Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
EvC ciliary complex subunit 1
Synonyms:
Ellis van Creveld gene syndrome

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 Evc 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 predicted to be associated to Evc by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar flattening, Short 4th ... OMIM:118651
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino... OMIM:613330
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... OMIM:200700
Hypochondroplasia
Flared metaphysis, Lumbar hyperlordosis, Trident hand, Malar flattening, Aplasia/hypoplasia of th... OMIM:146000
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Aplasia/hypoplasia involving bones of the extremities, Platyspondyly, Arthralgia of the hip, Broa... ORPHA:1856
Kyphomelic Dysplasia
Narrow chest, Limitation of joint mobility, Micromelia, Abnormal form of the vertebral bodies, Jo... ORPHA:1801
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal foot morphology, Short tubular... ORPHA:85184
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Narrow chest, Micromelia, Flared metaphysis, Advanced tarsal ossif... OMIM:215045
Langer Mesomelic Dysplasia
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... OMIM:249700
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Narrow chest, Elbow dislocation, Genu valgum, Bell-shaped... ORPHA:1803
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... OMIM:269250
Rhizomelic Dysplasia, Ain-Naz Type
Platyspondyly, Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short hu... OMIM:619598
Achondrogenesis Type 2
Hypoplastic ilia, Narrow chest, Unossified sacrum, Micromelia, Absent vertebral body mineralizati... ORPHA:93296
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Bell-shaped thorax, Narrow vertebral interpedicular distance, Sh... OMIM:602557
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Micrognathia, Bell-sha... OMIM:614524
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... OMIM:127300
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Platyspondyly, Multiple joint dislocation, Short femoral neck, Knee dislocation, Joint... OMIM:618395
3M Syndrome
Thin ribs, Decreased fertility, Short neck, Everted lower lip vermilion, Hypoplastic ischia, Abno... ORPHA:2616
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Neonatal dea... OMIM:108720
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ... OMIM:603546
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic i... OMIM:151210
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Short neck, Flat acetabular roo... OMIM:271700
Acrodysostosis
Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphol... ORPHA:950
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Narrow chest, Lumbar platyspondyly, Coarse metaphyseal trabecularization, Thoracic platyspondyly,... OMIM:618961
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Microglossia, Short thumb, Retrognathia, Microgna... OMIM:227270
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Nar... OMIM:228520
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Brachydactyly Type A1
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... ORPHA:93388
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Genu valgum, Deformed hum... ORPHA:2831
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Narrow mouth, Fibular hypoplasia, Su... OMIM:612447
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Cranioectodermal Dysplasia
Short distal phalanx of finger, Rhizomelia, Abnormality of the dentition, Narrow chest, Finger sy... ORPHA:1515
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Dysosteosclerosis
Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Increased interverte... OMIM:224300
Kyphomelic Dysplasia
Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Anterior rib cupp... OMIM:211350
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Microglossia, Short tibia, Short thumb, Sandal gap, Radial c... ORPHA:1972
Metaphyseal Chondrodysplasia, Spahr Type
Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Scoliosis, Reduced bo... ORPHA:2501
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Genu valgum, Micrognath... ORPHA:56304
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Lethal Kniest-Like Dysplasia
Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Abnormal cart... ORPHA:2347
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal sacrum morpholo... ORPHA:1988
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Micromelia, Flar... OMIM:187601
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... OMIM:617405
Syndactyly Type 4
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... ORPHA:93405
Three M Syndrome 1
Short 5th finger, Joint dislocation, Slender long bone, Long philtrum, Thick lower lip vermilion,... OMIM:273750
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short... OMIM:601438
Cenani-Lenz Syndactyly Syndrome
Broad hallux, Micrognathia, Malar flattening, Radioulnar synostosis, Hypodontia, Enamel hypoplasi... OMIM:212780
Achondroplasia
Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Thoracic hypoplasia, Femoral... OMIM:100800
Atelosteogenesis, Type Ii
Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia... OMIM:256050
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc... ORPHA:3258
Achondrogenesis, Type Ib
Hypoplastic ilia, Narrow chest, Micromelia, Absent or minimally ossified vertebral bodies, Malar ... OMIM:600972
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Narrow chest, Micromelia, Wide distal femor... OMIM:613320
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe... OMIM:200600
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Lumbar h... OMIM:602471
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morpholog... ORPHA:1842
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Squared... ORPHA:93352
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna... OMIM:215140
Multiple Synostoses Syndrome 1
Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndactyly, Proximal/middle sympha... OMIM:186500
Ulna Hypoplasia-Intellectual Disability Syndrome
Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Delayed cranial... ORPHA:2249
Omodysplasia 2
Broad femoral neck, Short 1st metacarpal, Long philtrum, Limited elbow flexion, Rhizomelic arm sh... OMIM:164745
Acrofacial Dysostosis Syndrome Of Rodriguez
Absent forearm, Clinodactyly, Short tibia, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs ... OMIM:201170
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu valgum, Broad foot, Carpal bone hypoplasia, Metaphyseal dysplasia, Broad phalanx, Short foot... OMIM:250420
Osteogenesis Imperfecta
Thin ribs, Carious teeth, Abnormal tibia morphology, Enlarged vertebral pedicles, Micrognathia, G... ORPHA:666
