Gene Summary

Name:
receptor tyrosine kinase-like orphan receptor 2
Synonyms:
Ntrkr2

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal tail morphology Ror2em1(IMPC)Mbp HOM E15.5 0.00
cleft palate Ror2em1(IMPC)Mbp HOM E15.5 0.00
polydactyly Ror2em1(IMPC)Mbp HOM E15.5 0.00
increased grip strength Ror2em1(IMPC)Mbp HET Early adult 1.56×10-05
embryonic growth retardation Ror2em1(IMPC)Mbp HOM E15.5 0.00
preweaning lethality, complete penetrance Ror2em1(IMPC)Mbp HOM   Early adult 0.00
persistence of hyaloid vascular system Ror2em1(IMPC)Mbp HET Early adult 2.23×10-05
cataract Ror2em1(IMPC)Mbp HET   Early adult 1.35×10-06
abnormal placenta morphology Ror2em1(IMPC)Mbp HOM E15.5 0.00
abnormal vitreous body morphology Ror2em1(IMPC)Mbp HET   Early adult 1.42×10-06
abnormal placenta vasculature Ror2em1(IMPC)Mbp HOM E15.5 0.00
abnormal craniofacial morphology Ror2em1(IMPC)Mbp HOM E15.5 0.00
abnormal limb morphology Ror2em1(IMPC)Mbp HOM E15.5 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

33 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Human diseases caused by Ror2 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 Ror2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Ror2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Broad nasal tip, Fibular hypoplasia, Dislocated radial head, ... ORPHA:166016
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Cupped ribs, Delayed ossification of carpal bones, Cone-shaped metacarp... OMIM:607778
Multiple Epiphyseal Dysplasia With Robin Phenotype
Broad nasal tip, Fibular hypoplasia, Micrognathia, Scoliosis, Genu valgum, Cleft palate, Brachyda... OMIM:601560
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Lumbar platyspondyly, Fibular hypoplasia, Hypoplasia of the radius, Absen... OMIM:601376
Brachydactyly, Type A1, D
Short distal phalanx of the thumb, Short proximal phalanx of finger, Clinodactyly of the 5th fing... OMIM:616849
Eiken Syndrome
Abnormal trabecular bone morphology, Fibular hypoplasia, Broad palm, Abnormal bone ossification, ... ORPHA:79106
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Hypoplasia of the ulna, Flexion contracture, Fi... OMIM:200700
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Fibular hypoplasia, Scoliosis, Short tibia, Short toe, Abnormal... OMIM:127300
Spondylometaphyseal Dysplasia, East African Type
Brachydactyly, Genu varum, Ovoid vertebral bodies, Metaphyseal spurs, Rounded epiphyses, Bell-sha... OMIM:611702
Rhizomelic Dysplasia, Ain-Naz Type
Short femoral neck, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Rhizomelia, L... OMIM:619598
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Irregular epiphyses, Flattened epiphysis, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:1856
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Abnormality of the ver... OMIM:112910
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Coronal cleft vertebrae, Depressed nasal ridge, Short 4th metacarpal, Epiphyseal stippling, Micro... OMIM:118651
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Abnormal form of the vertebral bodies, Deviation of finger, Depressed nasal ridge,... ORPHA:2831
Rhizomelic Chondrodysplasia Punctata, Type 2
High palate, Abnormality of pelvic girdle bone morphology, Flexion contracture, Osteopenia, Rhizo... OMIM:222765
Metaphyseal Acroscyphodysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Micromelia, Scoliosis, Short toe, Metaphyseal widen... OMIM:250215
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Short hallux, Shor... ORPHA:93388
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, Talipes, Thoracic platyspondyly, 11 pairs of ribs,... OMIM:108720
Femoral-Facial Syndrome
Long philtrum, Micrognathia, Abnormal rib morphology, Scoliosis, Thin upper lip vermilion, Hip dy... ORPHA:1988
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Faciocardiomelic Dysplasia, Lethal
Narrow mouth, Hypoplasia of the ulna, Single transverse palmar crease, Talipes, Fibular hypoplasi... OMIM:227270
Fibrochondrogenesis 1
Long philtrum, Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly of the 5th finger... OMIM:228520
Acromesomelic Dysplasia, Maroteaux Type
Brachydactyly, Acromesomelia, Bowing of the long bones, Joint stiffness, Kyphosis, Ovoid vertebra... ORPHA:40
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Madelun... OMIM:249700
Lethal Faciocardiomelic Dysplasia
Narrow mouth, Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th... ORPHA:1972
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... OMIM:171480
Acrodysostosis
Abnormality of the ulna, Open bite, Cone-shaped epiphysis, Micromelia, Spinal canal stenosis, Sho... ORPHA:950
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Single transverse palmar crease, Shortening of all middle ... OMIM:201250
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Metaphyseal irregularity, Enlargement of the costochondral junction, Coxa valga, M... OMIM:609052
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short femur, Short humerus OMIM:600121
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Short metacarpal, Rhizomelia, Platyspondyly, Short humerus, Deformed humeral heads... OMIM:601438
Spondyloperipheral Dysplasia
Broad palm, Short thumb, Short distal phalanx of the 5th finger, Short toe, Brachydactyly, Flat c... OMIM:271700
Fibular Hemimelia
Fibular hypoplasia, Abnormal bone ossification, Limited knee flexion/extension, Abnormal morpholo... ORPHA:93323
Ophthalmomandibulomelic Dysplasia
Coxa valga, Temporomandibular joint ankylosis, Radioulnar dislocation, Fibular hypoplasia, Elbow ... OMIM:164900
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Joint stiffness, Fibular hyp... ORPHA:2098
Rhizomelic Chondrodysplasia Punctata, Type 5
Narrow iliac wing, Metaphyseal irregularity, Thoracic scoliosis, Irregular capital femoral epiphy... OMIM:616716
Robin Sequence-Oligodactyly Syndrome
Abnormality of the ulna, Abnormal form of the vertebral bodies, Hand oligodactyly, Clinodactyly o... ORPHA:3104
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Hypoplasia of the ulna, Short neck, Short femoral neck, Dislocated radi... OMIM:618395
Thiemann Disease, Familial Form
Brachydactyly, Abnormality of the metaphysis, Limitation of joint mobility, Abnormality of epiphy... ORPHA:3314
Omodysplasia 2
Long philtrum, Bifid nasal tip, Dislocated radial head, Rhizomelic arm shortening, Limited elbow ... OMIM:164745
Cleidorhizomelic Syndrome
Brachydactyly, Rhizomelia, Clinodactyly of the 5th finger, Diaphyseal thickening, Abnormal clavic... ORPHA:1453
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Generalized joint laxity, Scoliosis, Abnormality of femoral ep... ORPHA:750
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Kyphomelic Dysplasia
Micrognathia, Micromelia, Cleft palate, Cleft upper lip, Lateral clavicle hook, Ulnar bowing, Fla... OMIM:211350
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Atelosteogenesis, Type Ii
Coronal cleft vertebrae, Cervical kyphosis, Short greater sciatic notch, Sandal gap, Micrognathia... OMIM:256050
Acrofacial Dysostosis Syndrome Of Rodriguez
Narrow mouth, Clinodactyly, High palate, Short philtrum, Single transverse palmar crease, Fibular... OMIM:201170
3M Syndrome
Horizontal ribs, Long philtrum, Clinodactyly of the 5th finger, Everted lower lip vermilion, Micr... ORPHA:2616
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Long philtrum, Sandal gap, Clinodactyly of the 5th finger, 11 pairs of ribs, Everted lower lip ve... OMIM:617877
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Narrow mouth, Hypoplasia of the ulna, Supernumerary ribs, Fibular hypoplasia, Short... OMIM:612447
Seckel Syndrome 1
Talipes, Pes planus, Sandal gap, Clinodactyly of the 5th finger, 11 pairs of ribs, Micrognathia, ... OMIM:210600
Hypochondroplasia
