249700
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... 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
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... ORPHA:1570
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing,... OMIM:264700
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi... ORPHA:2019
Eiken Syndrome
Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph... ORPHA:79106
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i... ORPHA:457395
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... OMIM:211350
Progressive Pseudorheumatoid Dysplasia
Waddling gait, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyph... OMIM:208230
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Frontal bossing, Enlargement of the ankles, Flat occiput, Bulging epiphyses, Recurrent fractures,... OMIM:241530
Shox-Related Short Stature
Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lo... ORPHA:314795
Deafness, Autosomal Dominant 6
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Dominant 20
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:604717
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... OMIM:223800
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula ORPHA:1118
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, 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, Single transverse palmar crease, Postaxial polydactyly, Micromelia, Missing ribs, ... OMIM:617866
Deafness, Autosomal Dominant 4B
Abnormal vestibular function, Sensorineural hearing impairment OMIM:614614
Deafness, Autosomal Recessive 101
Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:615837
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... OMIM:619636
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Brachyolmia Type 1, Hobaek Type
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... OMIM:271530
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... ORPHA:1802
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Scoliosis OMIM:615066
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Kyphosis, Dental malocclusion... ORPHA:1858
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Waddling gait, Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspon... OMIM:617974
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Spondylometaphyseal Dysplasia, Corner Fracture Type
Waddling gait, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Hyperconvex... OMIM:184255
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Thor... OMIM:618019
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, ... OMIM:620076
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... ORPHA:93405
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Prominence of the premaxilla, Abnormality of fontanelles, Congenital hip... ORPHA:2412
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Abno... OMIM:617952
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Irregularity of vertebral bodies, Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal f... OMIM:609324
Acromesomelic Dysplasia, Maroteaux Type
Frontal bossing, Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Dolichocephaly,... ORPHA:40
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Swan neck-like deformities of the fingers, Recurrent respiratory infections, Thora... OMIM:616716
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Monosomy 5P
Microretrognathia, Finger syndactyly, Recurrent fractures, Short neck, Microcephaly, Small hand, ... ORPHA:281
Antley-Bixler Syndrome
Brachycephaly, Femoral bowing, Elbow ankylosis, Arachnodactyly, Anteverted nares, Abnormal rib mo... ORPHA:83
Anauxetic Dysplasia 3
Short metacarpal, Thoracolumbar kyphoscoliosis, Joint hypermobility, Metaphyseal cupping, Hip sub... OMIM:618853
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypopl... OMIM:108720
Opsismodysplasia
Frontal bossing, Abnormally ossified vertebrae, Flat occiput, Tapered finger, Joint stiffness, Sq... ORPHA:2746
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Flat ac... OMIM:151210
Mental Retardation Syndrome, Mietens-Weber Type
Pes planus, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Dis... OMIM:249600
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip joint morphology... ORPHA:166011
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... OMIM:618728
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyly, Scoliosis OMIM:126550
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol... OMIM:614856
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... ORPHA:1263
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Kyphosis, Abnormal ossification involving the f... ORPHA:2114
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Death in infancy, Micrognathia, Wide anterior fontanel, Ulnar bowing, Sho... OMIM:619135
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Vertebra... OMIM:617719
