Gene Summary

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

IMPC Data Collections

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
embryonic growth retardation Ror2em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta vasculature Ror2em1(IMPC)Mbp HOM E15.5 0.00
cleft palate Ror2em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Ror2em1(IMPC)Mbp HOM E15.5 0.00
abnormal tail morphology Ror2em1(IMPC)Mbp HOM E15.5 0.00
abnormal craniofacial morphology Ror2em1(IMPC)Mbp HOM E15.5 0.00
polydactyly Ror2em1(IMPC)Mbp HOM E15.5 0.00
abnormal limb morphology Ror2em1(IMPC)Mbp HOM E15.5 0.00
preweaning lethality, complete penetrance Ror2em1(IMPC)Mbp HOM   Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

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
Acrocapitofemoral Dysplasia
Scoliosis, Narrow chest, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finge... OMIM:607778
Multiple Epiphyseal Dysplasia With Robin Phenotype
Scoliosis, Metatarsus adductus, Prominent proximal interphalangeal joints, Short femoral neck, Mi... OMIM:601560
Brachydactyly, Type A1, D
Short proximal phalanx of finger, Short proximal phalanx of thumb, Short distal phalanx of the 2n... OMIM:616849
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lumbar platyspondyly, Lytic defects of humeral diaphysis, ... OMIM:601376
Eiken Syndrome
Short phalanx of finger, Metaphyseal irregularity, Thin bony cortex, Delayed epiphyseal ossificat... ORPHA:79106
Multiple Epiphyseal Dysplasia, Lowry Type
Scoliosis, Genu valgum, Abnormal bone ossification, Broad nasal tip, Elbow dislocation, Rhizomeli... ORPHA:166016
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Still... OMIM:200700
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Ovoid vertebral bodies, Bell-shaped thorax, Short long bone, Coxa vara, Gen... OMIM:611702
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... OMIM:112910
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Limited elbow extension, Delayed pubic bone ossification, Ab... ORPHA:1856
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Coronal cleft vertebrae, Limb u... OMIM:118651
Leri-Weill Dyschondrosteosis
Scoliosis, Limited wrist movement, Dorsal subluxation of ulna, Abnormality of the metacarpal bone... OMIM:127300
Rhizomelic Dysplasia, Patterson-Lowry Type
Hyperlordosis, Genu valgum, Deformed humeral heads, Short nose, Depressed nasal ridge, Abnormal f... ORPHA:2831
Rhizomelic Chondrodysplasia Punctata, Type 2
Scoliosis, Anteverted nares, Stippled calcification proximal humeral epiphyses, Rhizomelia, Flexi... OMIM:222765
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Scoliosis, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphyses ... OMIM:250215
Atelosteogenesis, Type I
Short metatarsal, Narrow chest, Elbow dislocation, Thoracic platyspondyly, Multinucleated giant c... OMIM:108720
Femoral-Facial Syndrome
Scoliosis, Aplasia/Hypoplasia of the tibia, Oral cleft, Abnormality of the ribs, Abnormality of p... ORPHA:1988
Brachydactyly Type A1
Short hallux, Scoliosis, Distal symphalangism of hands, Short middle phalanx of finger, Cone-shap... ORPHA:93388
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Faciocardiomelic Dysplasia, Lethal
Radial deviation of the hand, Hypoplasia of the radius, Narrow mouth, Talipes, Hypoplasia of the ... OMIM:227270
Fibrochondrogenesis 1
Narrow mouth, Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Short neck, Thin c... OMIM:228520
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Narrow mouth, Microretrognathia, Hypoplasia of the ul... ORPHA:1972
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Joi... ORPHA:40
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Madelung deformity, Hypoplasia of th... OMIM:249700
Acrodysostosis
Open bite, Epiphyseal stippling, Short metatarsal, Open mouth, Mandibular prognathia, Abnormality... ORPHA:950
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Lateral clavicle hook, Long philtrum, Radioulnar ... OMIM:171480
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Underdeveloped nasal alae, Lower limb undergro... OMIM:186500
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... OMIM:201250
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Pectus c... OMIM:609052
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Rhizomelia, Short femur, Short humerus OMIM:600121
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Deformed humeral heads, Short metatarsal, Rhizomelia, Short humerus, Coxa vara, Sh... OMIM:601438
Spondyloperipheral Dysplasia
Broad thumb, Short metatarsal, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Pes planus, Thoracic kyphosis, Large hands, Cleft palate, Long toe, Cleft lip, Broad nasal tip OMIM:300263
Rhizomelic Chondrodysplasia Punctata, Type 5
Talipes equinovarus, Metaphyseal irregularity, Swan neck-like deformities of the fingers, Thoraci... OMIM:616716
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Joint laxity, Structural foot deformity, Bowing of the legs, J... ORPHA:93323
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Temporomandibular joint ankylosis, Lateral hum... OMIM:164900
Robin Sequence-Oligodactyly Syndrome
Abnormal form of the vertebral bodies, Micrognathia, Abnormality of the dentition, Abnormality of... ORPHA:3104
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Omodysplasia 2
Dislocated radial head, Hypoplastic distal humeri, Long philtrum, Limited elbow flexion/extension... OMIM:164745
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Dislocated radial head, Platyspondyly, Joint laxity, Metaphyseal irregularity, Carpal ... OMIM:618395
Thiemann Disease, Familial Form
Abnormality of the metaphysis, Brachydactyly, Limitation of joint mobility, Abnormality of epiphy... ORPHA:3314
Cleidorhizomelic Syndrome
Abnormal clavicle morphology, Rhizomelia, Bilateral single transverse palmar creases, Short middl... ORPHA:1453
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... ORPHA:240
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... ORPHA:750
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Atelosteogenesis, Type Ii
Scoliosis, Hitchhiker thumb, Short greater sciatic notch, Death in infancy, Sandal gap, Flat acet... OMIM:256050
Kyphomelic Dysplasia
Dumbbell-shaped humerus, Flat acetabular roof, Undulate ribs, Micrognathia, Ulnar bowing, Femoral... OMIM:211350
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Dental crowding, Sandal gap, Spina bifida occulta, High palate, Long philtrum, Pectus excavatum, ... OMIM:617877
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Short philtrum, Absent forearm, Overlapping toe, Wide anterior... OMIM:201170
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Atelosteogenesis Type Ii
Short phalanx of finger, Narrow chest, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal... ORPHA:56304
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Thin vermilion border, Short femur, Narrow mouth, Hypoplasia of the ulna, Aplasia/Hypoplasia of t... OMIM:612447
Symbrachydactyly Of Hands And Feet
Scoliosis, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormality of the ... ORPHA:1570
3M Syndrome
Scoliosis, Abnormal dental enamel morphology, Congenital hip dislocation, Bulbous nose, Enlarged ... ORPHA:2616
Hypochondroplasia
Limited elbow extension, Aplasia/hypoplasia of the extremities, Lumbar hyperlordosis, Short long ... OMIM:146000
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Abnormality of the philtrum, Finger syndactyly, Pectus carinatu... ORPHA:3268
Microphthalmia With Limb Anomalies
Sandal gap, High palate, Depressed nasal bridge, Postaxial hand polydactyly, Foot oligodactyly, C... OMIM:206920
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Mental Retardation Syndrome, Mietens-Weber Type
Dislocated radial head, Pes planus, Absent proximal radial epiphyses, Forearm undergrowth, Elbow ... OMIM:249600
Boomerang Dysplasia