Brachydactyly, Genu varum, Abnormality of pelvic girdle bone morphology, Limited elbow extension,... OMIM:146000
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Abnormality of the philtrum, Abnormal rib morp... ORPHA:3268
Mental Retardation Syndrome, Mietens-Weber Type
Dislocated radial head, Pes planus, Narrow nose, Absent proximal radial epiphyses, Forearm underg... OMIM:249600
Symbrachydactyly Of Hands And Feet
Vertebral segmentation defect, Abnormality of the ulna, Abnormality of the humeroulnar joint, Apl... ORPHA:1570
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short hu... ORPHA:2019
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Fibular hypoplasia, Metaphyseal spurs, Cone-shaped epiphysis, Hamartoma of tongu... OMIM:613091
Microphthalmia With Limb Anomalies
Fibular hypoplasia, Sandal gap, Retrognathia, Cleft palate, Short nose, Hip dislocation, High pal... OMIM:206920
Metatropic Dysplasia
Cupped ribs, Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral me... OMIM:156530
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Narrow chest, Cleft palate, Narrow mouth, Irregu... OMIM:304120
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormality of the ulna, Joint stiffness, Abnormality of ulnar metaphys... ORPHA:1040
Acrofacial Dysostosis, Rodríguez Type
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Hand oligodactyly, Abnormal form... ORPHA:1788
Multiple Synostoses Syndrome 1
Carpal synostosis, Underdeveloped nasal alae, Clinodactyly of the 5th finger, Asymmetry of the mo... OMIM:186500
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Abnormality of the ulna, Hypoplasia of the ulna, Fibular hypoplasia, ... ORPHA:2634
Atelosteogenesis Type Ii
Cervical kyphosis, Long philtrum, Sandal gap, Rhizomelic arm shortening, Micrognathia, Micromelia... ORPHA:56304
Epiphyseal Dysplasia, Multiple, 4
Brachydactyly, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Short metacarpal, ... OMIM:226900
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Brachydactyly, Narrow mouth, Abnormality of pelvic girdle bone morphology, Abnormal form of the v... ORPHA:2370
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossificatio... OMIM:609813
Liebenberg Syndrome
Brachydactyly, Radially deviated wrists, Joint contracture of the 5th finger, Metaphyseal widenin... OMIM:186550
Anauxetic Dysplasia 1
Brachydactyly, Delayed ossification of carpal bones, Short neck, Rhizomelia, Cervical subluxation... OMIM:607095
Acromicric Dysplasia
Brachydactyly, Narrow mouth, Joint stiffness, Short palm, Abnormality of epiphysis morphology, Ov... ORPHA:969
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Micrognathia, Scoliosis, Hypoplasia of the zygomatic bone, Hemi... ORPHA:958
Boomerang Dysplasia
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Abnormal bone ossif... ORPHA:1263
Spondyloepiphyseal Dysplasia Congenita
Osteoporosis, Micrognathia, Scoliosis, Genu valgum, Cleft palate, Aplasia/hypoplasia involving bo... ORPHA:94068
Cenani-Lenz Syndrome
Short thumb, High, narrow palate, Abnormal rib morphology, Micromelia, Scoliosis, Hip dislocation... ORPHA:3258
Holt-Oram Syndrome
Absent thumb, Small thenar eminence, Thoracic scoliosis, Hypoplasia of the ulna, Phocomelia, Abse... OMIM:142900
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Metaphyseal irregularity, Ovoid vertebral bodies, Short femoral neck, Hypoplasia of t... OMIM:184255
Campomelic Dysplasia
Tracheomalacia, Fibular hypoplasia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Microgn... ORPHA:140
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Flared, irregular ... OMIM:602111
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Long philtrum, Micrognathia, Ulnar deviation of the hand or of fingers of the hand, Death in infa... OMIM:602613
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foo... ORPHA:75508
Microcephaly-Micromelia Syndrome
Narrow mouth, Craniosynostosis, Short neck, Wide nose, Absent radius, Oligodactyly, Convex nasal ... OMIM:251230
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple prenatal fractures, Decreased fibular diameter, Decreased skull ossification, Micrognath... OMIM:616897
Orofaciodigital Syndrome Type 10
Long philtrum, Mesomelic leg shortening, Micrognathia, Mesomelic arm shortening, Short tibia, Sho... ORPHA:2756
Achondroplasia
Brachydactyly, Genu varum, Trident hand, Bowing of the legs, Short femoral neck, Limited hip exte... OMIM:100800
Brachydactyly, Type A1, C
Bilateral talipes equinovarus, Brachydactyly, Short middle phalanx of the 4th finger, Short middl... OMIM:615072
Carpenter Syndrome 1
Genu varum, Joint contracture of the hand, Cryptorchidism, Clinodactyly of the 5th finger, Comple... OMIM:201000
Dyggve-Melchior-Clausen Syndrome, X-Linked
Distal ulnar hypoplasia, Scoliosis, Hallux valgus, Mandibular prognathia, Genu valgum, Thoracic k... OMIM:304950
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Micrognathia, Osteolytic defects of the phalanges of the hand, Depressed... OMIM:277150
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Cervical ribs, Coxa valga, Phocomelia, Absent radius, Finger syndactyly, Clinodactyly... ORPHA:3320
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Anteverted nares, Lumbar platyspondyly, Short ribs, Thoracic platyspondyly, Square... OMIM:618961
Eiken Syndrome
Clinodactyly, Delayed ossification of carpal bones, Fibular hypoplasia, Broad femoral neck, Multi... OMIM:600002
Brachydactyly, Type A3
Clinodactyly of the 5th finger, Type A brachydactyly, Cone-shaped epiphysis, Short middle phalanx... OMIM:112700
Multiple Metaphyseal Dysplasia
Brachydactyly, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Depressed nasal... ORPHA:93430
Ulnar/Fibular Ray Defect And Brachydactyly
Brachydactyly, Toe syndactyly, Bilateral talipes equinovarus, Unilateral ulnar hypoplasia, Fibula... OMIM:608571
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Shortening of all distal phalanges of the fingers, Epiphyseal stippling, ... OMIM:619135
Langer Mesomelic Dysplasia
Bowing of the long bones, High palate, Abnormality of the ulna, Short femoral neck, Aplasia/Hypop... ORPHA:2632
Brachydactyly, Type A1
Brachydactyly, Aplasia/Hypoplasia of the middle phalanges of the toes, Thin proximal phalanges wi... OMIM:112500
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Dela... ORPHA:93307
Kyphomelic Dysplasia
Bowing of the long bones, Missing ribs, Joint stiffness, Abnormal form of the vertebral bodies, A... ORPHA:1801
Brachyolmia Type 1, Hobaek Type
Osteopenia, Short neck, Short femoral neck, Kyphosis, Intervertebral space narrowing, Back pain, ... OMIM:271530
Odontochondrodysplasia
Bowing of the long bones, Coxa valga, Square pelvis bone, Short palm, Delayed eruption of teeth, ... ORPHA:166272
Orofaciodigital Syndrome Viii
High palate, Broad nasal tip, Polydactyly, Short tibia, Bifid nasal tip, Cleft palate, Median cle... OMIM:300484
Congenital Disorder Of Glycosylation, Type Ig
Short philtrum, Rhizomelia, Sandal gap, Short ribs, Hypoplasia of the radius, Short tibia, Short ... OMIM:607143
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Amelogenesis imperfecta, Prominent deltoid tuberosities, Short neck, Short femoral neck, Rhizomel... OMIM:610319
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement OMIM:276821
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Abnormality of the vertebral column, Stillbirth, Abnormal thorax mo... ORPHA:294975
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Poland Syndrome
Unilateral brachydactyly, Short ribs, Sprengel anomaly, Hypoplasia of deltoid muscle, Unilateral ... OMIM:173800
Ulna Metaphyseal Dysplasia Syndrome
Abnormal hip bone morphology, Abnormality of the ulna, Abnormal form of the vertebral bodies, Dep... ORPHA:1837
Rhizomelic Syndrome, Urbach Type