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Hallux valgus, Pes planus, Osteopenia, Contracture of the proximal interphalangeal joint of the 2... OMIM:130060
Ck Syndrome
Slender build, Hyperlordosis, Micrognathia, Kyphosis, Microcephaly, Retrognathia, Scoliosis, Mala... OMIM:300831
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hypoplastic verte... ORPHA:1782
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... OMIM:112910
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Genu... OMIM:602557
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvis, Narrow greater... OMIM:184252
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... OMIM:311300
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:212850
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia
Radioulnar synostosis, Dolichocephaly, Dislocated radial head OMIM:266255
Deafness, Autosomal Recessive 63
Congenital sensorineural hearing impairment OMIM:611451
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment OMIM:618013
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
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... OMIM:612847
Hypocalcemic Vitamin D-Dependent Rickets
Flat occiput, Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Femoral bowin... ORPHA:289157
Osteogenesis Imperfecta, Type Viii
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... OMIM:610915
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Spondyloepimetaphyseal Dysplasia, Shohat Type
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Deafness, Autosomal Recessive 119
Sensorineural hearing impairment OMIM:619615
Osteogenesis Imperfecta, Type Vi
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Increased susceptib... OMIM:613982
Roussy-Lévy Syndrome
Kyphoscoliosis, Unsteady gait, Limb ataxia, Genu valgum, Gait ataxia, Talipes equinovarus, Scolio... ORPHA:3115
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Geroderma Osteodysplastica
Beaking of vertebral bodies, Pes planus, Mandibular prognathia, Recurrent fractures, Talipes, Ost... ORPHA:2078
Hyperostosis Corticalis Generalisata
Mandibular prognathia, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone m... ORPHA:3416
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Genu valgum, Irreg... OMIM:609223
Larsen-Like Syndrome
Joint laxity, Frontal bossing, Joint dislocation, Hypertelorism, Wide anterior fontanel, Dental m... OMIM:608545
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Joint laxity, Thoracolumbar kyphosis, Kyphoscoliosis OMIM:236660
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short metatarsal, Irregular vertebral endplates, Hypoplas... OMIM:271700
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Tarsa... ORPHA:2633
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 Dominant 73
Sensorineural hearing impairment OMIM:617663
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 Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
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 Recessive 120
Sensorineural hearing impairment OMIM:620238
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, Impaired Intellectual Development, 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
3M Syndrome
Congenital hip dislocation, Micromelia, Increased vertebral height, Clinodactyly of the 5th finge... ORPHA:2616
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... ORPHA:2501
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Muenke Syndrome
Brachycephaly, Coronal craniosynostosis, High palate, Short middle phalanx of toe, Thimble-shaped... OMIM:602849
Cranioectodermal Dysplasia
Frontal bossing, Finger syndactyly, Brachydactyly, Rhizomelia, Anteverted nares, Craniosynostosis... ORPHA:1515
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... ORPHA:75508
Deafness, Autosomal Recessive 37
Abnormal vestibular function, Sensorineural hearing impairment OMIM:607821
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement OMIM:276821
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... OMIM:272460
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Short neck, Flexion contractu... OMIM:616897
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Waddling gait, Lumbar ... ORPHA:99642
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Joint stiffness, Metatarsus ad... ORPHA:2249
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Mandibular prog... OMIM:231070
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra... OMIM:224300
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyly of the 5th finger, R... OMIM:210720
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Short ... OMIM:187600
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Coronal craniosynostosis, Knee dislocation, Irregular epiphyses of the metacarpals,... OMIM:614078
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Short foot, Dolichocephal... ORPHA:166277
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Accelerated skeletal maturation, Irregular vertebral endplat... OMIM:618363
Craniosynostosis 3