Abnormality of tibia morphology, Abnormality of femur morphology, Abnormal bone ossification, Poo... ORPHA:1263
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Horizontal ribs, Postaxial polydactyly, Intestinal malrotation, Hamartoma of tongue, S... OMIM:613091
Seckel Syndrome 1
Enamel hypoplasia, Scoliosis, Dental crowding, Pes planus, Sandal gap, High palate, Cone-shaped e... OMIM:210600
Acro-Renal-Mandibular Syndrome
Scoliosis, Split hand, Aplasia/Hypoplasia of the tongue, Hemivertebrae, Oral cleft, High palate, ... ORPHA:958
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Laryngotracheomalacia, Flat acetabular roof, Small epiphyses, Short femoral neck, Shor... ORPHA:94068
Metaphyseal Anadysplasia
Abnormality of epiphysis morphology, Bowing of the long bones, Aplasia/Hypoplasia of the radius, ... ORPHA:1040
Multiple Osteochondromas
Radial bowing, Genu valgum, Scoliosis, Abnormality of tibia morphology, Osteolysis, Anteverted na... ORPHA:321
Microcephaly-Micromelia Syndrome
Oligodactyly, Convex nasal ridge, Humeroradial synostosis, Craniosynostosis, Short neck, Narrow m... OMIM:251230
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Elbow dislocation, Hypoplasia of the... ORPHA:2634
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Broad thumb, Short metatarsal, Congenital hip dislocation, Narrow c... OMIM:304120
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Slender finger, Ve... OMIM:609813
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Scoliosis, Thin vermilion border, Short nose, Narrow mouth, Abnormal form of the v... ORPHA:2370
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Microretrognathia, Abnormal form of the vertebral bodie... ORPHA:1788
Epiphyseal Dysplasia, Multiple, 4
Hip dysplasia, Scoliosis, Limited elbow flexion, Epiphyseal dysplasia, Double-layered patella, Sh... OMIM:226900
Anauxetic Dysplasia 1
Platyspondyly, Delayed ossification of carpal bones, Hypoplastic ilia, Short finger, Rhizomelia, ... OMIM:607095
Acromicric Dysplasia
Long philtrum, Abnormality of femur morphology, Bulbous nose, Anteverted nares, Abnormality of ep... ORPHA:969
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Multiple prenatal fractures, Multiple rib fractures, Micrognathia, Sh... OMIM:616897
Orofaciodigital Syndrome Type 10
Tarsal synostosis, Micrognathia, Short neck, Mesomelic leg shortening, Hypoplasia of proximal rad... ORPHA:2756
Campomelic Dysplasia
Scoliosis, Poorly ossified cervical vertebrae, Narrow chest, Small abnormally formed scapulae, Mi... ORPHA:140
Cenani-Lenz Syndrome
Scoliosis, Abnormal dental enamel morphology, Elbow dislocation, Abnormality of the metacarpal bo... ORPHA:3258
Spondylometaphyseal Dysplasia, Corner Fracture Type
Scoliosis, Metaphyseal irregularity, Pectus carinatum, Ovoid vertebral bodies, Coxa vara, Hyperco... OMIM:184255
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Micrognathia, Femoral bowing, Depressed nasal bridge, Hypopla... OMIM:114290
Metatropic Dysplasia
Scoliosis, Arthrogryposis multiplex congenita, Narrow chest, Dumbbell-shaped metaphyses, Absent p... OMIM:156530
Atelosteogenesis Type I
Scoliosis, Platyspondyly, Short femur, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Death in infancy, Ulnar deviation of the hand, Short neck, Micrognathia, Depressed nasal bridge, ... OMIM:602613
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Pear-shaped vertebrae, Platyspondyly, Flared iliac wing, ... OMIM:602111
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Abnormality of the vertebral column, Stillbirth, Upper limb phocomelia,... ORPHA:294975
Holt-Oram Syndrome
Small thenar eminence, Limited elbow extension, Hypoplasia of the radius, Abnormal vertebral morp... OMIM:142900
Achondroplasia
Limited elbow extension, Limited hip extension, Generalized joint laxity, Trident hand, Rhizomeli... OMIM:100800
Carpenter Syndrome 1
Scoliosis, Cryptorchidism, Lambdoidal craniosynostosis, Flared iliac wing, Camptodactyly, Patent ... OMIM:201000
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Polydactyly, Cleft palate, Syndactyly, Hypoplasia of the epiglott... OMIM:300484
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hypoplastic sacrum, Distal ulnar hypoplasia, Scoliosis, Carpal bone hypoplasia, Mandibular progna... OMIM:304950
Brachydactyly, Type A1, C
Short middle phalanx of the 2nd finger, Bilateral talipes equinovarus, Short distal phalanx of fi... OMIM:615072
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Fibular aplasia, Broad thumb, Finger syndactyly, Cleft palate, Adducted thumb, Clinoda... ORPHA:3320
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Thin vermilion border, Abnormality of epiphysis morphology, Elbow disloc... ORPHA:2631
Brachyolmia Type 1, Hobaek Type
Scoliosis, Squared-off platyspondyly, Short iliac bones, Short neck, Pectus carinatum, Flattened ... OMIM:271530
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Squared iliac bones, Lumbar platyspondyly, Short nose, Anteverted nares, Narrow chest, Beaking of... OMIM:618961
Multiple Metaphyseal Dysplasia
Hyperlordosis, Broad distal phalanx of finger, Abnormality of tibia morphology, Abnormality of ep... ORPHA:93430
Multiple Epiphyseal Dysplasia Type 4
Scoliosis, Short metatarsal, Ulnar deviation of the hand, Acetabular dysplasia, Joint stiffness, ... ORPHA:93307
Langer Mesomelic Dysplasia
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, High palate, Bowing of... ORPHA:2632
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Abnormal form of the ver... ORPHA:1801
Brachydactyly, Type A3
Rhomboid or triangular shaped 5th finger middle phalanx, Type A brachydactyly, Cone-shaped epiphy... OMIM:112700
Odontochondrodysplasia
Scoliosis, Delayed eruption of teeth, Platyspondyly, Short nose, Narrow chest, Square pelvis bone... ORPHA:166272
Congenital Disorder Of Glycosylation, Type Ig
Respiratory tract infection, Hypoplasia of the radius, Short femur, Short philtrum, Rhizomelia, S... OMIM:607143
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of dental morphology, Abnormal form of the vertebral bodies, Abnormality of the denti... ORPHA:1837
Eiken Syndrome
Oligodontia, Pseudoepiphyses, Long thumb, Flat acetabular roof, Delayed tarsal ossification, Dela... OMIM:600002
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Abnormality of the ribs, Hypoplastic cervical vertebrae, Abno... ORPHA:2635
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Tooth malposition, Micrognathia, Osteolytic defects of the phalanges of ... OMIM:277150
Stuve-Wiedemann Syndrome
Pursed lips, Scoliosis, Abnormal dental enamel morphology, Short phalanx of finger, Pathologic fr... OMIM:601559
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Bilateral ulnar hypoplasia, Limitation of knee mobility, Limited elbow movement OMIM:276821
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Epiphyseal stippling, Wide anterior fontanel, ... OMIM:619135
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Scoliosis, Amelogenesis imperfecta, Short neck, Broad ribs, Biconcave vertebral bodies, Rhizomeli... OMIM:610319
Brachydactyly, Type A1
Aplasia/Hypoplasia of the middle phalanges of the hand, Broad metacarpal epiphyses, Short proxima... OMIM:112500
Codas Syndrome
Enamel hypoplasia, Scoliosis, Cryptorchidism, Short phalanx of finger, Congenital hip dislocation... OMIM:600373
Poland Syndrome
Hypoplasia of deltoid muscle, Sprengel anomaly, Rib fusion, Short ribs, Unilateral brachydactyly,... OMIM:173800
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed ossification of carpal bones, Short middle phalanx of finger, Short 1st metacarpal, Cone-... OMIM:182255
Hypochondroplasia
Scoliosis, Hyperlordosis, Short toe, Abnormal form of the vertebral bodies, Joint hyperflexibilit... ORPHA:429
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Broad thumb, Elbow dislocation, Talipes, Broad hallux phalanx, Hypoplas... ORPHA:2249