Brachydactyly, High palate, Short neck, Kyphosis, Abnormality of epiphysis morphology, Abnormal f... ORPHA:3098
Hypochondroplasia
Brachydactyly, Genu varum, Bowing of the long bones, Abnormality of pelvic girdle bone morphology... ORPHA:429
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Joint stiffness, Talipes, Hypoplasia of the radius, Elbow dislocation, Me... ORPHA:2249
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic platyspondyly, Metaphyseal spurs, Low back pain, Pedal edema, Arthralgia of the hip, Gen... ORPHA:166011
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Coronal cleft vertebrae, Amelogenesis imperfecta, Pes planus, Micrognathia, Scoliosis, Genu valgu... OMIM:618363
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Elbo... ORPHA:2631
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Broad middle phalanx of finger, Delayed ossification of carpal bones, Clinodactyly of the 5th fin... OMIM:182255
Codas Syndrome
Coronal cleft vertebrae, Delayed ossification of carpal bones, Cryptorchidism, Crumpled ear, Squa... OMIM:600373
Pycnodysostosis
Brachydactyly, Abnormality of pelvic girdle bone morphology, Increased bone mineral density, Spon... OMIM:265800
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Brachydactyly, Abnormal palate morphology, Convex nasal ridge, Micrognathia, Long thorax, Tooth a... ORPHA:1277
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Avascular necrosis of the capital femoral epiphysis, Joint stiffness, Hip os... OMIM:132400
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the vertebral column, Broad femoral neck, Abnormality of the hand, Protrusio aceta... ORPHA:99642
Metatropic Dysplasia
Joint stiffness, Kyphosis, Abnormal enchondral ossification, Abnormal form of the vertebral bodie... ORPHA:2635
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Sclerotic... ORPHA:2790
Spondylometaphyseal Dysplasia, Kozlowski Type
Genu varum, Abnormality of the vertebral column, Abnormal ilium morphology, Coronal cleft vertebr... ORPHA:93314
Robinow Syndrome, Autosomal Recessive 1
Clinodactyly, Missing ribs, Long philtrum, Cryptorchidism, Bifid distal phalanx of toe, Micrognat... OMIM:268310
Sugarman Brachydactyly
Brachydactyly, Symphalangism affecting the proximal phalanges of the hand, Short proximal phalanx... OMIM:272150
Anauxetic Dysplasia 2
Brachydactyly, Coxa valga, Flexion contracture, Hypoplasia of the femoral head, Short femoral nec... OMIM:617396
Ruvalcaba Syndrome
Kyphosis, Short palm, Underdeveloped nasal alae, Short metacarpal, Cryptorchidism, Narrow nose, S... OMIM:180870
Atelosteogenesis Type I
Brachydactyly, Coronal cleft vertebrae, Malrotation of colon, Absent or minimally ossified verteb... ORPHA:1190
Kbg Syndrome
Clinodactyly, Thoracic kyphosis, Single transverse palmar crease, Long philtrum, Cervical ribs, U... OMIM:148050
Weill-Marchesani Syndrome 2
Shallow orbits, Broad palm, Scoliosis, Spinal canal stenosis, Ventricular septal defect, Thickene... OMIM:608328
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cupped ribs, Delayed ossification of carpal bones, Pes planus, Hypoplastic iliac wing, Mesomelic ... OMIM:609616
Atelosteogenesis, Type Iii
Cervical kyphosis, Cervical segmentation defect, Short neck, Hitchhiker thumb, Widened distal pha... OMIM:108721
Odontochondrodysplasia 1
Genu varum, Coronal cleft vertebrae, Delayed ossification of carpal bones, Long philtrum, Osteopo... OMIM:184260
Van Den Ende-Gupta Syndrome
Underdeveloped nasal alae, Narrow nose, Everted lower lip vermilion, Distal ulnar hypoplasia, Hig... OMIM:600920
Robin Sequence With Cleft Mandible And Limb Anomalies
Bifid uvula, Cleft mandible, Fibular hypoplasia, Clinodactyly of the 5th finger, Short thumb, Cle... OMIM:268305
Acrocapitofemoral Dysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Short palm, Flare... ORPHA:63446
Acromicric Dysplasia
Narrow mouth, Ovoid vertebral bodies, Short palm, Long philtrum, Bulbous nose, Short metacarpal, ... OMIM:102370
Autosomal Dominant Omodysplasia
Short palm, Long philtrum, Rhizomelia, Elbow dislocation, Micrognathia, Patellar dislocation, Dep... ORPHA:93328
Symphalangism With Multiple Anomalies Of Hands And Feet
Brachydactyly, Small thenar eminence, Small hypothenar eminence, Finger symphalangism, Symphalang... ORPHA:3246
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Micrognathia, Hypoplastic iliac wing, Short toe, Ha... OMIM:609945
Stuve-Wiedemann Syndrome 1
Talipes, Smooth tongue, Osteoporosis, Micrognathia, Scoliosis, Short tibia, Wide nasal base, Shor... OMIM:601559
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Cupped ribs, Metaphyseal irregularity, Hypoplastic inferior ilia, Joint stiffness,... OMIM:608940
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Long philtrum, Radial club hand, Aplasia/Hypoplasia of the thumb, Deep ph... ORPHA:2878
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Long philtrum, Hypoplasia of the premaxilla, Fibular hypoplasia, Sanda... ORPHA:1106
Pseudoachondroplasia
Genu varum, Flared femoral metaphysis, Scoliosis, Irregular carpal bones, Metaphyseal widening, F... OMIM:177170
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Bowing of the long bones, Cone-shaped metacarpal epiphyses, Coxa valga... ORPHA:1240
Mental Retardation, X-Linked 91
Clinodactyly, High palate, Short 5th finger, Short nose, Cubitus valgus, Small hand, Macrodontia,... OMIM:300577
Brachymesomelia-Renal Syndrome
Single transverse palmar crease, Fibular hypoplasia, Hypoplasia of the radius, Micrognathia, Ulna... OMIM:113470
Osteofibrous Dysplasia, Susceptibility To
Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Heart-Hand Syndrome Type 2
Brachydactyly, Abnormality of the ulna, Abnormal palate morphology, Short 5th metacarpal, Joint s... ORPHA:1350
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Upper limb asymmetry, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Clinodactyly of the 5t... ORPHA:2141
Multiple Synostoses Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Joint stiffness, Short palm, Co... ORPHA:3237
Acromesomelic Dysplasia 2B
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... OMIM:228900
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Hypoplasia of the ulna, Finger syndactyly, Aplasia... ORPHA:2256
Maxillonasal Dysplasia, Binder Type
Vertebral clefting, Short distal phalanx of finger, Depressed nasal bridge, Patchy distortion of ... OMIM:155050
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Clinodactyly, Hypoplasia of the ulna, Long philtrum, Everted lower lip vermilion, Thick nasal ala... ORPHA:357175
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Postaxial oligodactyly, Short 5th finger, Aplasi... ORPHA:52056
Familial Digital Arthropathy-Brachydactyly
Brachydactyly, Shortening of all middle phalanges of the toes, Osteoarthritis of the small joints... ORPHA:85169
Intellectual Developmental Disorder, Autosomal Recessive 35
Clinodactyly, Hypoplasia of the ulna, Long philtrum, Everted lower lip vermilion, Thick nasal ala... OMIM:615162
Brachydactyly Type A2
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short... ORPHA:93396
Desbuquois Dysplasia 1
Genu varum, Long philtrum, Broad first metatarsal, Pes planus, Sandal gap, Broad femoral neck, Os... OMIM:251450
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Weill-Marchesani Syndrome 1
Shallow orbits, Broad palm, Scoliosis, Spinal canal stenosis, Ventricular septal defect, Tooth ma... OMIM:277600
Fibular Aplasia-Complex Brachydactyly Syndrome
Brachydactyly, Abnormal hip bone morphology, Abnormal thumb morphology, Synostosis of carpal bone... ORPHA:2639
Mesomelic Dysplasia, Savarirayan Type
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... ORPHA:85170
Schneckenbecken Dysplasia
Short neck, Advanced tarsal ossification, Hypoplastic vertebral bodies, Fibular hypoplasia, Abnor... ORPHA:3144