Hypophosphatasia, Infantile
Platyspondyly, Abnormality of the dentition, Metaphyseal cupping, Rachitic rosary, Unossified ver... OMIM:241500
Achondrogenesis, Type Ii
Microretrognathia, Long philtrum, Abnormal foot morphology, Short tubular bones of the hand, Hypo... OMIM:200610
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Aplasia/hy... ORPHA:75508
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow chest, Joint contracture of the hand, Limitation of joint mobility, Micromelia, Equinovaru... OMIM:224400
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Radial bowing, Micromelia, Preaxial polydactyly, Thoracic hypoplasia, Vertebral we... OMIM:617866
Spondyloepiphyseal Dysplasia Congenita
Dysplasia of the femoral head, Genu valgum, Micrognathia, Barrel-shaped chest, Limited elbow move... ORPHA:94068
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal cupping, Contractures of the large joints, Short femoral neck, Pes cavus, Short humer... OMIM:616716
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Thoracic hypopla... OMIM:187600
Thoracolaryngopelvic Dysplasia
Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta... OMIM:187760
Acro-Renal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Short neck,... ORPHA:958
Osteogenesis Imperfecta, Type X
Thin ribs, Genu valgum, Micrognathia, Fibular bowing, Bowing of the long bones, Osteopenia, Thora... OMIM:613848
Mietens-Weber Syndrome
Forearm undergrowth, Elbow flexion contracture, Pes planus, Dislocated radial head, Absent proxim... OMIM:249600
Fetal Akinesia Deformation Sequence 4
Retrognathia, 11 pairs of ribs, Micrognathia, Neonatal death, Short neck, Camptodactyly, High pal... OMIM:618393
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Structural foot deformity, Finger syndactyly, Short... ORPHA:93323
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Osteopenia, Unilateral cleft lip, Flared metaphysis, Thoracic hypoplasia, Decrease... OMIM:616897
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Broad hallux, 11 pairs ... OMIM:620073
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Short nec... OMIM:271665
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... ORPHA:2634
Van Bogaert-Hozay Syndrome
Tooth malposition, Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hy... OMIM:277150
48,Xxyy Syndrome
Carious teeth, Elbow dislocation, Open bite, Talipes, Radioulnar synostosis, Pes planus, Motor st... ORPHA:10
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus carinatum, Short ribs, Missing ribs, Pseudoarthrosis, Pectus excavatum, Scoliosis OMIM:618155
Poland Syndrome
Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Rib fusion, Sprengel anomaly, ... OMIM:173800
Fibrochondrogenesis
Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morphology, Camptodactyly of f... ORPHA:2021
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Cone-shaped epiphysis, Thoracic hypoplasia, Hamartoma of tongue, Femoral bow... OMIM:613091
Ulnar Hypoplasia With Impaired Intellectual Development
Talipes equinovarus, Bilateral ulnar hypoplasia, Limited elbow movement, Limitation of knee mobility OMIM:276821
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, High palate, Flat acetabu... OMIM:614091
Spondylometaphyseal Dysplasia, Corner Fracture Type
Pectus carinatum, Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of meta... OMIM:184255
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Postaxial oligodactyly, Malar flattening, Talipes equinovarus, Brachydactyly, A... ORPHA:52056
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,... OMIM:609052
Pyle Disease
Platyspondyly, Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persistence of... OMIM:265900
Autosomal Dominant Omodysplasia
Rhizomelia, Short 1st metacarpal, Elbow dislocation, Long philtrum, Micrognathia, Malar flattenin... ORPHA:93328
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Narrow chest, Micromelia, Long philtrum, Thoracic hypoplasia, Lateral clavicle ... OMIM:617895
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Long philtrum, Radial club hand, Abnormal dental morphology, Abnormality of the wri... ORPHA:2878
Ulnar Hypoplasia
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... OMIM:191440
Prieto Syndrome
Abnormality of the dentition, Radial deviation of finger, Clinodactyly, Retrognathia, 11 pairs of... OMIM:309610
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hypoplastic ilia, Narrow chest, Anisospondyly, Limitation of joint mobility, Micromelia, Broad lo... ORPHA:1865
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Scoliosis, Stippled calcification... OMIM:222765
Clark-Baraitser syndrome
Genu recurvatum, Scoliosis, Exaggerated median tongue furrow, Thick lower lip vermilion, Genu val... OMIM:300602
Anonychia-Microcephaly Syndrome
Clinodactyly of the 5th finger, Carious teeth, Abnormality of the dentition, Bilateral single tra... ORPHA:1094
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,... ORPHA:93351
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... OMIM:119600
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Genu valgum, Micrognathia, Hip contracture, Pes planus, Flattened epiphysis, High ... OMIM:618363
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Genu varu... OMIM:271510
Orofaciodigital Syndrome Type 10
Short tibia, Fibular aplasia, Micrognathia, Cleft soft palate, Short neck, Tarsal synostosis, Mes... ORPHA:2756
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Narrow chest, Micromelia, Micrognathia, Femoral bowing, Dumbbel... ORPHA:440354
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Seckel Syndrome 4
11 pairs of ribs, Retrognathia, Steep acetabular roof OMIM:613676
Microcephaly-Micromelia Syndrome
Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Narrow mouth, Hu... OMIM:251230
Acromesomelic Dysplasia 1
Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ... OMIM:602875
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ... ORPHA:2491
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Barrel-shaped chest, ... OMIM:143095
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar... ORPHA:363417
Bent Bone Dysplasia Syndrome 2
Thin ribs, Osteopenia, Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, ... OMIM:620076
Pde4D Haploinsufficiency Syndrome
Micrognathia, Broad foot, Pes planus, Broad phalanx, Bilateral coxa valga, Short metacarpal, Irre... ORPHA:439822
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ... ORPHA:2141
Heart-Hand Syndrome Type 2
Asymmetry of the thorax, Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal... ORPHA:1350
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Natal tooth, Distal shortening of limbs, Micrognathia, Protruding tongue, B... ORPHA:50945
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Greenberg Dysplasia