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hip joint morphology, Flattened femoral head, Thoracic platyspondy... ORPHA:166011
Odontochondrodysplasia 1
Scoliosis, Joint hypermobility, Short phalanx of finger, Narrow chest, Flared iliac wing, Death i... OMIM:184260
Robin Sequence With Cleft Mandible And Limb Anomalies
Hip subluxation, Short phalanx of finger, Narrow mouth, Aplasia of the epiglottis, Acetabular dys... OMIM:268305
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip subluxation, Flattened femoral head, Short femoral neck, Hump-shaped mound of bone in central... ORPHA:99642
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Convex nasal ridge, Abnormal palate morphology, Mesomelia, Long thorax, Tooth agenesis, Abnormal ... ORPHA:1277
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Carious teeth, Pes planus, Small epiphyses, High palate, Short femoral neck, Advanced ... OMIM:618363
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Short phalanx of finger, Generalized joint laxity, Hip osteoarthritis, Irregular epi... OMIM:132400
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Upper limb asymmetry, Aplasia/Hypoplasia of the radius, Abnormal scapula morph... ORPHA:2141
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Scoliosis, Carious teeth, Delayed eruptio... OMIM:265800
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Abnormality of the knee, Abnormality of the tongue, Preaxial hand polydactyl... ORPHA:3098
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Bifid distal phalanx of toe, Scoliosis, Cryptorchidism, Broad thumb, Dental c... OMIM:268310
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Mandi... ORPHA:2790
Acrocapitofemoral Dysplasia
Scoliosis, Hyperlordosis, Short thorax, Narrow chest, Flared iliac wing, Pectus carinatum, Short ... ORPHA:63446
Sugarman Brachydactyly
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... OMIM:272150
Autosomal Dominant Omodysplasia
Long philtrum, Short nose, Elbow dislocation, Rhizomelia, Short 1st metacarpal, Short humerus, Mi... ORPHA:93328
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Lower limb asymmetry, Bilateral talip... OMIM:608571
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Craniosynostosis, Underdeveloped nasal alae, Choanal stenosis, Dental cr... OMIM:600920
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Pes planus, Flat acetabular roof, Narrow greater sciatic notch, Cone-shaped epiphyses ... OMIM:609616
Acromicric Dysplasia
Long philtrum, Short phalanx of finger, Bulbous nose, Narrow mouth, Deep philtrum, Ovoid vertebra... OMIM:102370
Anauxetic Dysplasia 2
Hyperlordosis, Cubitus valgus, Macroglossia, Hypoplasia of the femoral head, Shield chest, Ovoid ... OMIM:617396
Ruvalcaba Syndrome
Scoliosis, Limited elbow extension, Cryptorchidism, Short metatarsal, Short phalanx of finger, Un... OMIM:180870
Weill-Marchesani Syndrome 2
Scoliosis, Short metatarsal, Narrow palate, Patent ductus arteriosus, Joint stiffness, Thin bony ... OMIM:608328
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Micrognathia, Fibular hypoplasia, Ulnar bowin... OMIM:113470
Atelosteogenesis, Type Iii
Widened distal phalanges, Radial bowing, Scoliosis, Cervical segmentation defect, Short neck, Elb... OMIM:108721
Kbg Syndrome
Long philtrum, Oligodontia, Underdeveloped nasal alae, Anteverted nares, Thoracic kyphosis, Rib f... OMIM:148050
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Thin vermilion border, Broad thumb, Tarsal synostosis, Elbow disloc... ORPHA:1106
Metaphyseal Acroscyphodysplasia
Scoliosis, Abnormality of femur morphology, Depressed nasal ridge, Bowing of the long bones, Cone... ORPHA:1240
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... ORPHA:3246
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short ... OMIM:608940
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormality of... ORPHA:1350
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Long philtrum, Everted lower lip vermilion, Thick nasal alae, Hypoplasia of the ulna, Thin upper ... ORPHA:357175
Mental Retardation, X-Linked 91
Cubitus valgus, Short nose, Clinodactyly, Small hand, Short foot, High palate, Short 5th finger, ... OMIM:300577
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Narrow chest, Polydactyly, Horizo... ORPHA:1505
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... OMIM:177170
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Long philtrum, Abnormality of dental morphology, Upper limb phocomelia, Deep ph... ORPHA:2878
Mental Retardation, Autosomal Recessive 35
Long philtrum, Downturned corners of mouth, Everted lower lip vermilion, Thick nasal alae, Hypopl... OMIM:615162
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Fib... OMIM:228900
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pectus excavatum, Pseudoarthrosis OMIM:607278
Schneckenbecken Dysplasia
Lateral clavicle hook, Short neck, Advanced tarsal ossification, Narrow chest, Abnormal form of t... ORPHA:3144
Multiple Synostoses Syndrome
Broad thumb, Cone-shaped epiphysis, Bilateral single transverse palmar creases, Symphalangism aff... ORPHA:3237
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Narrow chest, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Brachydac... ORPHA:440354
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Short middle phalanx of finger, Shortening of all... ORPHA:85169
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flat distal femoral epiphysis, Genu valgum, Proximal femoral metaphyseal irregularity, Platyspond... OMIM:609324
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Elbow dislocation, Bowing of the long bones, Narrow iliac wing, Mesomeli... ORPHA:85170
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Finger syndactyly, Hypoplasia of the ulna, Wide na... ORPHA:2256
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Hypoplasia of the ulna OMIM:191400
Desbuquois Dysplasia 1
Scoliosis, Short metatarsal, Joint laxity, Narrow chest, Narrow mouth, Phalangeal dislocation, Br... OMIM:251450
Ulnar Hypoplasia
Radial bowing, Distal ulnar hypoplasia, Hypoplasia of the radius, Mesomelic arm shortening, Radia... OMIM:191440
Maxillonasal Dysplasia, Binder Type
Patchy distortion of vertebrae, Short nose, Short columella, Short distal phalanx of finger, Dent... OMIM:155050
Weill-Marchesani Syndrome 1
Scoliosis, Narrow palate, Patent ductus arteriosus, Joint stiffness, Thin bony cortex, Broad phal... OMIM:277600
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal irregularity, Abnormality of the vertebral column, Metaphyseal cupping ... OMIM:250460
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Thin vermilion border, Craniosynostosis, Broad thumb, Short metatarsal, Short phalanx of finger, ... OMIM:609945
Acrocephalopolydactyly
Abnormality of the mouth, Short nose, Genu recurvatum, Thoracic hypoplasia, Limb undergrowth, Sho... ORPHA:221054
Brachydactyly Type A2
Type A2 brachydactyly, Short middle phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hy... ORPHA:93396
Cousin Syndrome
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Alveolar ridge overgrowth, Microgna... OMIM:260660
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Decreased hip abduction, Flared iliac wing, Rhizomelia... OMIM:183849
Atelosteogenesis Type Iii
Laryngotracheomalacia, Elbow dislocation, Club-shaped distal femur, Absent radius, High palate, M... ORPHA:56305
Pelviscapular Dysplasia
Humeroradial synostosis, Short femur, Short neck, Congenital hip dislocation, Hypoplastic scapula... ORPHA:93333
Thanatophoric Dysplasia Type 1
Platyspondyly, Abnormal sacroiliac joint morphology, Short femur, Wide anterior fontanel, Narrow ... ORPHA:1860
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metatarsal, Pes planus, Abnormality of the carpal bones, Abnormality of the ribs, Abnormali... ORPHA:93351
Cardiospondylocarpofacial Syndrome