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Brachydactyly, Rhizomelia, Hypoplastic scapulae, Micrognathia, Micromelia, Dumbbell-shaped long b... ORPHA:440354
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Short long bo... OMIM:250460
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial dysplasia, Hypoplasia of the radius, Distal ulnar hypoplasia, Meso... OMIM:191440
Cousin Syndrome
Clinodactyly of the 5th finger, Micrognathia, Hypoplastic iliac wing, Cleft palate, Hypoplastic p... OMIM:260660
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Irregularity of vertebral bodies, Short femoral neck, Flared femoral metaphysis, Broad femoral ne... OMIM:609324
Cardiospondylocarpofacial Syndrome
Brachydactyly, Carpal synostosis, Long philtrum, Joint laxity, Cone-shaped epiphysis, Wide nasal ... OMIM:157800
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Genu varum, Decreased hip abduction, Short femoral neck, Flared iliac wing, Flared humeral metaph... OMIM:183849
Short Rib-Polydactyly Syndrome
Horizontal ribs, Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, C... ORPHA:1505
Ivic Syndrome
Small thenar eminence, Carpal synostosis, Short thumb, Scoliosis, Hypoplasia of deltoid muscle, S... OMIM:147750
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Pseudoarthrosis, Short tibia OMIM:156230
Acrocephalopolydactyly
Brachydactyly, Short neck, Depressed nasal ridge, Genu recurvatum, Limb undergrowth, Short long b... ORPHA:221054
Brachydactyly, Type A4
Talipes calcaneovalgus, Type A brachydactyly, Congenital talipes calcaneovalgus, Short middle pha... OMIM:112800
Campomelic Dysplasia
Narrow iliac wing, Absent sternal ossification, Tracheomalacia, Long philtrum, Fibular hypoplasia... OMIM:114290
Becker Nevus Syndrome
Supernumerary ribs, Kyphosis, Upper limb asymmetry, Pectus excavatum, Micromelia, Scoliosis, Abno... ORPHA:64755
Coloboma Of Macula-Brachydactyly Type B Syndrome
Type B brachydactyly, Camptodactyly of finger, Short distal phalanx of finger, Broad thumb ORPHA:1471
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Postaxial hand polydactyly, Short humerus, Aplasia/Hypoplasia of the ulna, Abnormalit... ORPHA:2491
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot OMIM:313350
Ulnar Hemimelia
Carpal synostosis, Curved toe phalanx, Radial club hand, Short forearm, Scoliosis, Aplasia of met... ORPHA:93320
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pes planus, Broad palm, Osteoporosis, Abnormal rib morphology, Micromelia, Genu valgum, Synostosi... ORPHA:93351
Tetrasomy X
Brachydactyly, Clinodactyly of the 5th finger, Radioulnar synostosis, Abnormality of the dentitio... ORPHA:9
Hall-Riggs Mental Retardation Syndrome
Brachydactyly, Kyphosis, Enamel hypoplasia, U-Shaped upper lip vermilion, Osteoporosis, Microdont... OMIM:234250
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Clinodactyly, Kyphosis, Trichiasis, Sparse eyebrow, Hypospadias, Micrognathia, Pectus excavatum, ... OMIM:609944
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Short metacarpal, Rhizomelia, Broad palm, Postaxial hand polydactyly, Narrow chest... OMIM:611263
Brachydactyly, Type A1, B
Clinodactyly, Short 5th metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Type A br... OMIM:607004
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Decreased calvarial ossification, Fibular hypoplasia, Esophageal diverticulum, M... OMIM:617925
Tibial Torsion, Bilateral Medial
Tibial torsion, Bowing of the legs, Scoliosis, Abnormality of tibia morphology OMIM:188800
Thoracomelic Dysplasia
Abnormality of pelvic girdle bone morphology, Short neck, Short ribs, Abnormality of fibula morph... ORPHA:1803
Mietens Syndrome
Hypoplasia of the ulna, Coxa valga, Joint stiffness, Talipes, Wide nose, Clinodactyly of the 5th ... ORPHA:2557
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Short distal phalanx of toe, Short middle phalanx of toe, Short distal ph... OMIM:606835
Maxillonasal Dysplasia
Vertebral clefting, Open bite, Depressed nasal ridge, Short columella, Aplasia/Hypoplasia of the ... ORPHA:1248
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Vertebral hypoplasia, Short neck, Short femoral neck, Short... OMIM:602557
Autosomal Recessive Robinow Syndrome
Abnormal hip bone morphology, Long philtrum, Open bite, Cryptorchidism, Sandal gap, Clinodactyly ... ORPHA:1507
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Narrow mouth, High palate, Flexion contracture, Scapulohumeral synostosis, Dislocated radial head... OMIM:602471
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Flat capital femoral epiphysis, High palate, Wide capital femoral epiphyses, Patellar hypoplasia,... OMIM:147891
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Metaphyseal irregularity, Hypoplastic pubic bone, Anterior rib cupping, Pes planus... OMIM:184250
Brachydactyly Type A7
Short 2nd finger, Ulnar deviation of the 2nd finger, Absent middle phalanx of 2nd finger, Triangu... ORPHA:93397
Pelviscapular Dysplasia
Brachydactyly, Abnormality of the joint spaces of the elbow, Short neck, Mesomelic leg shortening... ORPHA:93333
Brachydactyly, Type D
Broad distal phalanx of the thumb, Type D brachydactyly, Broad distal phalanx of the hallux OMIM:113200
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Narrow iliac wing, Bowing of the legs, Hypoplastic pubic bone, Ovoid vertebr... OMIM:608728
Pde4D Haploinsufficiency Syndrome
Cryptorchidism, Cone-shaped epiphysis, Micrognathia, Ptosis, Short toe, Mandibular prognathia, Na... ORPHA:439822
Greenberg Dysplasia
Brachydactyly, Anterior rib punctate calcifications, Abnormal pelvis bone ossification, Abnormal ... ORPHA:1426
Atelosteogenesis Type Iii
Coronal cleft vertebrae, Vertebral hypoplasia, Epiphyseal stippling of the humerus, Micrognathia,... ORPHA:56305
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Vertebral clefting, Long philtrum, Clinodactyly of the 5th finger, Microcephaly, Thin upper lip v... OMIM:614701
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... OMIM:609441
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Brachydactyly, Joint stiffness, Short greater sciatic notch, Kyphosis, ... ORPHA:1860
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Long philtrum, Abnormal bone ossification, Micrognathia, Delayed patellar ossification, Narrow ch... ORPHA:163649
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Shoulder dislocation, Coronal cleft vertebrae, Long philtrum, Pes planus, Widely spaced teeth, Na... OMIM:143095
Autosomal Recessive Spondylocostal Dysostosis
Prominent occiput, Long philtrum, Camptodactyly of finger, Abnormal morphology of female internal... ORPHA:2311
Kinsship Syndrome
Fibular hypoplasia, Pes planus, Widely spaced teeth, Micrognathia, Scoliosis, Mandibular prognath... OMIM:619297
Otospondylomegaepiphyseal Dysplasia
Coronal cleft vertebrae, Abnormal pelvis bone morphology, Bifid uvula, Sandal gap, Flared femoral... ORPHA:1427
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Split foot, Hypoplasia of the ulna, Short finger, Syndactyly OMIM:314360
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Bifid uvula, Broad femoral neck, Tapered finger, Flat capital femoral epiphysis, High palate, Bru... OMIM:612350
17Q21.31 Microduplication Syndrome
Toe syndactyly, High palate, Short philtrum, Sandal gap, Clinodactyly of the 5th finger, Microgna... ORPHA:217340
Cataract 35
Cataract OMIM:609376
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Cataract 36
Cataract OMIM:613887
Sandestig-Stefanova Syndrome
Clinodactyly, High palate, Trigonocephaly, Underdeveloped tragus, Intrauterine growth retardation... OMIM:618804
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Abnormal foot morphology, Abnormal thorax morphology, Fibular aplasia, Sh... OMIM:605274