Platyspondyly, Rhizomelia, Narrow chest, Micromelia, Abnormal pelvis bone ossification, Abnormal ... ORPHA:1426
Mesomelic Limb Shortening And Bowing
Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm,... OMIM:249710
Atelosteogenesis Type I
Platyspondyly, Rhizomelia, Narrow chest, Joint dislocation, Thoracic hypoplasia, Absent or minima... ORPHA:1190
Rubinstein-Taybi Syndrome 2
Narrow palate, Broad thumb, Carious teeth, Prominent fingertip pads, Short 5th toe, Broad hallux,... OMIM:613684
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Short first metatarsal, Micrognathia, Epiphyseal stippling, Ulnar bowing, P... OMIM:619135
Metatropic Dysplasia
Narrow chest, Scoliosis, Hypoplastic cervical vertebrae, Micromelia, Coarse metaphyseal trabecula... ORPHA:2635
Ellis-Van Creveld Syndrome
Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Natal tooth, Delayed erupti... OMIM:225500
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... ORPHA:2790
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Arthralgia of the hip, Abnor... ORPHA:166002
Pallister-Hall-Like Syndrome
Toe syndactyly, Postaxial foot polydactyly, Micromelia, Microglossia, Micrognathia, Short ribs, M... OMIM:241800
Pyknoachondrogenesis
Stillbirth OMIM:265880
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Mi... OMIM:600920
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Thoracic hypoplasia, Thoracic dysplasia, Genu valgum, Bell-shaped thorax, Short ribs, Orofacial c... OMIM:615630
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac... OMIM:184260
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia, Hypoplasia of the... ORPHA:2256
Intellectual Developmental Disorder, Autosomal Recessive 35
Clinodactyly, Downturned corners of mouth, Long philtrum, Micrognathia, Malar flattening, Thin up... OMIM:615162
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Clinodactyly, Long philtrum, Micrognathia, Malar flattening, Thin upper lip vermilion, Hypoplasia... ORPHA:357175
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Retrognathia, Elbow dislocation, Camptodactyly of finger, Abnormal... ORPHA:2631
Myhre Syndrome
Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Overlapping toe, Enlarged ver... OMIM:139210
Trochlea Of The Humerus, Aplasia Of
Cleft palate, Short humerus OMIM:191000
Metaphyseal Dysplasia Without Hypotrichosis
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Abnormality of the ve... OMIM:250460
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short hallux, Small... OMIM:268305
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal form of the vertebral ... ORPHA:3144
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Micrognathia, Narrow mouth, Intervertebral space narrowing, Radial head subluxation,... OMIM:614078
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Micromelia, Metaphyseal spurs, Thoracic hypoplasia, Irregular epiphyses, Posterior... OMIM:608728
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Pectus carinatum, Osteopenia, Short iliac bones, Flattened proximal radial epiphys... OMIM:271530
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Bell-shaped thorax, Flat acetabular roof, Cleft lip, Hamartoma of tongu... OMIM:616300
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Cervical ribs, Fibular aplasia, Mi... ORPHA:3320
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedging, Joint stiffness, Joint hyperm... ORPHA:40
48,Xxxy Syndrome
Carious teeth, Elbow dislocation, Open bite, Talipes equinovarus, Radioulnar synostosis, Pes plan... ORPHA:96263
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Pes planus, Beaking of vertebral bodies, Broad toe, Flat acetabular roof,... OMIM:609616
Acheiropody
Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... OMIM:200500
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome
Craniosynostosis, Orofacial cleft, Forearm undergrowth, Lower limb undergrowth OMIM:218650
Shox-Related Short Stature
Micrognathia, Genu valgum, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, ... ORPHA:314795
W Syndrome
Upper lip pit, Broad uvula, Radial bowing, Clinodactyly, Elbow dislocation, Pes cavus, Submucous ... ORPHA:2804
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Missing ribs, Abnormal vertebral segmentation and ... ORPHA:66637
Acrocapitofemoral Dysplasia
Pectus carinatum, Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck ... ORPHA:63446
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Diastrophic Dysplasia
Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Irreg... OMIM:222600
Stuve-Wiedemann Syndrome 1
Thin ribs, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, Talipe... OMIM:601559
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Median cleft upper lip, High palate, Cleft palate, Syndactyly OMIM:300484
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Thoracic hemiv... OMIM:268310
Acrodysostosis 1 With Or Without Hormone Resistance
Long hallux, Narrow vertebral interpedicular distance, Calvarial hyperostosis, Dislocated radial ... OMIM:101800
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Broad phalanx, Short phalanx of finger, Short metacarpal, Broad metacarpals OMIM:618724
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ... OMIM:250220
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Abnormal shoulder morphology, Micrognathia, Long thorax, Abnormal palate morpholo... ORPHA:1277
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Sandal gap, Butterfly vertebrae, Short humerus, Short ribs, Thin upper l... OMIM:607143
49,Xxxxy Syndrome
Carious teeth, Elbow dislocation, Open bite, Overfriendliness, Talipes equinovarus, Radioulnar sy... ORPHA:96264
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Micrognathia, So... OMIM:602418
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Micromelia, Flared, irregular rib ends, Coxa vara, S... ORPHA:168555
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Platyspondyly, Broad femoral neck, Arthralgia of the hip, Flared femoral me... OMIM:609324
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Spon... OMIM:252600
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Abnormal form of the vertebral bodies, Micrognathia... ORPHA:3104
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Di... OMIM:300863
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... ORPHA:2632
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Fibular aplasia, Micrognathia, Ta... ORPHA:56305
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Bell-shaped thorax, Micrognathia, Thick anterior alveol... ORPHA:2839
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Limitation of joint mobility, Finger syndac... ORPHA:3329
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep p... OMIM:605282