Scoliosis, Long philtrum, Tarsal synostosis, Joint laxity, Anteverted nares, Cone-shaped epiphysi... OMIM:157800
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Natal tooth, Horizontal ribs, Postaxial polydactyly, Hamartoma of tongue, Narrow gr... OMIM:617925
Tibial Torsion, Bilateral Medial
Scoliosis, Abnormality of tibia morphology, Bowing of the legs, Tibial torsion OMIM:188800
Brachydactyly, Type A4
Talipes calcaneovalgus, Short middle phalanx of the 2nd finger, Type A brachydactyly, Congenital ... OMIM:112800
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Short humerus, Abnormality of t... ORPHA:2491
Coloboma Of Macula-Brachydactyly Type B Syndrome
Camptodactyly of finger, Broad thumb, Type B brachydactyly, Short distal phalanx of finger ORPHA:1471
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Dislocated radial head, Scapulohumeral synostosis, Narrow mouth, Rhizomelia, Hypoplastic scapulae... OMIM:602471
Ulnar Hemimelia
Scoliosis, Radial club hand, Short forearm, Limited shoulder movement, Duplication of phalanx of ... ORPHA:93320
Tetrasomy X
Hip dysplasia, Radioulnar synostosis, Joint hyperflexibility, Abnormality of the dentition, Clino... ORPHA:9
Thoracomelic Dysplasia
Hyperlordosis, Genu valgum, Narrow chest, Elbow dislocation, Joint hyperflexibility, Bell-shaped ... ORPHA:1803
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Talocalcaneal synostosis, Pes planus, Sandal gap, Wide capital fe... OMIM:147891
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis, Pectus excavatum, Trichiasis, Radial deviation of finger, Malar flattening, Clinodactyl... OMIM:609944
Split-Hand/Foot Malformation 2
Short phalanx of finger, Finger syndactyly, Split hand, Split foot, Short metacarpal OMIM:313350
Digital Arthropathy-Brachydactyly, Familial
Short middle phalanx of finger, Short distal phalanx of toe, Short distal phalanx of finger, Radi... OMIM:606835
Becker Nevus Syndrome
Scoliosis, Abnormality of tibia morphology, Pectus carinatum, Pectus excavatum, Upper limb asymme... ORPHA:64755
Ivic Syndrome
Scoliosis, Limited wrist movement, Carpal bone hypoplasia, Intestinal malrotation, Rectovaginal f... OMIM:147750
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Mesomelia, Talipes equinovalgus, Abnormal thorax morphology, Short tibia,... OMIM:605274
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Thin vermilion border, Joint laxity, Metaphyseal irregularit... OMIM:602557
Brachydactyly, Type A1, B
Short middle phalanx of finger, Broad distal hallux, Type A brachydactyly, Short 5th metacarpal, ... OMIM:607004
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Postaxial hand polydactyly, Narrow chest, Broad palm, Rhizomelia, Mesomelia, Short metacarpal, Sh... OMIM:611263
Maxillonasal Dysplasia
Open bite, Scoliosis, Patchy distortion of vertebrae, Short nose, Mandibular prognathia, Short co... ORPHA:1248
Greenberg Dysplasia
Platyspondyly, Abnormal bone ossification, Narrow chest, Abnormal form of the vertebral bodies, R... ORPHA:1426
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Osteoporosis, Scoliosis, Platyspondyly, Anteverted nares, Hypoplasia of the pr... OMIM:234250
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Anterior rib cupping, Genu valgum, Delayed pubic bone ossification, Club-shaped proximal femur, S... OMIM:184250
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Platyspondyly, Thoracic hypoplasia, Irregular epiphyses, Ovoid vertebral... OMIM:608728
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Brachydactyly Type A7
Medially deviated second toe, Aplasia/Hypoplasia of the middle phalanges of the hand, Short hallu... ORPHA:93397
Mietens Syndrome
Hip dysplasia, Hypoplasia of the radius, Short nose, Elbow dislocation, Talipes, Elbow ankylosis,... ORPHA:2557
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short phalanx of finger, Joint laxity, Short femoral neck, High palate, Flat capital femoral epip... OMIM:612350
Sandestig-Stefanova Syndrome
Rocker bottom foot, Convex nasal ridge, Camptodactyly, High palate, Oral cleft, Bilateral single ... OMIM:618804
Brachydactyly, Type D
Broad distal phalanx of the thumb, Type D brachydactyly, Broad distal phalanx of the hallux OMIM:113200
Pde4D Haploinsufficiency Syndrome
Accelerated skeletal maturation, Cryptorchidism, Abnormal dental enamel morphology, Short metatar... ORPHA:439822
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Flat acetabular roof, Monkey wrench femoral neck, Genu varum, Short femoral neck, ... OMIM:617719
17Q21.31 Microduplication Syndrome
Short philtrum, Toe syndactyly, Short nose, Micrognathia, Abnormality of the dentition, Sandal ga... ORPHA:217340
Cono-Spondylar Dysplasia
Scoliosis, Anteverted nares, Kyphosis, Short humerus, Short 4th toe, Short lower limbs, Cone-shap... ORPHA:420794
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Micrognathia, Osteoarth... ORPHA:1427
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Short finger, Syndactyly, Split foot, Hypoplasia of the ulna OMIM:314360
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Narrow chest, Downturned corners of mouth, Thoracic kyphos... ORPHA:163649
Robinow Syndrome, Autosomal Dominant 2
Cryptorchidism, Broad thumb, Dental crowding, Short distal phalanx of finger, Partial duplication... OMIM:616331
Osteoglophonic Dysplasia
Cryptorchidism, Craniosynostosis, Short metatarsal, Short phalanx of finger, Chordee, Mandibular ... OMIM:166250
Metaphyseal Anadysplasia 2
Metaphyseal widening, Short femoral neck, Bowing of the legs, Metaphyseal irregularity OMIM:613073
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Scoliosis, Generalized bone demineralization, Short phalanx of finger, Shield chest, Elbow disloc... OMIM:143095
Brachydactyly, Type A2
Medially deviated second toe, Triangular shaped middle phalanx of the 5th finger, Short hallux, T... OMIM:112600
Fetal Trimethadione Syndrome
Scoliosis, Ambiguous genitalia, Atrial septal defect, Short nose, Overfolded helix, Midface retru... ORPHA:1913
Autosomal Recessive Multiple Pterygium Syndrome
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Abnormal sternum morphology, Scrot... ORPHA:2990
Robinow Syndrome
Scoliosis, Cryptorchidism, Dental crowding, Scrotal hypoplasia, Short distal phalanx of finger, H... ORPHA:97360
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Genu valgum, Hyperlordosis, Metaphyseal irregularity, Pes planus, Kyphosis, Ovoid vert... ORPHA:93315
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
8P23.1 Microdeletion Syndrome
Cryptorchidism, Thin vermilion border, Broad thumb, Enlarged thorax, Broad hallux phalanx, Patent... ORPHA:251071
Acrorenal-Mandibular Syndrome
Narrow palate, Narrow chest, Split hand, Hemivertebrae, High palate, Micrognathia, Elbow flexion ... OMIM:200980
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Flared iliac wing, Thoracic kyphosis, Small epiphyses, Short femoral neck, High palate, Short nec... OMIM:300232
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Thoracic hypoplasia, Pectus excavatum, Limb undergrowth, Lumbar hyperlor... ORPHA:156728
Autosomal Recessive Robinow Syndrome
Scoliosis, Cryptorchidism, Open bite, Broad thumb, Downturned corners of mouth, Elbow dislocation... ORPHA:1507
Trichorhinophalangeal Syndrome, Type Iii
Coxa magna, Pear-shaped nose, Long philtrum, Scoliosis, Short metatarsal, Short phalanx of finger... OMIM:190351
Alagille Syndrome
Cryptorchidism, Peripheral pulmonary artery stenosis, Short distal phalanx of finger, Spina bifid... ORPHA:52
Eng-Strom Syndrome
Scoliosis, Camptodactyly of finger, Pectus excavatum, Brachydactyly, Arthritis ORPHA:1937
Pallister W Syndrome
Radial bowing, Cubitus valgus, Agenesis of central incisor, Pes planus, Camptodactyly, Agenesis o... OMIM:311450
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Distal shortening of limbs, Short nose, Rhizomelia, Metaphyseal cupping of metacar... OMIM:300863
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... OMIM:610713