Robinow Syndrome, Autosomal Dominant 2
Clinodactyly, Long philtrum, Cryptorchidism, Micrognathia, Thin upper lip vermilion, Macrocephaly... OMIM:616331
Osteoglophonic Dysplasia
Shallow orbits, Chordee, Cryptorchidism, Broad palm, Pseudoarthrosis, Inguinal hernia, Mandibular... OMIM:166250
Cono-Spondylar Dysplasia
Brachydactyly, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges of the hand, Scoliosi... ORPHA:420794
Brachydactyly, Type A2
Short 2nd finger, Ulnar deviation of the 2nd finger, 2-3 toe syndactyly, Medially deviated second... OMIM:112600
Epiphyseal Dysplasia, Multiple, 7
Advanced ossification of carpal bones, Genu varum, Short femoral neck, Vertebral wedging, Platysp... OMIM:617719
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Eng-Strom Syndrome
Brachydactyly, Pectus excavatum, Scoliosis, Camptodactyly of finger, Arthritis ORPHA:1937
Trichorhinophalangeal Syndrome, Type Iii
Brachydactyly, Coxa magna, Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia,... OMIM:190351
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Pallister W Syndrome
Clinodactyly, Broad nasal tip, Hypoplasia of the ulna, Broad uvula, Pes planus, Agenesis of centr... OMIM:311450
Metaphyseal Anadysplasia 2
Metaphyseal widening, Bowing of the legs, Metaphyseal irregularity, Short femoral neck OMIM:613073
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Bowing of the legs, Pectus excavatum, Limited elbow extension, Lumbar hyperlordosis, Limb undergr... ORPHA:156728
Alagille Syndrome
Long nose, Cryptorchidism, Clinodactyly of the 5th finger, Micrognathia, Abnormal rib morphology,... ORPHA:52
Robinow Syndrome
Acromesomelia, Broad nasal tip, Missing ribs, Long philtrum, Tricuspid atresia, Cryptorchidism, M... ORPHA:97360
Syndactyly, Type Iv
6 metacarpals, 2-3 toe syndactyly, Triphalangeal thumb, Supernumerary metacarpal bones, Polydacty... OMIM:186200
Greenberg Dysplasia
Hypoplastic vertebral bodies, Multiple prenatal fractures, 11 pairs of ribs, Broad palm, Decrease... OMIM:215140
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Broad nasal tip, Cone-shaped capital femoral epiphysis, Broad palm, Metaphyseal widening, Brachyd... OMIM:300232
Autosomal Recessive Multiple Pterygium Syndrome
Pterygium, Long philtrum, Cryptorchidism, Abnormal aortic valve morphology, Micrognathia, Abnorma... ORPHA:2990
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Kyphosis, Abnorm... ORPHA:3344
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Clinodactyly, Cutaneous syndactyly, Wide nasal bridge, Abnormal vertebral morphology, Pectus exca... ORPHA:166024
Juberg-Hayward Syndrome
Toe syndactyly, Wide nose, Hammertoe, Short thumb, Hypoplasia of the radius, Abnormal vertebral m... ORPHA:2319
Mueller-Weiss Syndrome
Limitation of movement at ankles, Fragmented, irregular epiphyses, Joint stiffness, Sclerosis of ... ORPHA:566943
Diastrophic Dysplasia
Micrognathia, Abnormal rib morphology, Micromelia, Scoliosis, Hip dysplasia, Cleft palate, Bowing... ORPHA:628
Fetal Trimethadione Syndrome
High palate, Tetralogy of Fallot, Intrauterine growth retardation, Low-set ears, Abnormal helix m... ORPHA:1913
Brachydactyly-Syndactyly Syndrome
Brachydactyly, Finger syndactyly, Oligodactyly, Short phalanx of finger, Short digit, Camptodacty... OMIM:610713
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped metacarpal epiphyses, Delayed ossification of carpal bones, Prominent styloid process... OMIM:300106
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Brachydactyly, Narrow chest, Lateral clavicle hook, Polydactyly OMIM:617405
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Genu varum, Fragmentation of the metacarpal epiphyses, Abnormality of epiphysis morphology, Radia... ORPHA:166002
Coffin-Lowry Syndrome
Narrow iliac wing, Abnormal mitral valve morphology, Tapered finger, Everted lower lip vermilion,... ORPHA:192
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Micrognathia, Neonatal death, Mesomelia, Syndactyly OMIM:228940
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
High palate, Hypoplasia of the ulna, Osteopenia, Long philtrum, Open mouth, Deep philtrum, Osteop... OMIM:615398
Aase-Smith Syndrome
Slender finger, Abnormal hip bone morphology, Joint stiffness, Multiple joint contractures, Trism... ORPHA:916
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short 5th metacarpal, Convex nasal ridge, Platyspondyly, Flared metaphysis, Short middle phalanx ... OMIM:156510
8P23.1 Microdeletion Syndrome
Cryptorchidism, Tapered finger, Micrognathia, Microcephaly, Hypoplastic left heart, Enlarged thor... ORPHA:251071
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Depressed nasal ridge, Rhizomelia, Metaphyseal cupping of proximal phalanges, 11 pairs of ribs, T... OMIM:300863
Hhhh Syndrome
Hemiatrophy OMIM:306960
Brachydactyly-Distal Symphalangism Syndrome
Single transverse palmar crease, Type A1 brachydactyly, Aplasia of the middle phalanx of the hand... OMIM:113450
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Thoracic pla... ORPHA:457395
Metaphyseal Chondrodysplasia, Spahr Type
Bowing of the long bones, Genu varum, Abnormality of epiphysis morphology, Abnormality of the den... ORPHA:2501
Long-Thumb Brachydactyly Syndrome
Brachydactyly, Short finger, Long thumb OMIM:112430
Aarskog-Scott Syndrome
Long philtrum, Cryptorchidism, Clinodactyly of the 5th finger, Broad palm, Everted lower lip verm... ORPHA:915
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Hip osteoarthritis, Brachytelomesophalangy, Knee osteoarthritis, Limitation of joint ... ORPHA:2619
Mesomelic Dysplasia, Kantaputra Type
Synostosis of carpal bones, Vertebral segmentation defect, Talipes, Clinodactyly of the 5th finge... ORPHA:1836
Camptodactyly Syndrome, Guadalajara, Type I
Bifid uvula, Fibular hypoplasia, Abnormality of dental eruption, Twelfth rib hypoplasia, Hypoplas... OMIM:211910
Acrorenal-Mandibular Syndrome
Missing ribs, Foot polydactyly, Micrognathia, Narrow chest, Hemivertebrae, Hip dislocation, High ... OMIM:200980
Acheiropodia
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... ORPHA:931
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormality of the vertebral column, Absent radius, Tracheoesophageal fistula, Hand polydactyly, ... OMIM:314390
Achondrogenesis, Type Ia
Hypoplastic ischia, Short neck, Short ribs, Hypoplastic scapulae, Hypoplasia of the radius, Decre... OMIM:200600
Diastrophic Dysplasia
Irregular epiphyses, Flattened epiphysis, Cervical kyphosis, Kyphoscoliosis, Hypoplastic cervical... OMIM:222600
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Bowing of the arm, Mesomelic leg shortening, Micrognathia, Mesomelic arm shor... OMIM:249710
Orofaciodigital Syndrome Xviii
Brachydactyly, Accessory oral frenulum, Short philtrum, Cervical ribs, Single transverse palmar c... OMIM:617927
Acromesomelic Dysplasia 4
Genu varum, Prominent deltoid tuberosities, Sandal gap, Thoracic platyspondyly, Short toe, Mandib... OMIM:619636
Schneckenbecken Dysplasia
Brachydactyly, Advanced ossification of carpal bones, Metaphyseal irregularity, Anterior rib cupp... OMIM:269250
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Upslanted palpebral fissure, Anterior scalloping of vertebral bodies, Curly eyelashes, Hypoplasti... OMIM:611717
Syndactyly Type 5
3-4 finger syndactyly, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Short distal phalanx o... ORPHA:93406
Synpolydactyly 1
Short middle phalanx of the 5th finger, 4-5 toe syndactyly, 6 metacarpals, Postaxial foot polydac... OMIM:186000
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Cleft upper lip, Conical tooth, Supernumerary vertebrae, Abnormal foot mo... OMIM:263750
Dysspondyloenchondromatosis
Multiple enchondromatosis, Abnormality of ulnar metaphysis, Abnormality of fibula morphology, Gen... ORPHA:85198
Dyssegmental Dysplasia With Glaucoma