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Lethal Recessive Chondrodysplasia
Narrow chest, Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized os... ORPHA:1423
Melnick-Needles Syndrome
Tooth malposition, Hypoplastic scapulae, Delayed cranial suture closure, Genu valgum, Micrognathi... OMIM:309350
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Short tibia, Micrognathia, Neonatal death, Short neck, Cleft lip, Hamartoma of tongu... OMIM:617925
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Abnormal sternum morphology, S... ORPHA:166016
Osseous Heteroplasia, Progressive
Ankylosis, Limb undergrowth, Ectopic ossification in muscle tissue OMIM:166350
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture... ORPHA:1145
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Limited elb... ORPHA:79106
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Bowing of the long bones, Abnorm... ORPHA:628
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal form of the vertebral bod... ORPHA:429
Pyknoachondrogenesis
Abnormal intramembranous ossification, Craniofacial hyperostosis, Unossified sacrum, Short iliac ... ORPHA:3003
Metaphyseal Chondrodysplasia, Jansen Type
Tooth malposition, Metaphyseal cupping, Osteopenia, Pathologic fracture, Micrognathia, Knee flexi... OMIM:156400
Ulnar Hypoplasia-Split Foot Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot ORPHA:1122
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... OMIM:602111
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula... OMIM:200980
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Arms, Malformation Of
Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna OMIM:107900
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Meier-Gorlin Syndrome 1
Thin ribs, Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous finger syndact... OMIM:224690
Weaver Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe... OMIM:277590
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... OMIM:271650
Dental Anomalies And Short Stature
Platyspondyly, Hypoplasia of the maxilla, Widely spaced teeth, Herniation of intervertebral nucle... OMIM:601216
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Abnormal joint... ORPHA:1427
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bo... ORPHA:1837
Cranioectodermal Dysplasia 4
Short distal phalanx of finger, Broad distal phalanx of finger, Narrow chest, Broad phalanx of th... OMIM:614378
Cartilage-Hair Hypoplasia
Asymmetry of the thorax, Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid proce... OMIM:250250
Odontochondrodysplasia
Platyspondyly, Dentinogenesis imperfecta, Narrow chest, Cone-shaped epiphysis, Square pelvis bone... ORPHA:166272
Mietens Syndrome
Elbow dislocation, Avascular necrosis of the capital femoral epiphysis, Joint stiffness, Talipes,... ORPHA:2557
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral... ORPHA:1802
Kbg Syndrome
Radial deviation of finger, Long philtrum, Cervical ribs, Ulnar deviation of the 2nd finger, Macr... OMIM:148050
Seckel Syndrome 1
Ivory epiphyses, Micrognathia, Talipes, Pes planus, High palate, Dislocated radial head, Cone-sha... OMIM:210600
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sandwich appearance of vertebral bodies, Sclerosis of skull base, Fe... OMIM:602080
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Broad femoral neck, Ir... OMIM:132400
Postaxial Acrofacial Dysostosis
Finger syndactyly, Camptodactyly of finger, Micrognathia, Malar flattening, Hypoplasia of the uln... ORPHA:246
Thanatophoric Dysplasia Type 1
Platyspondyly, Hypoplastic ilia, Narrow chest, Micromelia, Joint stiffness, Femoral bowing, Bowin... ORPHA:1860
Acromicric Dysplasia
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long philtrum, Thick lower lip vermilio... OMIM:102370
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Finger clinodactyly, Widely spaced teeth, Periapical tooth abscess, Enamel hy... ORPHA:3352
Intellectual Disability, Birk-Barel Type
High, narrow palate, Foot joint contracture, Micrognathia, Open mouth, Tented upper lip vermilion... ORPHA:166108
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac... ORPHA:93333
Ophthalmomandibulomelic Dysplasia
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... ORPHA:2741
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Long fo... ORPHA:2563
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Dental crowding, Sandal gap, Short toe, Long philtrum, Short 5th metacarpal, 11 pairs... OMIM:617877
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, C... OMIM:113000
Microphthalmia With Limb Anomalies
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, F... ORPHA:1106
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Narrow chest, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Shor... OMIM:611263
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Platyspondyly, Vertebral wedging, Hypoplasia of the capital femoral epiphys... OMIM:617719
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Lobulated tongue, M... OMIM:258860
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Platyspondyly, Lower-limb metaphyseal irregularity, Irregular femoral epiphy... OMIM:618728
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar ... ORPHA:2319
Cerebrocostomandibular Syndrome
Carious teeth, Micrognathia, Cleft soft palate, Bell-shaped thorax, Short hard palate, High palat... OMIM:117650
Metaphyseal Anadysplasia
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho... ORPHA:1040
Alagille Syndrome
Short distal phalanx of finger, Abnormal form of the vertebral bodies, Micrognathia, Clinodactyly... ORPHA:52
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... OMIM:223800
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Natal tooth, Broad foot, Neonatal death, Short neck, Short foot, Short toe,... OMIM:269860
Poland Syndrome
Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the thumb... ORPHA:2911
Ophthalmomandibulomelic Dysplasia
Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Tempor... OMIM:164900
Filippi Syndrome
2-4 toe syndactyly, Finger clinodactyly, Serrated incisors, Abnormal dental morphology, Single tr... OMIM:272440
Codas Syndrome
Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Scoliosis, Dela... OMIM:600373
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Tooth malposition, Bifid femur, Carious teeth, Failure of eruption of permanen... ORPHA:2769
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Thoracic hypoplasia, Lumbar hyperlordosis, Limited elbow extension, Limb undergrowth, Pectus exca... ORPHA:156728
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Kyphosis, Increased bone mineral density, Barrel-shaped chest, Short humerus, Bowing ... OMIM:239000