Hallux valgus, Sagittal craniosynostosis, Dental malocclusion, Left unicoronal synostosis, Right ... OMIM:615314
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Frontal bossing, Osteomalacia, Bowing of the legs, Osteoarthritis, ... OMIM:307800
Bruck Syndrome 2
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Femoral bow... OMIM:609220
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Arthrogryposis, Distal, Type 6
Sensorineural hearing impairment OMIM:108200
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal form of the vertebral bodi... ORPHA:3104
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali... ORPHA:2141
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Broad hallux, Kyphoscoliosis, Shuffling gait, Hypermobility of interphalangeal joints, Atlantoaxi... ORPHA:3433
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... ORPHA:1860
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... ORPHA:93314
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Large for gestational age, Short neck, Thick lower li... ORPHA:2563
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Auriculocondylar Syndrome 2A
Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Micrognathia, Nar... OMIM:614669
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... ORPHA:2098
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Short neck, Brachycephaly, Downturned corners of mouth, Thoracic kyphosis, High pal... ORPHA:163649
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, Deviation of ... ORPHA:2831
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Death in infancy, Lumbar hyperlordosis, Flat acetabu... OMIM:256050
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... ORPHA:1350
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... ORPHA:2639
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... OMIM:600384
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Hypophosphatasia, Childhood
Frontal bossing, Craniosynostosis, Bowing of the legs, Carious teeth, Premature loss of primary t... OMIM:241510
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ... ORPHA:166002
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b... ORPHA:2878
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Abnorma... ORPHA:1275
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... ORPHA:477781
Kniest Dysplasia
Hip contracture, Enlarged joints, Rhizomelia, Dumbbell-shaped long bone, Tracheomalacia, Delayed ... OMIM:156550
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Hyperlordosis, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced ... ORPHA:970
Grant Syndrome
Micrognathia, Down-sloping shoulders, Tibial bowing OMIM:138930
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... ORPHA:2635
Sclerosteosis
Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty... ORPHA:3152
17Q21.31 Microduplication Syndrome
Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Microcephaly, Abnormality of the dent... ORPHA:217340
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia ORPHA:71289
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1248
Stuve-Wiedemann Syndrome 1
Enlarged joints, Micrognathia, Short neck, Knee flexion contracture, Femoral bowing, Tibial bowin... OMIM:601559
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Cutis Laxa, Autosomal Recessive, Type Iie
Joint laxity, Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosyno... OMIM:619451
Alpha-Mannosidosis
Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Depressed nasal bridg... ORPHA:61
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... ORPHA:2347
Solitary Bone Cyst
Back pain, Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Abnormal form of... ORPHA:83468
Acrodysostosis
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... ORPHA:950
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M... OMIM:227270
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Increa... ORPHA:94068
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Radioulnar synostosis, Scol... ORPHA:3268
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Frontal bossing, Anteverted nares, Genu recurvatum, Broad nasal... OMIM:300602
Mazabraud Syndrome
Fibrous dysplasia of the bones, Bone pain, Recurrent fractures ORPHA:57782
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Scoliosis, Joint stiffness OMIM:166700
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Orofacial cleft, Forearm undergrowth, Lower limb undergrowth, Convex nasal ridge OMIM:218650
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... OMIM:602080
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dislocated radi... OMIM:612350
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvi... ORPHA:2370
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb... OMIM:619795
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Toe syndactyly, Broad hallux, Long nose, Congenital stapes ankylosis, Proximal/... OMIM:184460