Delayed epiphyseal ossification, Platyspondyly, Micromelia, Flared metaphysis, Wide anterior font... OMIM:601561
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Short philtrum, Short neck, Abnormality of epiphysis morphology, Rhizom... ORPHA:93267
W Syndrome
Clinodactyly, Broad nasal tip, Hypoplasia of the ulna, Broad uvula, Upper lip pit, Pes planus, El... ORPHA:2804
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Clinodactyly of the 5th finger, Tapered finger, Micrognathia, Short distal... OMIM:311895
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Narrow chest, Abnormal rib morphology, Mesomelic... ORPHA:1354
Meier-Gorlin Syndrome 6
Underdeveloped nasal alae, Cryptorchidism, Sandal gap, Decreased response to growth hormone stimu... OMIM:616835
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Convex nasal ridge, Oral cleft, Lower limb undergrowth, Forearm undergrowth OMIM:218650
Acromesomelic Dysplasia 1
Lower thoracic kyphosis, Acromesomelia, Short toe, Short nose, Ovoid vertebral bodies, Cone-shape... OMIM:602875
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Micrognathia, Scoliosis, Hip dysplasia, Cleft palate, Hip dislocation, Long upper lip, High palat... ORPHA:93359
Acrocraniofacial Dysostosis
Abnormal hip bone morphology, Tapered finger, Micrognathia, Ptosis, Short 1st metacarpal, Telecan... ORPHA:949
Metaphyseal Chondrodysplasia, Kaitila Type
Finger joint hypermobility, Metaphyseal irregularity, Delayed proximal femoral epiphyseal ossific... OMIM:250230
Omodysplasia 1
Short neck, Long philtrum, Fibular hypoplasia, Rhizomelia, Increased fibular diameter, Limited kn... OMIM:258315
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Type A brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, Joint stiffness ORPHA:1078
Cranioectodermal Dysplasia 1
Clinodactyly, Fibular hypoplasia, Everted lower lip vermilion, Osteoporosis, Widely spaced teeth,... OMIM:218330
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Tracheomalacia, Fibular hypoplasia, Craniofacial osteosclerosis, Clinodactyly of the... OMIM:300373
Paget Disease Of Bone 5, Juvenile-Onset
Bowing of the long bones, Osteopenia, Increased bone mineral density, Recurrent fractures, Kyphos... OMIM:239000
Baller-Gerold Syndrome
Carpal synostosis, Bifid uvula, Underdeveloped nasal alae, Micrognathia, Carpal bone aplasia, Sco... OMIM:218600
Ruvalcaba Syndrome
Cryptorchidism, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Ptosis, Micromelia, Inguin... ORPHA:3121
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Cervical C2/C3 vertebral fusion, Broad nasal tip, Short 5th metacarpal, Single tra... ORPHA:370010
Brachydactyly, Type A2, With Microcephaly
Clinodactyly of the 2nd toe, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous... OMIM:211369
Shox-Related Short Stature
High palate, Short neck, Ulnar radial head dislocation, Tibial bowing, Madelung deformity, Microg... ORPHA:314795
Paternal Uniparental Disomy Of Chromosome X
Infertility, Short neck, Short metacarpal, Micropenis, Shield chest, Cubitus valgus, Decreased te... ORPHA:261524
Dyggve-Melchior-Clausen Disease
Genu varum, Pes planus, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Broad palm, Hy... OMIM:223800
Catel-Manzke Syndrome
Joint stiffness, Metatarsus valgus, Abnormality of epiphysis morphology, Clinodactyly of the 5th ... ORPHA:1388
Spondylometaphyseal Dysplasia, A4 Type
Short palm, Platyspondyly, Micromelia, Flared, irregular rib ends, Limitation of joint mobility, ... ORPHA:168555
Chondrodysplasia With Joint Dislocations, Gpapp Type
Brachydactyly, Narrow mouth, Coronal craniosynostosis, Short metacarpal, Wide nasal bridge, Micro... OMIM:614078
Hypertension And Brachydactyly Syndrome
Brachydactyly, Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger OMIM:112410
Melnick-Needles Syndrome
Pes planus, Micrognathia, Anterior concavity of thoracic vertebrae, Narrow chest, Genu valgum, Cl... OMIM:309350
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Hypoplasia of the ulna, Split foot, Aplasia/Hypoplasia of the radius ORPHA:1122
Palant Cleft Palate Syndrome
Contracture of the proximal interphalangeal joint of the 5th finger, Exaggerated cupid's bow, Sho... OMIM:260150
Orofaciodigital Syndrome Iv
Brachydactyly, Clinodactyly, Toe syndactyly, Accessory oral frenulum, Foot polydactyly, High pala... OMIM:258860
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Overlapping fingers, Short hallux, Short thumb, Broad hallux, Pectus excavatum, Ad... OMIM:618167
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ischia, Hypoplastic pubic bone, Short neck, Short ribs, Thin ribs, Narrow chest, Decr... OMIM:151210
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Brachydactyly, Irregular epiphyses, Metaphyseal irregularity, Hypoplasia of the ulna, Foot polyda... OMIM:208500
Trisomy 4P
Abnormal palate morphology, Short neck, Abnormality of the dentition, Radial club hand, Carious t... ORPHA:1738
Anauxetic Dysplasia 3
Brachydactyly, Broad middle phalanx of finger, Trident hand, Thoracolumbar kyphoscoliosis, Short ... OMIM:618853
Acromesomelic Dysplasia, Hunter-Thompson Type
Brachydactyly, Acromesomelia, Abnormality of pelvic girdle bone morphology, Joint stiffness, Shor... ORPHA:968
Acheiropody
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
Chst3-Related Skeletal Dysplasia
Brachydactyly, Irregular epiphyses, Flexion contracture, Abnormal form of the vertebral bodies, L... ORPHA:263463
Brachydactyly-Preaxial Hallux Varus Syndrome
Brachydactyly, Abnormal palate morphology, Radial club hand, Short metacarpal, Wide nasal bridge,... ORPHA:1278
Femoral-Facial Syndrome
Missing ribs, Long philtrum, Underdeveloped nasal alae, Micrognathia, Scoliosis, Thin upper lip v... OMIM:134780
Acrodysostosis 2 With Or Without Hormone Resistance
Accelerated skeletal maturation, Brachydactyly, Short metacarpal, Cryptorchidism, Cone-shaped epi... OMIM:614613
Otoonychoperoneal Syndrome
Aplasia/Hypoplasia of the fibula, Ankle flexion contracture, Knee flexion contracture, Hip contra... OMIM:259780
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Decreased calvarial ossification, Missing ribs, Single transve... OMIM:617866
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Leri Pleonosteosis
Brachydactyly, Abnormally straight spine, Joint stiffness, Abnormal form of the vertebral bodies,... ORPHA:2900
Gombo Syndrome
Brachydactyly, Clinodactyly, Radial deviation of finger OMIM:233270
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Long foot, 11 pairs of ribs, Micrognathia, Micromelia, Large hands, Hip dislocation, Brachydactyl... OMIM:210710
Otopalatodigital Syndrome Type 2
Carpal synostosis, Short thumb, Micrognathia, Abnormal rib morphology, Scoliosis, Narrow chest, C... ORPHA:90652
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Multiple Pterygium Syndrome, Escobar Variant
Cryptorchidism, Micrognathia, Ptosis, Inguinal hernia, Scoliosis, Dysplastic patella, Camptodacty... OMIM:265000
Martsolf Syndrome 1
Broad nasal tip, Tracheomalacia, Cryptorchidism, Broad fingertip, Micrognathia, Microcephaly, Sho... OMIM:212720
Camptodactyly Syndrome, Guadalajara, Type Ii
Brachydactyly, Single transverse palmar crease, Patellar hypoplasia, Osteopenia, Short neck, Long... OMIM:211920
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Gordon Syndrome
High palate, Finger syndactyly, Talipes, Clinodactyly of the 5th finger, Pectus excavatum, Scolio... ORPHA:376
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Brachydactyly, Bowing of the legs, Platyspondyly, Lower limb undergrowth, Irregular vertebral end... OMIM:612847
Neu-Laxova Syndrome 2
High palate, Short neck, Depressed nasal ridge, Rocker bottom foot, Micrognathia, Scoliosis, Clef... OMIM:616038
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Foot oligodactyly, Scoliosis, Bilateral cleft lip and palate, Short femur, Amelia OMIM:601357