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... ORPHA:1788
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Cranioectodermal Dysplasia 1
Clinodactyly, Anodontia, Broad distal phalanges of all fingers, Everted lower lip vermilion, Broa... OMIM:218330
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Nail-Patella Syndrome
Patellar aplasia, Talipes equinovarus, Pes planus, Disproportionate prominence of the femoral med... OMIM:161200
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Osteopenia, Rhizomelia, Microretrognathia, Narrow chest, Tooth agenesis, Decreased... OMIM:616229
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Craniometadiaphyseal Dysplasia
Osteopenia, Carious teeth, Natal tooth, Absent paranasal sinuses, Flared metaphysis, Broad long b... OMIM:269300
Anauxetic Dysplasia 2
Posterior wedging of vertebral bodies, Cervical spine instability, Hypoplasia of the femoral head... OMIM:617396
Intellectual Disability And Myopathy Syndrome
Congenital hip dislocation, Scoliosis, Dental malocclusion, Lumbar hyperlordosis, Limited elbow e... OMIM:619719
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... OMIM:304120
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Polysyndactyly of hallux, Pectus carinatum, Microglossia, Narrow chest, Postaxial ... OMIM:263520
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Sprengel anomaly, Plantar pits, Vertebral wedging... OMIM:109400
Diamond-Blackfan Anemia 11
Finger aplasia, Absent thumb, Unilateral radial aplasia, Bilateral cleft palate, Radioulnar synos... OMIM:614900
Rhizomelic Chondrodysplasia Punctata
Abnormality of the dentition, Rhizomelia, Abnormal epiphysis morphology, Limitation of joint mobi... ORPHA:177
Boomerang Dysplasia
Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology... ORPHA:1263
Upper Limb Mesomelic Dysplasia
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna ORPHA:2497
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Hypoplastic ilia, Vertebral wedging, Stiff neck, Joint stiffness, Internal tibial ... OMIM:616583
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Limitation of joint mo... ORPHA:3098
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... ORPHA:1570
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... OMIM:184253
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Abnormal sacrum morphology, Vertebral segmentation defect, Missing ribs, Short neck... ORPHA:1797
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Abnormal morphology ... ORPHA:3269
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Autosomal Recessive Omodysplasia
Rhizomelia, Micromelia, Long philtrum, Elbow dislocation, Pterygium, Micrognathia, Abnormal femur... ORPHA:93329
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Conical tooth, Short thumb, Cleft upper lip, Abnormal foot morphology... OMIM:263750
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis... OMIM:208500
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Limited hip movement, Dysplasia of the femoral head, Hip contracture, Abnormality of the knee, Pr... ORPHA:99642
Ruvalcaba Syndrome
Small hand, Narrow chest, Dental crowding, Micromelia, Kyphosis, Limited elbow extension, Short f... OMIM:180870
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Foot oligodactyly, Amelia, Bilateral cleft palate, Bilateral cleft lip, Scoliosi... OMIM:601357
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Micrognathia, Genu valgum, Talipes equino... OMIM:271640
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl... OMIM:607078
Seckel Syndrome 5
Retrognathia, Selective tooth agenesis, 11 pairs of ribs, Micrognathia, Oligodontia, Hypodontia, ... OMIM:613823
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Abnormal vertebral morphology, Platyspondy... ORPHA:93346
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Dental malocclusion, Slender long bone, Proxi... OMIM:616202
Marshall Syndrome
Radial bowing, Thick upper lip vermilion, Micrognathia, Absent frontal sinuses, Knee osteoarthrit... OMIM:154780
Rothmund-Thomson Syndrome
Carious teeth, Aplasia/Hypoplasia of the patella, Osteopenia, Aplasia/Hypoplasia of the radius, I... ORPHA:2909
Atelosteogenesis, Type Iii
Rhizomelia, Tombstone-shaped proximal phalanges, Hypoplasia of the maxilla, Radial bowing, Sandal... OMIM:108721
Orofaciodigital Syndrome Type 2
Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi... ORPHA:2751
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Preaxial polydactyly, Thoracic dysplasia, Acetabular spurs, ... OMIM:615503
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Oral-pharyngeal dysphagia, Misalignment of incisors, 11 pairs of ribs, Bicoronal... OMIM:619184
Distal Duplication 5Q
Carious teeth, Absent thumb, Long philtrum, Micrognathia, Narrow mouth, Hypoplasia of the ulna, H... ORPHA:96097
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,... OMIM:226900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Abnormality of the dentition, Osteopenia, Downturned corners of mout... OMIM:615398
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Arthralgia of the hip, Limitation of joint mobility, Avascular n... ORPHA:93308
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... ORPHA:239
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Scoliosis, Lower limb asymmetry, Joint dislocation, Genu valgum, Me... ORPHA:85198
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Talipes equinovaru... OMIM:134780
Osteogenesis Imperfecta, Type Ii
Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long... OMIM:166210
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Occipital Horn Syndrome
Genu valgum, Pes planus, High palate, Pectus carinatum, Broad clavicles, Limited elbow extension,... OMIM:304150
Osteogenesis Imperfecta, Type Iii
Thin ribs, Dentinogenesis imperfecta, Kyphosis, Slender long bone, Micrognathia, Protrusio acetab... OMIM:259420
Omodysplasia 1
Axillary pterygium, Rhizomelia, Popliteal pterygium, Short tibia, Limited knee flexion/extension,... OMIM:258315
Steinfeld Syndrome
Abnormal vertebral morphology, Bifid uvula, Abnormality of the vertebral column, Median cleft pal... OMIM:184705
Orofaciodigital Syndrome Ix
Abnormality of the dentition, Toe syndactyly, Short tibia, Median cleft upper lip, Hand polydacty... OMIM:258865
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Toe syndactyly, Elbow flexion contracture, High palate, Knee flexion contracture, Hip... OMIM:616809
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Narrow chest, Sandal gap, Sh... OMIM:617102
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Kyphosis, Short 4th toe, Short humerus, Short neck, Brachydactyly, Short lo... ORPHA:420794
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Abnormal lip morphology, Aplasia/Hypoplasia of the tongue,... ORPHA:2759