Juberg-Hayward Syndrome
Scoliosis, Hypoplasia of the radius, Toe syndactyly, Abnormality of finger, Radioulnar synostosis... ORPHA:2319
Coffin-Lowry Syndrome
Scoliosis, Sleep apnea, Narrow palate, Open mouth, Short distal phalanx of finger, Sensorineural ... ORPHA:192
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Genu valgum, Reduced arm span, Abnormality of the ankles, Abnormality of... ORPHA:166002
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Broad long bone diaphyses, Metaphyseal irregularity, Flared iliac wing, ... OMIM:300106
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Abnormality of tibia morphology, Abnormal form of the vertebral b... ORPHA:3344
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Lateral clavicle hook, Brachydactyly, Narrow chest OMIM:617405
Mueller-Weiss Syndrome
Chondritis, Fragmented, irregular epiphyses, Limitation of movement at ankles, Pes planus, Positi... ORPHA:566943
Aarskog-Scott Syndrome
Cryptorchidism, Oral cleft, Short neck, Hypoplasia of the maxilla, Long philtrum, Genu recurvatum... ORPHA:915
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hand polydactyly, Abnormality of the vertebral column, Abnormal vertebral morphology, Short humer... OMIM:314390
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteoporosis, Long philtrum, Scoliosis, Short nose, Open mouth, Downturned corners of mouth, Pect... OMIM:615398
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Abnormal sternum morphology, Flattened femoral head, Pa... ORPHA:457395
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Dental crowding, Kyphosis, 2-3 toe syndactyly, Thick vermilion border, Brachydactyly,... OMIM:617061
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Abnormality of the ribs, Short philtrum, Platyspondyly, Short neck,... ORPHA:93267
Diastrophic Dwarfism
Scoliosis, Elbow dislocation, Abnormality of the metacarpal bones, Increased bone mineral density... ORPHA:628
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Platyspondyly, Convex nasal ridge, Short middle phalanx of th... OMIM:156510
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Cryptorchidism, Respiratory insufficiency, Spina bifida occulta, Abnormality of the ri... ORPHA:2311
Heart Defects-Limb Shortening Syndrome
Abnormality of the ribs, Narrow chest, Mesomelic/rhizomelic limb shortening, Abnormal form of the... ORPHA:1354
Acheiropodia
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Brachydactyly-Distal Symphalangism Syndrome
Camptodactyly of finger, Distal symphalangism of hands, Short 1st metacarpal, Aplasia of the midd... OMIM:113450
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Short metatarsal, Narrow mouth, Downturned corners of mouth, Tu... OMIM:211910
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Osteoarthritis of the elbow, Protrusio acetabuli, Abnormality of the ankles, Stiff... ORPHA:2619
Mesomelic Dysplasia, Kantaputra Type
Cubitus valgus, Camptodactyly of finger, Tarsal synostosis, Abnormality of the ankles, Synostosis... ORPHA:1836
Postaxial Acrofacial Dysostosis
Hypoplasia of the radius, Supernumerary vertebrae, Congenital hip dislocation, Radioulnar synosto... OMIM:263750
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Hhhh Syndrome
Hemiatrophy OMIM:306960
Long-Thumb Brachydactyly Syndrome
Short finger, Long thumb, Brachydactyly OMIM:112430
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Scoliosis, Carious teeth, Metaphyseal chondrodysplasia, Hyperlordosis, Abnormality... ORPHA:2501
Kinsship Syndrome
Scoliosis, Bulbous nose, Downturned corners of mouth, Polydactyly, Pes planus, Mandibular prognat... OMIM:619297
Diastrophic Dysplasia
Costal cartilage calcification, Hypoplastic cervical vertebrae, Hitchhiker thumb, Short finger, I... OMIM:222600
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Mesomelia, Hypoplasia of the ulna, Neonatal death, Syndactyly, Micrognathia OMIM:228940
Melnick-Needles Syndrome
Narrow chest, Pes planus, Short distal phalanx of finger, Short clavicles, Cone-shaped epiphyses ... OMIM:309350
Meier-Gorlin Syndrome 6
Cryptorchidism, Underdeveloped nasal alae, Sandal gap, Delayed puberty, Small for gestational age... OMIM:616835
Dyssegmental Dysplasia With Glaucoma
Platyspondyly, Wide anterior fontanel, Broad long bones, Short long bone, Cleft palate, Flared me... OMIM:601561
Syndactyly Type 5
Camptodactyly of finger, Metacarpal synostosis, 2-3 toe syndactyly, 3-4 finger syndactyly, Short ... ORPHA:93406
Osteopathia Striata With Cranial Sclerosis
Scoliosis, Dental crowding, Camptodactyly, Natal tooth, Intestinal malrotation, Spina bifida occu... OMIM:300373
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Metaphyseal irregulari... OMIM:269250
Achondrogenesis, Type Ia
Hypoplasia of the radius, Abnormal hand bone ossification, Short nose, Short neck, Stillbirth, Ba... OMIM:200600
Omodysplasia 1
Anterolateral radial head dislocation, Increased fibular diameter, Pulmonary artery stenosis, Sho... OMIM:258315
Aase-Smith Syndrome
Scoliosis, Camptodactyly of finger, Aplasia/Hypoplasia of the radius, Trismus, Multiple joint con... ORPHA:916
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Carpal bone hypoplasia, Anterior scalloping of vertebral bodies, Small e... OMIM:611717
Trisomy 4P
Scoliosis, Radial club hand, Carious teeth, Preaxial hand polydactyly, Camptodactyly of finger, A... ORPHA:1738
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Type A brachydactyly, Abnormal thumb morphology, Joint stiffness, Abnormality of the metacarpal b... ORPHA:1078
Dysspondyloenchondromatosis
Scoliosis, Genu valgum, Platyspondyly, Metaphyseal enchondromatosis, Anisospondyly, Generalized j... ORPHA:85198
W Syndrome
Radial bowing, Cubitus valgus, Elbow dislocation, Pes planus, Camptodactyly, Agenesis of maxillar... ORPHA:2804
Orofaciodigital Syndrome Xviii
Genu valgum, Short philtrum, Short middle phalanx of finger, Preaxial polydactyly, Diastema, Post... OMIM:617927
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Micrognathia, Pierre-Robin sequence, Short di... OMIM:311895
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Hand polydactyly, Short phalanx of finger, Metaphyseal irregularity, Hypop... OMIM:208500
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Coxa vara, Flared, irregular rib ends, Limitation of joint mobility, Short palm, M... ORPHA:168555
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Scoliosis, Short femur, Foot oligodactyly, Bilateral cleft lip and palate, Amelia, Cleft upper lip OMIM:601357
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Scoliosis, Oligodontia, Short metatarsal, Short phalanx of finger, Joint laxit... OMIM:170390
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Cleft palate, Retrognathia... OMIM:249710
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Joint laxity, Abnormality of the elbow, Increased susceptibility to fractures, Abnorma... ORPHA:93359
Shox-Related Short Stature
Scoliosis, Cubitus valgus, Genu valgum, Short neck, Ulnar radial head dislocation, Madelung defor... ORPHA:314795
Baller-Gerold Syndrome
Scoliosis, Lambdoidal craniosynostosis, Underdeveloped nasal alae, Choanal stenosis, Narrow mouth... OMIM:218600
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Tongue nodules, Short finger, Pectus excavatum, Hamartoma of to... OMIM:258860
Axial Spondylometaphyseal Dysplasia
Proximal femoral metaphyseal irregularity, Platyspondyly, Short nose, Rhizomelia, Thoracic hypopl... ORPHA:168549
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia, Accessory oral frenulum, Hand polydactyly, Toe syndactyly, Campto... OMIM:258865
Otopalatodigital Syndrome Type 2
Scoliosis, Oligodontia, Tarsal synostosis, Narrow mouth, Narrow chest, Elbow dislocation, Flared ... ORPHA:90652
Craniosynostosis-Mental Retardation-Clefting Syndrome
Convex nasal ridge, Craniosynostosis, Oral cleft, Forearm undergrowth, Lower limb undergrowth OMIM:218650