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Long philtrum, Enlarged thorax, Broad long bones, Abnormal metatarsal morphology, Brachydactyly, ... ORPHA:163654
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Brachydactyly, Kyphosis, Delayed ossification of carpal bones, Pectus carinatum OMIM:618392
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... OMIM:619217
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Brachydactyly, Type B1
Short long bone, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Join... OMIM:113000
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachydactyly, Abnormal thumb morphology, Short palm, Cone-shaped epiphysis, Unilateral cleft lip... ORPHA:2511
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Metaphyseal sclerosis, Broad femoral neck, Distal tibial bowing, Scoliosis, Metaphyse... OMIM:156500
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Brachydactyly, Short thorax, Low-set ears, Dolichocephaly, Cone-shaped epiphyses of the phalanges... OMIM:617102
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Micrognathia, Syndactyly OMIM:212780
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short philtrum, Short palm, Depressed nasal ridge, Rhizomelia, Thin ribs, Metaphyseal chondrodysp... ORPHA:163966
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Penile hypospadias, Slender long bone, Abnormal form of the vertebral bodies, Shallow orbits, Gen... ORPHA:73230
Achondroplasia
Hip joint hypermobility, Spinal canal stenosis, Narrow greater sciatic notch, Brachydactyly, Bowi... ORPHA:15
Codas Syndrome
Coronal cleft vertebrae, Crumpled ear, Scoliosis, Ventricular septal defect, Midline defect of th... ORPHA:1458
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Abnormal form of the vert... ORPHA:1802
Diamond-Blackfan Anemia 11
Absent thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis, Forearm re... OMIM:614900
Spondyloepimetaphyseal Dysplasia, Irapa Type
Enlargement of the costochondral junction, Hypoplastic sacrum, Short palm, Short metacarpal, Uppe... OMIM:271650
Phocomelia, Schinzel Type
Talipes, Micrognathia, High, narrow palate, Micromelia, Aplasia of the ulna, Cleft palate, Short ... ORPHA:2879
Cranioectodermal Dysplasia
Brachydactyly, Craniosynostosis, Finger syndactyly, Rhizomelia, Clinodactyly of the 5th finger, H... ORPHA:1515
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Coronal cleft vertebrae, Micrognathia, Cleft palate, Pierre-Robin sequence, Recurrent pneumonia, ... OMIM:215150
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent frontal sinuses, Clinodactyly of the 5th finger, Micrognathia, Microcephaly, Scoliosis,... OMIM:170390
Acrodysostosis 1 With Or Without Hormone Resistance
Broad nasal tip, Irregular menstruation, Hypoplastic vertebral bodies, Cryptorchidism, Broad palm... OMIM:101800
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Widely-spaced incisors, Narrow iliac wing, Slender finger, Flattened epiphysis, Metaphyseal irreg... OMIM:601668
Fibular Aplasia-Ectrodactyly Syndrome
Abnormality of the ulna, Split hand, Aplasia/Hypoplasia of the fibula ORPHA:1118
Orofaciodigital Syndrome Ix
Accessory oral frenulum, Toe syndactyly, High palate, Broad nasal tip, Hand polydactyly, Short ti... OMIM:258865
Simpson-Golabi-Behmel Syndrome, Type 2
Clinodactyly, High palate, Recurrent upper respiratory tract infections, Single transverse palmar... OMIM:300209
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Bowing of the long bones, Hypoplastic frontal sinuses, Short palm, In... ORPHA:90650
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankles, Hip dysplasi... ORPHA:93322
Fibrochondrogenesis 2
Hypoplastic ischia, Hypoplastic pubic bone, Short ribs, Metaphyseal cupping, Platyspondyly, Micro... OMIM:614524
Cutis Laxa, Autosomal Recessive, Type Iid
Bulbous nose, Micropenis, Blepharophimosis, Wide nasal bridge, Downslanted palpebral fissures, In... OMIM:617403
Autosomal Recessive Omodysplasia
Craniosynostosis, Long philtrum, Rhizomelia, Elbow dislocation, Micrognathia, Micromelia, Abnorma... ORPHA:93329
Kniest Dysplasia
Coronal cleft vertebrae, Recurrent otitis media, Tracheomalacia, Flattened, squared-off epiphyses... OMIM:156550
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Brachydactyly Type C
Symphalangism affecting the phalanges of the hand, Metatarsus valgus, Pseudoepiphysis of the 2nd ... ORPHA:93384
Nicolaides-Baraitser Syndrome
Brachydactyly, Unilateral narrow palpebral fissure, Anteverted nares, Short metacarpal, Sandal ga... OMIM:601358
Arthrogryposis, Distal, Type 3
Distal arthrogryposis, Cryptorchidism, Micrognathia, Ptosis, Abnormal rib cage morphology, Ulnar ... OMIM:114300
Mesomelic Dysplasia, Nievergelt Type
Genu varum, Abnormality of the ulna, Finger syndactyly, Camptodactyly of finger, Bilateral single... ORPHA:2633
Thanatophoric Dysplasia, Type Ii
Brachydactyly, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Neonatal death,... OMIM:187601
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Brachydactyly, Vaginal hernia, Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic verte... ORPHA:2916
Arthrogryposis, Distal, Type 1C
Bifid uvula, Clinodactyly of the 5th finger, Scoliosis, Camptodactyly of toe, Retrognathia, Cleft... OMIM:619110
Epiphyseal Dysplasia, Multiple, 6
Flat capital femoral epiphysis, Irregular epiphyses, Irregular distal femoral epiphysis, Osteoart... OMIM:614135
Wiedemann-Rautenstrauch Syndrome
Upslanted palpebral fissure, Cryptorchidism, Micrognathia, Scoliosis, Large hands, Flexion contra... OMIM:264090
Achondrogenesis Type 1A
Short neck, Short palm, Abnormal enchondral ossification, Recurrent fractures, Long philtrum, Sho... ORPHA:93299
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal ilium morphology, Restricted large joint movement, Bilateral coxa valga, Abnormal verteb... ORPHA:163665
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Pe... ORPHA:93356
Otopalatodigital Syndrome, Type I
Prominent occiput, Sandal gap, Abnormality of the fifth metatarsal bone, Bulbous tips of toes, Sc... OMIM:311300
Arms, Malformation Of
Radioulnar synostosis, Hypoplasia of the ulna, Hypoplasia of the radius OMIM:107900
Boomerang Dysplasia
Hypoplastic nasal septum, Absent radius, Underdeveloped nasal alae, Wide nasal bridge, Fibular ap... OMIM:112310
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Missing ribs, Short neck, Short thorax, Hyperlordosis, Posterior rib ... ORPHA:1797
Cleidocranial Dysplasia
Abnormal thumb morphology, Open bite, Clinodactyly of the 5th finger, Tapered finger, Osteoporosi... ORPHA:1452
Steinfeld Syndrome
Abnormality of the vertebral column, Hypoplasia of the ulna, Missing ribs, Phocomelia, Bifid uvul... OMIM:184705
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Brachydactyly, Short 2nd toe, Postaxial hand polydactyly, Short thumb OMIM:176305
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Abnormality of dental eruption, Hallux valgus, Short toe, Mandibular prognathia, Narro... ORPHA:1327
Multiple Osteochondromas
Limitation of knee mobility, Abnormal pelvis bone morphology, Deformed radius, Abnormal morpholog... ORPHA:321
Duane-Radial Ray Syndrome
Small thenar eminence, Pes planus, Sandal gap, Short thumb, Scoliosis, Aplasia of metacarpal bone... OMIM:607323
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Clinodactyly, Cryptorchidism, Tapered finger, Macroglossia, Microcephaly, Ventricular septal defe... OMIM:301040
C Syndrome
Clinodactyly, Upslanted palpebral fissure, Cryptorchidism, Micrognathia, Micromelia, Scoliosis, E... OMIM:211750
Mesomelia-Synostoses Syndrome
Long philtrum, Clinodactyly of the 5th finger, Micrognathia, High, narrow palate, Micromelia, Abn... ORPHA:2496
Occipital Horn Syndrome