Multiple Epiphyseal Dysplasia, Beighton Type
Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter... ORPHA:166011
Mucopolysaccharidosis Type 4
Carious teeth, Genu valgum, Bowing of the long bones, Short neck, Pectus carinatum, Joint disloca... ORPHA:582
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa... ORPHA:85170
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... ORPHA:3344
Aase-Smith Syndrome
Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:916
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hypoplastic scapulae, Finger syndactyly, Micrognathia, 2-5 finger syndactyly, Absent toe, Syndact... OMIM:308050
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Short nec... OMIM:253000
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Laron Syndrome
Delayed menarche, Limb undergrowth, Short long bone, Abnormal joint morphology OMIM:262500
Ulbright-Hodes Syndrome
Thin ribs, Fibular aplasia, Micrognathia, Narrow mouth, Humeroradial synostosis, Talipes equinova... ORPHA:3404
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Rhizomelia, Narrow chest, Thoracic hypoplasia, Reduced sperm motility, Proximal fe... OMIM:602271
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Limitation of joint mob... ORPHA:93284
Osteogenesis Imperfecta, Type Viii
Thin ribs, Radial bowing, Barrel-shaped chest, Decreased skull ossification, Multiple prenatal fr... OMIM:610915
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Abnormal epiphysis morphology, Short 1st metacarpal, Delayed eruption of teet... ORPHA:63442
Microcephaly, Short Stature, And Limb Abnormalities
Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy... OMIM:617604
Hyperparathyroidism, Transient Neonatal
Thin ribs, Osteopenia, Fractured rib, Narrow chest, Metaphyseal spurs, Femoral bowing, Undulate r... OMIM:618188
Metaphyseal Anadysplasia 2
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... OMIM:613073
Trichodentoosseous Syndrome
Taurodontia, Increased bone mineral density, Microdontia, Widely spaced teeth OMIM:190320
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Lumbar hyperlordosis, Genu valgum, Intervert... OMIM:609223
Acrocephalopolydactyly
Genu recurvatum, Thoracic hypoplasia, Short neck, Limb undergrowth, Brachydactyly, Short long bone ORPHA:221054
Multiple Epiphyseal Dysplasia Type 4
Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Abnormal hand morpho... ORPHA:93307
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Precocious costochondral ossification, Lumbar hyperlordosis... OMIM:271630
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Dentinogenesis imperfecta, Pectus carinatum, Kyphosis, Bowing of limbs due to mult... OMIM:259440
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Scoliosis, Hypoplastic cervical vertebrae, Retrognathia, Elbow dislocation, Knee dislocation, Sma... OMIM:620269
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg... ORPHA:1159
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Hypophosphatasia, Childhood
Rachitic rosary, Carious teeth, Premature loss of primary teeth, Craniosynostosis, Bowing of the ... OMIM:241510
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... OMIM:246570
Osteogenesis Imperfecta, Type Xix
Dentinogenesis imperfecta, Rhizomelia, Pectus carinatum, Osteopenia, Vertebral wedging, Bowing of... OMIM:301014
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Micromelia, Ca... ORPHA:2633
Eiken Syndrome
Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Multiple unerupted teeth,... OMIM:600002
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Abnorm... ORPHA:1354
Mesomelia-Synostoses Syndrome
Synostosis of joints, Synostosis of carpal bones, Aplasia/Hypoplasia of the uvula, Abnormal tibia... ORPHA:2496
Multiple Osteochondromas
Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology,... ORPHA:321
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... OMIM:619636
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os... ORPHA:93356
Catel-Manzke Syndrome
Ulnar deviation of the 2nd finger, Genu valgum, Micrognathia, Narrow mouth, Talipes equinovarus, ... OMIM:616145
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cone-shaped epiphysis, Thoracic hypoplasia, Small cervical vertebral bodies, Cervical spinal cana... ORPHA:397715
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Long fo... OMIM:157980
Achondrogenesis Type 1A
Narrow chest, Micromelia, Long philtrum, Abnormal enchondral ossification, Micrognathia, Multiple... ORPHA:93299
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Chst3-Related Skeletal Dysplasia
Rhizomelia, Delayed eruption of teeth, Long philtrum, Abnormal form of the vertebral bodies, Irre... ORPHA:263463
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Achondroplasia
Flat acetabular roof, Thoracic hypoplasia, Cervical spinal canal stenosis, Limited elbow extensio... ORPHA:15
Meier-Gorlin Syndrome 3
Hypoplasia of the maxilla, Microretrognathia, Narrow chest, Slender long bone, Patellar hypoplasi... OMIM:613803
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Narrow mouth, Redu... ORPHA:2370
Smith-Magenis Syndrome
Self-injurious behavior, Toe syndactyly, Abnormal form of the vertebral bodies, Cleft upper lip, ... ORPHA:819
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Micrognathia, Short neck, Hi... OMIM:266920
Cooper-Jabs Syndrome
Camptodactyly of finger, Abnormal hip bone morphology, Reduced bone mineral density, Malar flatte... ORPHA:1488
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Accessory oral frenulum... OMIM:277170
Achondrogenesis Type 1B
Narrow chest, Micromelia, Long philtrum, Abnormal rib morphology, Abnormal enchondral ossificatio... ORPHA:93298
Campomelic Dysplasia
Small abnormally formed scapulae, Narrow chest, Kyphosis, Tracheomalacia, 11 pairs of ribs, Micro... ORPHA:140
Duane-Radial Ray Syndrome
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi... OMIM:607323
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o... OMIM:252500
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Mandibular prognathia, Micromelia ORPHA:2252
Kniest Dysplasia
Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Short neck, Lumba... OMIM:156550
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Clinodactyly, Pes planus, Everted lower lip vermilion, High palate, Motor stereotypy, Self-injuri... OMIM:620494
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Narrow chest, Thoracic hypoplasia, Long philtrum, Widely spaced teeth, Trident pelvis, Short ling... OMIM:619479
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... OMIM:156500
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili... ORPHA:2639
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ... ORPHA:356961