Acrocraniofacial Dysostosis
Craniosynostosis, Broad thumb, Flared iliac wing, Choanal atresia, Short distal phalanx of finger... ORPHA:949
Brachydactyly, Type A2, With Microcephaly
Clinodactyly of the 2nd toe, Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Absent ... OMIM:211369
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short toe, Broad thumb, Broad nasal tip, Short 5th metacarpal, 3-4 finger c... ORPHA:370010
Anauxetic Dysplasia 3
Joint hypermobility, Oligodontia, Hip subluxation, Narrow chest, Femoral bowing, Depressed nasal ... OMIM:618853
Acheiropody
Absent hand, Absent forearm, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Shor... OMIM:200500
Metaphyseal Chondrodysplasia, Kaitila Type
Limited elbow extension, Proximal femoral metaphyseal irregularity, Metaphyseal chondrodysplasia,... OMIM:250230
Paternal Uniparental Disomy Of Chromosome X
Infertility, Cubitus valgus, Shield chest, Short metacarpal, Decreased testicular size, Short nec... ORPHA:261524
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Shield chest, Carpal bone hypoplasia, Camptodactyly, Mandibular prog... OMIM:223800
Acromesomelic Dysplasia, Maroteaux Type
Short metatarsal, Short phalanx of finger, Joint laxity, Ovoid vertebral bodies, Cone-shaped epip... OMIM:602875
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short hallux, Overlapping fingers, Scoliosis, Pectus excavatum, Postaxial polydactyly, Adducted t... OMIM:618167
Catel-Manzke Syndrome
Scoliosis, Camptodactyly of finger, Abnormality of epiphysis morphology, Micrognathia, Joint hype... ORPHA:1388
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Split foot, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius ORPHA:1122
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Short toe, Short nose, Narrow mouth, Short foot, Wide nasal bridge, Cleft palate, Sh... OMIM:614078
Cranioectodermal Dysplasia 1
Enamel hypoplasia, Joint laxity, Narrow chest, Short distal phalanx of finger, High palate, High,... OMIM:218330
Ruvalcaba Syndrome
Scoliosis, Cryptorchidism, Narrow chest, Abnormality of the elbow, Delayed puberty, Downslanted p... ORPHA:3121
Acromesomelic Dysplasia, Hunter-Thompson Type
Scoliosis, Tarsal synostosis, Abnormality of the ankles, Elbow dislocation, Abnormally shaped car... ORPHA:968
Chst3-Related Skeletal Dysplasia
Scoliosis, Cubitus valgus, Genu valgum, Delayed eruption of teeth, Long philtrum, Abnormal form o... ORPHA:263463
Hypertension And Brachydactyly Syndrome
Brachydactyly, Cone-shaped epiphysis, Short phalanx of finger, Short metacarpal OMIM:112410
Femoral-Facial Syndrome
Scoliosis, Short fifth metatarsal, Underdeveloped nasal alae, Dysplastic sacrum, Limited shoulder... OMIM:134780
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Short philtrum, Metaphyseal chondrodysplasia, Short nose, Rhizomelia, Metaphyseal ... ORPHA:163966
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Anterior clefting of vertebral bod... OMIM:265000
Camptodactyly Syndrome, Guadalajara, Type Ii
Camptodactyly of finger, Short 3rd toe, Talipes equinovarus, Long philtrum, Short neck, Short mid... OMIM:211920
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Narrow chest, Hypoplastic ilia, Decreased cranial base ossification, ... OMIM:151210
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Preaxial hand polydactyly, Short metatarsal, Broad thumb, Abnormal palate morph... ORPHA:1278
Codas Syndrome
Scoliosis, Abnormal dental enamel morphology, Congenital hip dislocation, Overfolded helix, Crump... ORPHA:1458
Acrodysostosis 2 With Or Without Hormone Resistance
Accelerated skeletal maturation, Cryptorchidism, Short metatarsal, Short phalanx of finger, Antev... OMIM:614613
Otoonychoperoneal Syndrome
Aplasia/Hypoplasia of the fibula, Knee flexion contracture, Straight clavicles, Hip contracture, ... OMIM:259780
Gombo Syndrome
Clinodactyly, Brachydactyly, Radial deviation of finger OMIM:233270
Leri Pleonosteosis
Scoliosis, Cubitus valgus, Camptodactyly of finger, Broad thumb, Abnormality of finger, Elbow dis... ORPHA:2900
Palant Cleft Palate Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Contracture of the proximal ... OMIM:260150
Martsolf Syndrome 1
Cryptorchidism, Short phalanx of finger, Joint laxity, Slender ulna, Metatarsus adductus, Broad f... OMIM:212720
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Short thorax, Short metatarsal, Short phalanx of finger, Narrow chest, Respiratory... OMIM:617102
Gordon Syndrome
Scoliosis, Camptodactyly of finger, Talipes, Finger syndactyly, Pectus excavatum, Cleft palate, H... ORPHA:376
Neu-Laxova Syndrome 2
Scoliosis, Rocker bottom foot, Short neck, Cleft palate, High palate, Micrognathia, Depressed nas... OMIM:616038
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Clubbing of fingers, Penile hypospadias, Generalized bone demineralization, Abnormal bone ossific... ORPHA:73230
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Wide anterior fontanel, Ventricular septal defect, Short middle ... OMIM:113000
Achondrogenesis Type 1A
Long philtrum, Short thorax, Short neck, Short nose, Abnormal enchondral ossification, Narrow che... ORPHA:93299
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Enlarged thorax, Short neck, Depressed nasal bridge, Long philtrum, Short thorax, Hypoplastic pel... ORPHA:163654
Autosomal Recessive Omodysplasia
Long philtrum, Hypoplastic distal humeri, Craniosynostosis, Short nose, Elbow dislocation, Rhizom... ORPHA:93329
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Oligodontia, Platyspondyly, Metaphyseal irregularity, Narrow iliac wing, Joint contr... OMIM:601668
Cenani-Lenz Syndactyly Syndrome
Micrognathia, Hypoplasia of the radius, Syndactyly, Hypoplasia of the ulna OMIM:212780
Fibrochondrogenesis 2
Platyspondyly, Short nose, Thoracic hypoplasia, Hypoplastic ilia, Metaphyseal cupping, Hypoplasti... OMIM:614524
Liebenberg Syndrome
2-3 finger syndactyly, Joint contracture of the 5th finger, Abnormality of the carpal bones, Meta... OMIM:186550
Diamond-Blackfan Anemia 11
Hypoplasia of the radius, Radioulnar synostosis, Forearm reduction defects, Hypoplasia of the uln... OMIM:614900
Kniest Dysplasia
Delayed epiphyseal ossification, Abnormal cartilage collagen, Short neck, Depressed nasal bridge,... OMIM:156550
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Platyspondyly, Metaphyseal chondrodysplasia, Short middle phalanx of f... OMIM:156500
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Otopalatodigital Syndrome Type 1
Short hallux, Oligodontia, Abnormality of the tarsal bones, Elbow dislocation, Synostosis of carp... ORPHA:90650
Phocomelia, Schinzel Type
Abnormality of tibia morphology, High, narrow palate, Short neck, Micrognathia, Ectrodactyly, Hyp... ORPHA:2879
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Pectus carinatum, Delayed ossification of carpal bones, Kyphosis, Brachydactyly OMIM:618392
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Elbow dislocation, Micrognathia, Elbow flexion contracture, Femoral bowing, Short neck, Short fem... OMIM:210710
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Abnormal form of the vertebral bodies, Craniofacial hyperostosis... ORPHA:1802
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Lumbar scoliosis, Irregular vertebral endplates, Bowing of the legs, Lower limb un... OMIM:612847
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Scoliosis, Hyperlordosis, Large iliac wing, Abnormal thumb morphology, Abnormality of finger, Man... ORPHA:2511
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Limited elbow extension, Genu valgum, Upper limb undergrowth, Short metatarsa... OMIM:271650
Simpson-Golabi-Behmel Syndrome, Type 2
Congenital hip dislocation, Pneumonia, High palate, Short neck, Wide nose, Recurrent upper respir... OMIM:300209
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Short phalanx of finger, Bulbous nose, Sensorineural hearing impairment, Micrognathia, Coronal cl... OMIM:215150