Lethal Osteosclerotic Bone Dysplasia
Posteriorly rotated ears, Anteverted nares, Microcephaly, Micrognathia, Large fontanelles, Depres... ORPHA:1832
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Angulated humerus, Bowing of the long bones, Microretrognathia, Small for gestational... OMIM:616229
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Pes planus, Wormian bones, Recurrent fractur... OMIM:610967
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Multipl... OMIM:156510
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Abnorm... ORPHA:93360
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Broa... ORPHA:56304
Ectodermal Dysplasia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:224800
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis, Osteoporosis, Diaphyse... OMIM:614727
Holoprosencephaly, Semilobar, With Craniosynostosis
Coxa valga, Hypoplastic vertebral bodies, Lambdoidal craniosynostosis, Coronal craniosynostosis, ... OMIM:601370
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome
Abnormality of lower limb joint, Camptodactyly of finger, Scoliosis, Hearing impairment ORPHA:85164
Craniosynostosis, Adelaide Type
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... OMIM:600593
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Kyphoscoliosis, Ankle contracture, Spinal rigidity, Reduced f... OMIM:620386
Femoral-Facial Syndrome
Short femur, Micrognathia, Abnormal rib morphology, Rib fusion, Abnormal fibula morphology, Coxa ... ORPHA:1988
Rubinstein-Taybi Syndrome 2
Syndactyly, Broad hallux, Micrognathia, Carious teeth, Prominent nose, Talon cusp, Dental maloccl... OMIM:613684
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal ... ORPHA:93351
Campomelic Dysplasia
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ... ORPHA:140
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Abnormal fibula morphology, Abnormal form of the vertebral bodies, A... ORPHA:1837
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Frontal bossing, Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humero... OMIM:207410
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Recurrent fractures, Kyphoscoliosis, Protrusio acetabuli, Vertebral wed... OMIM:610968
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Micrognathia, Clef... ORPHA:2015
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... ORPHA:163665
Hyperparathyroidism, Transient Neonatal
Osteopenia, Frontal bossing, Wide cranial sutures, Short femur, Anteverted nares, Recurrent fract... OMIM:618188
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis OMIM:271200
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality... ORPHA:3035
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Caffey Disease
Tibial bowing, Periosteal thickening of long tubular bones, Calvarial hyperostosis, Bowing of the... OMIM:114000
Spondyloepiphyseal Dysplasia, Kimberley Type
Flat capital femoral epiphysis, Platyspondyly, Genu varum, Genu valgum OMIM:608361
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, Femoral bowing... OMIM:600920
Summitt Syndrome
Finger syndactyly, Prominent metopic ridge, Wide nose, Camptodactyly of finger, Craniosynostosis,... ORPHA:3210
Gorham-Stout Disease
Osteopenia, Abnormality of the temporomandibular joint, Abnormal pelvis bone morphology, Osteomye... ORPHA:73
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... OMIM:154780
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Mi... OMIM:602471
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Micrognathia, Short neck, Limitation of joint mobility, Abnormality of the e... ORPHA:1486
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Radi... OMIM:602875
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... OMIM:616331
Osteogenesis Imperfecta, Type X
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing... OMIM:613848
Aurocephalosyndactyly
4-5 toe syndactyly, Short columella, Craniosynostosis OMIM:109050
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg... ORPHA:85184
Weill-Marchesani Syndrome 1
Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Hypoplasia of the maxilla, Broad skull, ... OMIM:277600
Rhizomelic Chondrodysplasia Punctata, Type 1
Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Kyphoscoliosis, Flexion contr... OMIM:215100
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Frontal bossing, Micromelia, Elbow dis... ORPHA:3258
Worster-Drought Syndrome
Sensorineural hearing impairment, Abnormal cranial nerve morphology ORPHA:3465
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... ORPHA:2491
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormal ver... ORPHA:1427
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Frontal bossing, Aplasia/Hypoplasia of the fibula, Mic... ORPHA:2256
Bruck Syndrome 1
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... OMIM:259450
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyse... OMIM:251450
Cartilage-Hair Hypoplasia