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Short humerus, Neonatal death... OMIM:314390
Oculodentodigital Dysplasia
Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Micrognathia, Short hallux, Mandi... ORPHA:2710
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Abnormal vertebral morphology, Carpal synostosis, Micrognathia, Narr... OMIM:218600
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Decreased skull ossifi... ORPHA:1452
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Sma... OMIM:257850
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat... OMIM:142900
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Narrow ... ORPHA:85166
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Lumbar hyperlordosis, ... OMIM:612813
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Clinodactyly, Velopharyngeal insufficiency, Overlapping toe, Micrognathia, Talipe... OMIM:154400
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Abnormal epiphysis morphology, Micromelia, Osteoarthritis, Short thorax ORPHA:93283
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Calvarial hyperostosis, Squared iliac ... OMIM:112350
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Genu valgum, Micrognathia, Cleft soft palate, Metaphyseal dysplasia, A... ORPHA:93316
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Hip contra... OMIM:210710
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Micrognathia, Genu valgum, Narrow mouth, Talipes equinovarus, Radioulnar syn... OMIM:245600
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Thick upper lip vermilion, Hypoplastic iliac wing, Carpal bone h... OMIM:611717
Dysostosis, Stanescu Type
Carious teeth, Bowing of the long bones, Short neck, Increased bone mineral density, Hypoplasia o... ORPHA:1798
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Sh... OMIM:251450
Pycnodysostosis
Small hand, Carious teeth, Acromelia, Delayed cranial suture closure, Hypoplastic iliac wing, Mic... ORPHA:763
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Nonopposable triphalangeal thumb, Hypoplasia of the radius, Diastema OMIM:179250
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Joint contracture of the hand, Pes planus, Flattened epiphysis, High palate, Dislocated radial he... OMIM:612350
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... OMIM:300106
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Pes planus, Thoracolumbar scoli... ORPHA:457395
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Shortening of all phalanges of fingers, Wormian bones, Limb undergrowth, Shortenin... OMIM:601356
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contracture, Bowing o... OMIM:255800
Cdags Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Delayed cranial suture closure, Malar flat... OMIM:603116
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Platyspondyly, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared ... OMIM:215150
Hall-Riggs Syndrome
Platyspondyly, Abnormal epiphysis morphology, Downturned corners of mouth, Delayed eruption of te... ORPHA:2107
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Short neck, Abnormal bone ossification, Flattened epiphysis, High palate, Flat acet... ORPHA:163649
Distal Deletion 17Q
Small hand, Deviation of finger, Micromelia, Abnormal form of the vertebral bodies, Aplasia/Hypop... ORPHA:1597
Spondylocostal Dysostosis 5
Pectus carinatum, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Short neck, Low back pai... OMIM:122600
Campomelic Dysplasia
Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv... OMIM:114290
Acromicric Dysplasia
Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Long philtrum, Thic... ORPHA:969
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Clinodactyly of the 2nd finger, Velopharyngeal insufficiency, Micrognathia, Pes planus, Diaphysea... OMIM:620663
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Nance-Horan Syndrome
Diastema, Supernumerary maxillary incisor, Mulberry molar, Short phalanx of finger, Screwdriver-s... OMIM:302350
Terminal Osseous Dysplasia
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Acc... OMIM:300244
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma... ORPHA:485
Ollier Disease
Platyspondyly, Micromelia, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromato... ORPHA:296
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r... ORPHA:959
Osteogenesis Imperfecta, Type V
Platyspondyly, Dentinogenesis imperfecta, Abnormal pelvic girdle bone morphology, Osteopenia, Ver... OMIM:610967
Stuve-Wiedemann Syndrome 2
Thoracic hypoplasia, Neonatal death, Bowing of the long bones, Dysphagia, Short long bone, Stillb... OMIM:619751
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Micrognathia, Tibial bowing, Abnormality of the lower limb, Bowing of the long bon... ORPHA:3035
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Congenital contracture, Pursed lips, Long philtrum, Elbow flexion contracture, 11 pairs of ribs, ... OMIM:616266
Mucopolysaccharidosis, Type Ivb
Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Bilateral... OMIM:253010
Focal Dermal Hypoplasia
Abnormality of the dentition, Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndac... ORPHA:2092
Hallermann-Streiff Syndrome
High, narrow palate, Abnormality of the dentition, Small hand, Rib exostoses, Natal tooth, Trache... ORPHA:2108
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Small hand, Carious teeth, Delayed cranial suture closure, Decreased skull ossificatio... ORPHA:93324
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Foot polydactyly, Vertebral segmentation defect, Missing ribs, Aplasia/Hypoplasia of the thumb, M... ORPHA:3186
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rachitic rosary, Rickets, O... OMIM:307800
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Gen... OMIM:184250
Smith-Mccort Dysplasia 1
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg... OMIM:607326
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Hypop... OMIM:252100
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Micrognathia, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Clinodactyl... ORPHA:1352
Chondroectodermal Dysplasia With Night Blindness
Epiphyseal dysplasia, Osteopenia, Platyspondyly, Fractures of the long bones, Equinovarus deformi... ORPHA:319195
Laurin-Sandrow Syndrome
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Preaxi... ORPHA:2378
Diaphanospondylodysostosis
Unossified sacrum, Thoracic hypoplasia, Delayed vertebral ossification, Tracheomalacia, Micrognat... OMIM:608022
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor, Adducted thumb, Brachydactyly, Single transverse palmar crease OMIM:620062
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Broad foot, Short neck, Pes planus, Radial head subluxation, A... OMIM:615777