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormality of the ulna ORPHA:1118
Achondrogenesis Type 1B
Long philtrum, Short thorax, Short neck, Short nose, Abnormal enchondral ossification, Narrow che... ORPHA:93298
Acrodysostosis 1 With Or Without Hormone Resistance
Scoliosis, Accelerated skeletal maturation, Cryptorchidism, Epiphyseal stippling, Short metatarsa... OMIM:101800
Cutis Laxa, Autosomal Recessive, Type Iid
Bulbous nose, Blepharophimosis, Camptodactyly, Bilateral cryptorchidism, Wide nasal bridge, Ingui... OMIM:617403
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Abnormality of the ribs, Bowing of the long bones, Intestinal malrotation, Tibial ... ORPHA:3035
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Mesomelic Dysplasia, Nievergelt Type
Scoliosis, Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostos... ORPHA:2633
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Hemivertebrae, Metatarsus adductus,... ORPHA:93322
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Scoliosis, Delayed closure of the anterior fontanelle, ... OMIM:311300
Cranioectodermal Dysplasia
Osteoporosis, Abnormal dental enamel morphology, Craniosynostosis, Taurodontia, Finger syndactyly... ORPHA:1515
Jeune Syndrome
Abnormal clavicle morphology, Abnormality of the ribs, Short thorax, Postaxial hand polydactyly, ... ORPHA:474
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Short thorax, Posterior rib fusion, Vertebral segmentation defect, Wide... ORPHA:1797
Arthrogryposis, Distal, Type 1C
Pursed lips, Scoliosis, Thin vermilion border, Narrow mouth, Wrist flexion contracture, Metacarpo... OMIM:619110
Boomerang Dysplasia
Underdeveloped nasal alae, Wide nasal bridge, Hypoplastic nasal septum, Hypoplastic iliac body, A... OMIM:112310
Occipital Horn Syndrome
Joint laxity, Narrow chest, Pes planus, Short clavicles, High palate, Osteoporosis, Limited elbow... OMIM:304150
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Narrow mouth, Narrow chest, Downturned corners of mouth, Mandibular prognathia, Short ... ORPHA:1327
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Scoliosis, Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Tracheal calcification... OMIM:271665
Mesomelia-Synostoses Syndrome
Abnormality of tibia morphology, Bulbous nose, Narrow mouth, Abnormality of the metacarpal bones,... ORPHA:2496
Ulbright-Hodes Syndrome
Thin vermilion border, Narrow mouth, Large beaked nose, Phocomelia, Abnormality of the ribs, High... ORPHA:3404
Brachydactyly Type C
Type C brachydactyly, Stippling of the epiphysis of the distal phalanx of the thumb, Short metata... ORPHA:93384
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Metaphyseal irregularity, Narrow chest, Hypoplastic ilia, Short greater sciatic no... OMIM:187601
Achondroplasia
Bowing of the legs, Flat acetabular roof, Narrow greater sciatic notch, Depressed nasal bridge, L... ORPHA:15
Cleidocranial Dysplasia
Scoliosis, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Sleep apnea, Open bit... ORPHA:1452
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Generalized bone demineralization, Joint laxity, Metaphyseal irregularity, Bowing of t... ORPHA:93352
Epiphyseal Dysplasia, Multiple, 6
Flat distal femoral epiphysis, Abnormality of the knee, Irregular epiphyses, Irregular vertebral ... OMIM:614135
Arms, Malformation Of
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna OMIM:107900
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Median cleft lip and palate, Short neck, Short nose, Large fontanelles, Dyspn... ORPHA:1832
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal ilium morphology, Abnormality of the knee, Platyspondyly, Abnormal vertebral morphology,... ORPHA:163665
Duane-Radial Ray Syndrome
Scoliosis, Choanal stenosis, Pes planus, Choanal atresia, Sandal gap, Absent radius, Short thumb,... OMIM:607323
Nicolaides-Baraitser Syndrome
Scoliosis, Wide nasal base, Cryptorchidism, Short metatarsal, Short phalanx of finger, Anteverted... OMIM:601358
C Syndrome
Scoliosis, Cryptorchidism, Omphalocele, Clitoral hypertrophy, Micrognathia, Dislocated radial hea... OMIM:211750
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Postaxial hand polydactyly, Brachydactyly, Short 2nd toe, Short thumb OMIM:176305
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Broad thumb, Absent nasal bridge, Joint laxity, Short neck, Rhizomelia, Short fing... OMIM:612813
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Cryptorchidism, Hemivertebrae, Sensorineural hearing impairment, Micropenis, Widely-spaced maxill... OMIM:301040
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Cryptorchidism, Macroglossia, Hypertelorism, Bulbous nose, Frontal bossing, Macrotia, Open mouth,... OMIM:616789
Kbg Syndrome
Scoliosis, Cryptorchidism, Oligodontia, Underdeveloped nasal alae, Thoracic kyphosis, Persistent ... ORPHA:2332
Ververi-Brady Syndrome
Scoliosis, Hypertelorism, Bulbous nose, Metaphyseal irregularity, Macrotia, High palate, Everted ... OMIM:617982
Pallister-Hall Syndrome
Cryptorchidism, Y-shaped metacarpals, Atresia of the external auditory canal, Natal tooth, Choana... OMIM:146510
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Postaxial oligodactyly, Aplasia/Hypoplasia of the fibula, Short foot, Talipes equinovarus, Brachy... ORPHA:52056
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Enamel hypoplasia, Bulbous nose, Anteverted nares, Mandibular prognathia, Sprengel anomaly, Sanda... OMIM:600991
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Platyspondyly, Craniosynostosis, Short neck, Short nose, Overlapping toe, Thick vermilion border,... OMIM:616723
Wiedemann-Rautenstrauch Syndrome
Scoliosis, Cryptorchidism, Delayed closure of the anterior fontanelle, Natal tooth, Broad eyebrow... OMIM:264090
Terminal Osseous Dysplasia
Mesomelic arm shortening, Camptodactyly of finger, Depressed nasal tip, Abnormal hand bone ossifi... OMIM:300244
Arthrogryposis, Distal, Type 3
Cryptorchidism, Arthrogryposis multiplex congenita, Short phalanx of finger, Congenital hip dislo... OMIM:114300
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Steinfeld Syndrome
Median cleft lip and palate, Hypoplasia of the radius, Abnormality of the vertebral column, Abnor... OMIM:184705
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal dental enamel morphology, Postaxial hand polydactyly, Elbow dislocation, Abno... ORPHA:2916
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Camptodactyly, Patent ductus arteriosus, Thin lower lip vermilion, Micropenis, Ana... ORPHA:363444
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Hand oligodactyly, Coalescence of tarsal bones, Cleft palate, Retrogna... OMIM:165590
Chromosome 16P13.3 Duplication Syndrome
Short phalanx of finger, Bulbous nose, Short nose, Camptodactyly, Pectus excavatum, Pes cavus, Sh... OMIM:613458
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Brachydactyly-Arterial Hypertension Syndrome
Brachydactyly, Short phalanx of finger, Short metacarpal ORPHA:1276
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hip dysplasia, Scoliosis, Mandibular prognathia, Kyphosis, Hypoplastic iliac wing, Abnormality of... ORPHA:1858
Czech Dysplasia
Scoliosis, Platyspondyly, Short toe, Short metatarsal, Thoracic kyphosis, Flexion contracture, Na... OMIM:609162
Saul-Wilson Syndrome
Talipes equinovarus, Platyspondyly, Convex nasal ridge, Short metatarsal, Wide anterior fontanel,... OMIM:618150
Spondylometaphyseal Dysplasia, Schmidt Type
Genu valgum, Platyspondyly, Hypoplastic pelvis, Short long bone, Metaphyseal dysplasia, Abnormali... ORPHA:93316
Hall-Riggs Syndrome
Scoliosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Platyspondyly, Anteverte... ORPHA:2107
Lethal Recessive Chondrodysplasia
Macroglossia, Narrow chest, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth... ORPHA:1423