Metaphyseal widening, Coxa vara, Femoral bowing, Neutropenia, Short palm, Joint laxity, Lumbar hy... OMIM:250250
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol... OMIM:142900
Holoprosencephaly-Craniosynostosis Syndrome
Craniosynostosis, Coxa valga, Microcephaly, Brachycephaly, Plagiocephaly, Hypoplastic vertebral b... ORPHA:2163
Epiphyseal Dysplasia, Multiple, 2
Epiphyseal dysplasia, Frontal bossing, Tibial torsion, Knee osteoarthritis, Flattened epiphysis, ... OMIM:600204
Ichthyosis--Cheek--Eyebrow Syndrome
Kyphoscoliosis OMIM:146720
Pseudoachondroplasia
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... OMIM:177170
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Dental malocclusion, Abnormal pelvic girdle bone morphology, Metacarpal... OMIM:144750
Humero-Radio-Ulnar Synostosis
Aplasia/Hypoplasia of the thumb, Abnormal thumb morphology, Upper limb asymmetry, Radioulnar syno... ORPHA:3266
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Brachycephaly, Femoral bowing, Abnormal shoulder morph... OMIM:274000
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... OMIM:600373
Osteogenesis Imperfecta, Type Xvii
Bowed humerus, Kyphoscoliosis, Hearing abnormality, Hip dislocation, Platyspondyly, Vertebral com... OMIM:616507
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... OMIM:609616
Hypophosphatemic Rickets, X-Linked Recessive
Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the le... OMIM:300554
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... OMIM:605432
Intellectual Developmental Disorder, X-Linked 19
Scoliosis, Kyphoscoliosis OMIM:300844
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... OMIM:611263
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius ORPHA:1765
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Rhizomelia, Microcephaly, Micrognathia, Flexion contracture, Epiphysea... OMIM:222765
Flynn-Aird Syndrome
Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased bone den... OMIM:136300
Greenberg Dysplasia
Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ... OMIM:215140
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Metaphyseal... ORPHA:440354
Grant Syndrome
Joint dislocation, Frontal bossing, Bowing of the long bones, Micrognathia, Brachycephaly, Joint ... ORPHA:2097
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Papilledema, Craniofacial hyperostosis, Thickened ribs, Craniofacial osteo... OMIM:122860
Craniofrontonasal Dysplasia
Depressed nasal ridge, Brachycephaly, Orofacial cleft, High palate, Clinodactyly of the 5th finge... ORPHA:1520
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Mandibular prognathia, Anteverted nares, Tapered finger, Long fingers, Dental malocclusion, High ... OMIM:618292
Osteomesopyknosis
Low back pain, Increased bone mineral density OMIM:166450
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micrognathia OMIM:277150
Pycnodysostosis
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Prominent nose, Gene... ORPHA:763
Epiphyseal Dysplasia, Multiple, 1
Waddling gait, Epiphyseal dysplasia, Short metacarpal, Pes planus, Ovoid vertebral bodies, Joint ... OMIM:132400
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... OMIM:250460
Summitt Syndrome
Syndactyly, Oxycephaly, Obesity, Craniosynostosis OMIM:272350
Osteogenesis Imperfecta, Type Xix
Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Ver... OMIM:301014
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v... OMIM:228520
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Frontal bossing, Relative macrocephaly, Mandibular prognathia, Recurrent fractures, D... ORPHA:2324
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Lateral humeral condyle aplasia, Fibular hypoplasia... OMIM:164900
Spinal Dysplasia, Anhalt Type
Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Coxa vara, Absent spinou... OMIM:601344
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... ORPHA:210110
Mycetoma
Back pain, Abnormality of the knee, Osteomyelitis, Structural foot deformity, Bone cyst, Osteopor... ORPHA:2583
Campomelic Dysplasia
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,... OMIM:114290
Osteogenesis Imperfecta, Type Iii
Frontal bossing, Wormian bones, Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple ... OMIM:259420
Metaphyseal Acroscyphodysplasia
Frontal bossing, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micro... ORPHA:1240
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay
Osteopenia, Recurrent fractures, Microcephaly OMIM:619884
Hyperekplexia 4
Kyphoscoliosis, Flexion contracture, Respiratory failure, Distal arthrogryposis, Talipes equinova... OMIM:618011
Diastrophic Dysplasia
Joint dislocation, Proximal placement of thumb, Micromelia, Micrognathia, Symphalangism affecting... ORPHA:628
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Short long bone, Scoliosis, Camptodactyly, Pulmon... OMIM:619751
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... OMIM:259600
Symphalangism, Proximal, 1A
Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... OMIM:185800
Intellectual Developmental Disorder, Autosomal Recessive 39
Hallux valgus, Dental malocclusion, Kyphoscoliosis, Prominent nose OMIM:615541
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... OMIM:128980
Osteoglosphonic Dysplasia
Failure to thrive in infancy, Rhizomelia, Craniosynostosis, Micrognathia, Anteverted nares, Choan... ORPHA:2645
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Frontal bossing, Sacral dimple, Craniosynostosis, Micrognathia, Short neck, Underdeveloped nasal ... ORPHA:1516
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Thin upper lip vermilion, Posteriorly rotated ears, Hypertelorism, Tapered finger, Broad nasal ti... OMIM:618147
Sclerosteosis 2
Mandibular prognathia, Facial palsy, Vertigo, Cranial nerve compression, Cutaneous finger syndact... OMIM:614305
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Hypertelorism, Broad nasal ti... OMIM:137550
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral ... OMIM:166220
Autosomal Recessive Omodysplasia
Frontal bossing, Abnormal morphology of the radius, Rhizomelia, Anteverted nares, Craniosynostosi... ORPHA:93329
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Micrognathia, Joint sti... ORPHA:1801
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Brain abscess, Lumbar hyperlordosis, Rhizomelia, Kyphosis, W... OMIM:616482
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Odontochondrodysplasia 1
Respiratory distress, Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger,... OMIM:184260
Rhiny
Short nose, Thin vermilion border, Anteverted nares OMIM:180360
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Irregular acetabular roof, Irregular iliac crest, Abnormality of the knee,... ORPHA:93316
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Camptodactyly Syndrome, Guadalajara Type 1
Attached earlobe, Mandibular prognathia, Brachycephaly, Downturned corners of mouth, High palate,... ORPHA:1327
Spondyloepimetaphyseal Dysplasia, Irapa Type
Waddling gait, Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum,... OMIM:271650
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Prominent nose, Wide anterior fontanel, Wide nas... OMIM:201170
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Dentinogenesis imperfecta, Platyspond... OMIM:259440
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Turricephaly, Toe syndactyly, Bowing of the long bones, Anteverted nares, Craniosynostosis, Micro... ORPHA:171839
Chst3-Related Skeletal Dysplasia
Waddling gait, Short metacarpal, Rhizomelia, Kyphoscoliosis, Flexion contracture, Abnormal form o... ORPHA:263463
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Calvarial skull defect, Abno... ORPHA:1426
Maternal Uniparental Disomy Of Chromosome 9
Kyphoscoliosis, Short neck, Hamstring contractures, Patellar dislocation, Osteochondrosis, Abnorm... ORPHA:96183
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, S... ORPHA:168555
Ivic Syndrome
Hypoplasia of the ulna, Frontal bossing, Short femur, Limited interphalangeal movement, Limited e... OMIM:147750
Non-Distal Duplication 10Q
Low-set, posteriorly rotated ears, Frontal bossing, Depressed nasal bridge, Microcephaly, Microgn... ORPHA:1695
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G... OMIM:250420
Three M Syndrome 2
Delayed eruption of teeth, Frontal bossing, Prominent nasal tip, Lumbar hyperlordosis, Anteverted... OMIM:612921
Perching Syndrome
Respiratory distress, Joint contracture, Scoliosis, Camptodactyly OMIM:617055
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Trigonocephaly With Short Stature And Developmental Delay
Small for gestational age, Sagittal craniosynostosis, Wide nasal bridge, Premature posterior font... OMIM:314320
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Mueller-Weiss Syndrome
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone... ORPHA:566943
Achard Syndrome
Joint laxity, Arachnodactyly, Micrognathia, Broad skull, Brachycephaly OMIM:100700
Omodysplasia 2
Short humerus, Frontal bossing, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Hypopl... OMIM:164745
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... ORPHA:168549
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Microcephaly, Abnormal limb bone morphology, Limb undergrowth, Ab... ORPHA:2204
Legg-Calvé-Perthes Disease
Cartilage destruction, Joint dislocation, Abnormality of the dentition ORPHA:2380
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the... ORPHA:429
Thoracomelic Dysplasia
Hyperlordosis, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Joint hyperflexibility... ORPHA:1803
Seckel Syndrome 4
11 pairs of ribs, Microcephaly, Low-set ears, Steep acetabular roof, Retrognathia OMIM:613676
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Enlarged epiphyses, Coxa vara, Abnormal shoulder morphology, Ir... ORPHA:1159
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Mes...