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Cone-shaped epiphysis, Horizontal ribs, Aplasia of the epiglottis, Short ribs, Post... OMIM:617088
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Clinodactyly of the 2nd finger, Genu valgum, Pes planus, Finger joint hypermobility, Flat acetabu... OMIM:618870
Acromesomelic Dysplasia, Hunter-Thompson Type
Abnormal pelvic girdle bone morphology, Abnormality of the ankle, Hip dislocation, Short thumb, E... ORPHA:968
Cardioacrofacial Dysplasia 2
Conical tooth, Postaxial foot polydactyly, Narrow chest, Genu valgum, Tented upper lip vermilion,... OMIM:619143
Braddock Syndrome
Preaxial hand polydactyly, Micrognathia, Missing ribs, Short neck, Hemivertebrae, Pectus excavatu... ORPHA:52047
Melnick-Needles Syndrome
Tooth malposition, Craniofacial hyperostosis, Delayed cranial suture closure, Micrognathia, Bowin... ORPHA:2484
Cardioacrofacial Dysplasia 1
Conical tooth, Hypoplasia of the maxilla, Diastema, Genu valgum, Long thorax, Postaxial polydacty... OMIM:619142
Becker Nevus Syndrome
Pectus carinatum, Lower limb asymmetry, Micromelia, Abnormal tibia morphology, Rib fusion, Supern... ORPHA:64755
Cole-Carpenter Syndrome
Kyphosis, Delayed eruption of teeth, Abnormal form of the vertebral bodies, Abnormal dental ename... ORPHA:2050
Tooth Agenesis, Selective, 9
Taurodontia, Selective tooth agenesis, Microdontia OMIM:617275
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal form of the vertebral bodies,... ORPHA:3429
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormality of the dentition, Carious teeth, Abnormal palate morphology, Radioulnar synostosis, P... ORPHA:3270
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... ORPHA:93315
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Carious teeth, Rickets, Bulging e... OMIM:277440
Anauxetic Dysplasia 3
Broad middle phalanx of finger, Platyspondyly, Metaphyseal cupping, Narrow chest, Retrognathia, S... OMIM:618853
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Femoral bowing, Tibial bowin... OMIM:608940
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Small hand, Joint contracture of the hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, N... OMIM:235510
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Delay... OMIM:264700
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Short neck, Chordee, Bro... OMIM:166250
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Carious teeth, Generalized hypoplasia of dental enamel, Cutaneous finger syndactyly, Thoracic kyp... OMIM:203550
Osteogenesis Imperfecta, Type Vii
Delayed cranial suture closure, Multiple prenatal fractures, Protrusio acetabuli, Osteopenia, Ver... OMIM:610682
Ruvalcaba Syndrome
Pectus carinatum, Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Dent... ORPHA:3121
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth... ORPHA:166277
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Hypoplasia of the odontoid process, Broad foot, Short neck, Anterior rib cupping, Flat... OMIM:300232
Hall-Riggs Syndrome
Platyspondyly, Kyphosis, Thick lower lip vermilion, Hypoplasia of the primary teeth, Enamel hypop... OMIM:234250
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio... OMIM:600081
Ulnar-Mammary Syndrome
Hypoplastic scapulae, Short 5th toe, Absent radius, Short 5th finger, Hypodontia, Postaxial hand ... OMIM:181450
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te... OMIM:618067
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
11 pairs of ribs, Micrognathia, Aggressive behavior, Glossoptosis, Cleft palate, Hyperextensibili... OMIM:618356
Maxillonasal Dysplasia, Binder Type
Short distal phalanx of finger, Dental malocclusion, Vertebral clefting, Patchy distortion of ver... OMIM:155050
Yunis-Varon Syndrome
Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Micrognathia, Decrea... ORPHA:3472
Acrorenal Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Abnormal morphology of... ORPHA:971
Schimke Immuno-Osseous Dysplasia
Platyspondyly, Shallow acetabular fossae, Lumbar hyperlordosis, Hypoplastic pelvis, Microdontia, ... ORPHA:1830
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Broad clavicles, Delayed eruption of teeth, Rhizomelic arm shortening, Gingival overgrowth, Abnor... ORPHA:508542
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Genu valgum, Malar flattening, Hypodontia,... ORPHA:2972
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis, Short thorax, Abnormal metaphysis morp... ORPHA:93304
Paternal Uniparental Disomy Of Chromosome X
Cubitus valgus, Short neck, Infertility, Shield chest, Short metacarpal ORPHA:261524
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Kuskokwim Syndrome
Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Abnormal form of the vertebral bo... ORPHA:1149
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Long philtrum, Aplasia/Hypoplasia involving the pelvis, Broad long bones, Rhizo-meso-acromelic li... ORPHA:163654
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra... OMIM:615633
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Slender long bone, Abnormal form of the vertebral bodies, Abnormal ... ORPHA:1486
Radio-Renal Syndrome
High, narrow palate, Micromelia, Downturned corners of mouth, Retrognathia, Abnormal form of the ... ORPHA:3015
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, Dentinogenesis imperfecta, Pectus carinatum, Hypermobility of interphal... OMIM:613849
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f... ORPHA:2928
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Congenital Insensitivity To Pain With Severe Intellectual Disability
Talipes equinovalgus, Osteomyelitis, Micrognathia, Tibial bowing, Self-mutilation, Congenital bil... ORPHA:453510
Shprintzen-Goldberg Syndrome
Elbow dislocation, Genu valgum, Micrognathia, Arachnodactyly, Bowing of the long bones, Pes planu... ORPHA:2462
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Pes planus, ... ORPHA:93357
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Abnormality of the dentition, Dental malocclusion, Hypoplastic il... ORPHA:1858
Smith-Mccort Dysplasia 2
Hypoplasia of the odontoid process, Genu valgum, Barrel-shaped chest, Short neck, Pes planus, Bro... OMIM:615222
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ... OMIM:144750
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap... OMIM:276820
Caudal Regression Syndrome
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Joint stiffness, Missin... ORPHA:3027
Thalidomide Embryopathy
Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi... ORPHA:3312
Noonan Syndrome 12
Pectus excavatum, 11 pairs of ribs, Proximal placement of thumb, Spinal canal stenosis OMIM:618624
Nager Syndrome
Hypoplasia of the maxilla, Aplasia/H