Chondroectodermal Dysplasia With Night Blindness
Osteoporosis, Abnormality of the knee, Platyspondyly, Metaphyseal irregularity, Epiphora, Delayed... ORPHA:319195
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Short thorax, Abnormality of epiphysis morphology, Osteoarthritis, Micromelia ORPHA:93283
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Genu valgum, Short thorax, Platyspondyly, Narrow chest, Abnormality of epiphysis morph... ORPHA:93314
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Narrow mouth, Abnormality of the nares, Anal atresia, Abnormal... ORPHA:3469
Pelvis-Shoulder Dysplasia
Hypoplastic ischia, Acetabular dysplasia, Micrognathia, Fifth finger distal phalanx clinodactyly,... ORPHA:2839
Roifman Syndrome
Underdeveloped nasal alae, Downturned corners of mouth, Short digit, Narrow nose, Long philtrum, ... OMIM:616651
Diabetic Embryopathy
Cryptorchidism, Abnormal morphology of female internal genitalia, Frontal bossing, Ventricular se... ORPHA:1926
Frank-Ter Haar Syndrome
Scoliosis, Camptodactyly of finger, Delayed eruption of teeth, Osteolysis, Short philtrum, Genu r... ORPHA:137834
Urban-Rogers-Meyer Syndrome
Osteoporosis, Camptodactyly of finger, Cryptorchidism, Toe syndactyly, Short neck, Abnormality of... ORPHA:3409
Upper Limb Mesomelic Dysplasia
Radial bowing, Hypoplasia of the ulna, Ulnar deviation of finger ORPHA:2497
Renal Dysplasia-Limb Defects Syndrome
Convex nasal ridge, Hypoplasia of the radius, Fibular aplasia, Thin vermilion border, Narrow mout... OMIM:266910
Aminopterin Syndrome Sine Aminopterin
Cryptorchidism, Oligodontia, Short thumb, High palate, Micrognathia, Thoracic scoliosis, Low-set ... OMIM:600325
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Short thorax, Narrow chest, Hypoplastic pelvis, Hypoplastic scapulae, Micromelia, ... ORPHA:85166
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Death in infancy, Phocomelia, Edema... OMIM:274000
Rhizomelic Chondrodysplasia Punctata
Scoliosis, Epiphyseal stippling, Abnormality of epiphysis morphology, Rhizomelia, Abnormality of ... ORPHA:177
Emery-Nelson Syndrome
Camptodactyly of finger, Long philtrum, Abnormal thumb morphology, Contractures of the interphala... ORPHA:1927
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormal dental enamel morphology, Bulbous nose, Anteverted nares, Abnormal form of th... ORPHA:2180
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Oligodontia, Craniosynostosis, Short metatarsal, Short phalanx... ORPHA:1826
Pyle Disease
Scoliosis, Limited elbow extension, Genu valgum, Delayed eruption of teeth, Carious teeth, Platys... OMIM:265900
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Massively thickened long bone cortices, Pectus excavatum, Limb undergrowth, Kyphoscoliosis, Brach... OMIM:122900
Peripheral Dysostosis
Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger OMIM:170700
Laurin-Sandrow Syndrome
Tarsal synostosis, Underdeveloped nasal alae, Downturned corners of mouth, Abnormality of the met... ORPHA:2378
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Short metatarsal, Pseudohypoparathyro... OMIM:612463
Cerebrocostomandibular Syndrome
Scoliosis, Anomalous tracheal cartilage, Congenital hip dislocation, High palate, Elbow flexion c... OMIM:117650
Wolf-Hirschhorn Syndrome
Scoliosis, Cryptorchidism, Abnormality of the philtrum, Downturned corners of mouth, Calvarial sk... ORPHA:280
Shprintzen-Goldberg Craniosynostosis Syndrome
Scoliosis, Joint hypermobility, Cryptorchidism, Craniosynostosis, Joint laxity, Camptodactyly, Me... OMIM:182212
Disorganization, Mouse, Homolog Of
Sacral meningocele, Limb duplication, Hand polydactyly, Cleft upper lip, Cleft palate, Hip disloc... OMIM:223200
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Narrow chest, Patent ductus arteriosus, Hemiver... OMIM:213980
Acrootoocular Syndrome
Small hypothenar eminence, Atresia of the external auditory canal, Grayish enamel, Sandal gap, Se... ORPHA:2980
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Narrow palate, Split hand, Hemivertebrae, Phocomelia, High palate, Elbow fl... OMIM:276820
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Squared iliac bones, Short nose, Narrow chest, Deep philtrum, Dysplastic sacrum, Metaphyseal cupp... OMIM:613320
Opsismodysplasia
Squared iliac bones, Broad thumb, Short nose, Narrow chest, Abnormality of epiphysis morphology, ... ORPHA:2746
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Hypoplasia of the radius, Finger syndactyly, Hypoplasia of the ulna, Non... ORPHA:246
Dyschondrosteosis And Nephritis
Radial bowing, Short forearm, Madelung deformity, Short tibia, Ulnar bowing OMIM:127350
Dysostosis, Stanescu Type
Scoliosis, Carious teeth, Massively thickened long bone cortices, Abnormal dental enamel morpholo... ORPHA:1798
Larsen Syndrome
Scoliosis, Cryptorchidism, Short metatarsal, Joint laxity, Elbow dislocation, Spina bifida occult... OMIM:150250
Restrictive Dermopathy, Lethal
Natal tooth, Choanal atresia, Entropion, Overtubulated long bones, Micrognathia, Thin clavicles, ... OMIM:275210
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia, Ab... OMIM:246570
Distal Trisomy 5Q
Long philtrum, Hypoplasia of the radius, Carious teeth, Craniosynostosis, Short nose, Thin vermil... ORPHA:96097
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Narrow chest, Horizontal ribs, Intestinal malrotation, Hamartom... OMIM:263520
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Tarsal synostosis, Narrow chest, Mandibular prognathia, Hemivertebrae, Hypopla... OMIM:263540
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Narrow chest, Short distal phalanx of finger, Ulnar bowing, Thin clavicles, Na... OMIM:210720
Brachydactyly, Combined B And E Types
Broad distal phalanx of finger, Short fifth metatarsal, Short 4th metacarpal, Broad thumb, Short ... OMIM:112440
Arthrogryposis And Ectodermal Dysplasia
Abnormal dental enamel morphology, Arthrogryposis multiplex congenita, Blepharophimosis, Atypical... OMIM:601701
Arthrogryposis, Distal, Type 2B2
Overlapping fingers, Narrow mouth, Camptodactyly, Talipes equinovalgus, Adducted thumb, Sandal ga... OMIM:618435
Moebius Syndrome
Arthrogryposis multiplex congenita, Short phalanx of finger, Split hand, Camptodactyly, Congenita... OMIM:157900
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Wide nasal bridge, Abnormality of the ribs, Diaphyseal thickening, Dep... ORPHA:1513
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Generalized joint laxity, Lumbar hyperlordosis, Irregular patellae, Patellar hypoplasia, Genu var... OMIM:609325
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip dysplasia, Shortening of all distal phalanges of the fingers, Short neck, Bulbous nose, High ... OMIM:616809
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Broad thumb, Thoracic kyphosis, Mandibular prognathia, Hypermobility of i... ORPHA:508498
Familial Anetoderma
Abnormality of tibia morphology, Generalized joint laxity, Irregular dentition, Lumbar hyperlordo... ORPHA:228277
Schinzel-Giedion Syndrome
Scoliosis, Wormian bones, Choanal stenosis, Camptodactyly, Abnormality of the stapes, Abnormal th... ORPHA:798
Sillence Syndrome
Scoliosis, Large iliac wing, Broad thumb, Abnormal proximal phalanx morphology of the hand, Campt... ORPHA:3168
Greenberg Dysplasia
Epiphyseal stippling, Tracheal calcification, Short phalanx of finger, Narrow chest, Omphalocele,... OMIM:215140
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Finger syndactyly, Abnormal form of the vertebral bodies, Limb undergrowth, Ab... ORPHA:3429
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Thoracic hypoplasia, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Hypo... OMIM:617866
Smith-Magenis Syndrome
Scoliosis, Mandibular prognathia, Oral cleft, Abnormal tracheobronchial morphology, Abnormality o... OMIM:182290
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type