Long philtrum, Pes planus, Osteoporosis, Broad clavicles, Narrow chest, Genu valgum, High palate,... OMIM:304150
Brachydactyly-Arterial Hypertension Syndrome
Brachydactyly, Short metacarpal, Short phalanx of finger ORPHA:1276
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Brachydactyly, Kyphosis, Hypoplastic iliac wing, Short distal phalanx of finger, Scoliosis, Mandi... ORPHA:1858
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Intestinal malrotation, Abnormality of fibula morphology, Tibial bowing... ORPHA:3035
Achondrogenesis Type 1B
Short neck, Long philtrum, Abnormal enchondral ossification, Short thorax, Micrognathia, Abnormal... ORPHA:93298
Kbg Syndrome
Long philtrum, Underdeveloped nasal alae, Cryptorchidism, Congenital malformation of the left hea... ORPHA:2332
Hall-Riggs Syndrome
Brachydactyly, Joint stiffness, Delayed eruption of teeth, Abnormality of epiphysis morphology, W... ORPHA:2107
Urban-Rogers-Meyer Syndrome
Brachydactyly, Toe syndactyly, Upslanted palpebral fissure, Short neck, Kyphosis, Recurrent fract... ORPHA:3409
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Chondroectodermal Dysplasia With Night Blindness
Fractures of the long bones, Metaphyseal irregularity, Epiphora, Osteopenia, Osteoporosis, Platys... ORPHA:319195
Chromosome 16P13.3 Duplication Syndrome
Bulbous nose, Tapered finger, Short phalanx of finger, Pectus excavatum, Pes cavus, Long fingers,... OMIM:613458
Orofaciodigital Syndrome X
Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia, Depre... OMIM:165590
Wolf-Hirschhorn Syndrome
Abnormality of the vertebral column, Cryptorchidism, Short thumb, Osteoporosis, Micrognathia, Abn... ORPHA:280
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Brachydactyly, High palate, Bulbous nose, Enamel hypoplasia, Sandal gap, Wide nasal bridge, Depre... OMIM:600991
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micrognathia, Micromelia, Scoliosis, Broad long bones, Short nose, Bowing of the legs, High palat... OMIM:271665
Ververi-Brady Syndrome
High palate, Metaphyseal irregularity, Cupped ear, Broad nasal tip, Intrauterine growth retardati... OMIM:617982
Upper Limb Mesomelic Dysplasia
Ulnar deviation of finger, Hypoplasia of the ulna, Radial bowing ORPHA:2497
Pallister-Hall Syndrome
Preductal coarctation of the aorta, Radial head subluxation, Cryptorchidism, Atresia of the exter... OMIM:146510
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Brachydactyly, Irregular epiphyses, Absent nasal bridge, Short neck, Rhizomelia, Joint laxity, Pl... OMIM:612813
Lethal Osteosclerotic Bone Dysplasia
Short neck, Intrauterine growth retardation, Low-set ears, Depressed nasal ridge, Gingival fibrom... ORPHA:1832
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Thick vermilion border, Craniosynostosis, Osteopenia, Short neck, Short femoral neck, Short metac... OMIM:616723
Terminal Osseous Dysplasia
Brachydactyly, Toe clinodactyly, Multiple joint contractures, Abnormal bone structure, Mesomelic ... OMIM:300244
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Clinodactyly, Plagiocephaly, Short neck, Patent foramen ovale, Low-set ears, Hypertelorism, Crypt... OMIM:616789
Roifman Syndrome
Recurrent otitis media, Long philtrum, Underdeveloped nasal alae, Clinodactyly of the 5th finger,... OMIM:616651
Frank-Ter Haar Syndrome
Brachydactyly, Short philtrum, Joint stiffness, Kyphosis, Delayed eruption of teeth, Clinodactyly... ORPHA:137834
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Micrognathia, Macroglossia, Micromelia, Generalized osteosclerosis, Limb... ORPHA:1423
Saul-Wilson Syndrome
Coxa valga, Intrauterine growth retardation, Prominent superficial veins, Cone-shaped epiphyses o... OMIM:618150
Aminopterin Syndrome Sine Aminopterin
Clinodactyly, Cryptorchidism, Syndactyly, Short thumb, Micrognathia, Microcephaly, Macrocephaly, ... OMIM:600325
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Long nose, Retrognathia, Premature ovarian insufficiency, Patent ductus arteriosus, Velopharyngea... ORPHA:363444
Shprintzen-Goldberg Craniosynostosis Syndrome
Minimal subcutaneous fat, Shallow orbits, Cryptorchidism, Micrognathia, Ptosis, Inguinal hernia, ... OMIM:182212
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Micrognathia, Patellar dislocation... OMIM:274000
Spondyloepiphyseal Dysplasia, Kimberley Type
Short thorax, Abnormality of epiphysis morphology, Osteoarthritis, Platyspondyly, Micromelia ORPHA:93283
Xk Aprosencephaly Syndrome
Narrow mouth, Abnormal morphology of the radius, Anal atresia, Abnormality of the nares ORPHA:3469
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Postaxial foot polyd... ORPHA:474
Rhizomelic Chondrodysplasia Punctata
Abnormality of epiphysis morphology, Rhizomelia, Epiphyseal stippling, Scoliosis, Abnormality of ... ORPHA:177
Pseudopseudohypoparathyroidism
Brachydactyly, Short neck, Delayed eruption of teeth, Pseudohypoparathyroidism, Enamel hypoplasia... OMIM:612463
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the clavicles, Micrognathia, Aplasia/Hypoplasia of the ribs, Cleft palate, ... ORPHA:2839
Frontometaphyseal Dysplasia
Limitation of knee mobility, Bifid uvula, Micrognathia, Scoliosis, Metaphyseal widening, Short di... ORPHA:1826
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypoplastic ischia, Wide nose, Short neck, Anteverted nares, Short ribs, Dysplastic sacrum, Squar... OMIM:613320
Moebius Syndrome
Clinodactyly, Micrognathia, Hand clenching, Arthrogryposis multiplex congenita, Epicanthus, Decre... OMIM:157900
Sillence Syndrome
Abnormal distal phalanx morphology of finger, Slender build, Aplasia of the middle phalanx of the... ORPHA:3168
Osteogenesis Imperfecta, Type Ii
Abnormality of pelvic girdle bone morphology, Recurrent fractures, Multiple prenatal fractures, T... OMIM:166210
Emery-Nelson Syndrome
Brachydactyly, High palate, Abnormal thumb morphology, Metacarpophalangeal joint contracture, Lon... ORPHA:1927
Peripheral Dysostosis
Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger OMIM:170700
Arthrogryposis, Distal, Type 2B2
Brachydactyly, Clinodactyly, Narrow mouth, Sandal gap, Overlapping fingers, Tapered finger, Broad... OMIM:618435
Axial Spondylometaphyseal Dysplasia
Cupped ribs, Acromesomelia, Abnormal ilium morphology, Delayed ossification of carpal bones, Apla... ORPHA:168549
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Decreased calvarial ossification, Aplasia/Hypoplasia involving the carpal bones, Aplasia of the u... OMIM:276820
Hyperphosphatasia With Mental Retardation Syndrome 6
Clinodactyly, High palate, Shortening of all distal phalanges of the fingers, Flexion contracture... OMIM:616809
Aniridia 3
Cataract OMIM:617142
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Abnormal ilium morphology, Micrognathia, Scoliosis, Narrow g... ORPHA:93316
Brachydactyly, Combined B And E Types
Brachydactyly, Short 5th metacarpal, Short 4th metacarpal, Short 5th finger, Short thumb, Broad d... OMIM:112440
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Brachydactyly, Pectus excavatum, Micromelia, Limb undergrowth, Massively thickened long bone cort... OMIM:122900
Ulbright-Hodes Syndrome
Micrognathia, Abnormal rib morphology, Long upper lip, Narrow mouth, Ovoid thoracolumbar vertebra... ORPHA:3404
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Microdontia, Hypopla... OMIM:210720
Diabetic Embryopathy
Abnormal sacrum morphology, Tetralogy of Fallot, Abnormal morphology of female internal genitalia... ORPHA:1926
Disorganization, Mouse, Homolog Of
Cleft upper lip, Sacral meningocele, Hand polydactyly, Limb duplication, Cleft palate, Hip disloc... OMIM:223200
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Micrognathia, Bifid ribs, Microcephaly, Scoliosis, Narrow chest, Macrocephaly, Hemivertebrae, Rib... OMIM:213980
Postaxial Acrofacial Dysostosis