Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
low density lipoprotein receptor-related protein 4
Synonyms:
mdig,  6430526J12Rik,  Megf7

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Lrp4 mutations

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

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

The table below shows human diseases predicted to be associated to Lrp4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Incisors, Rotation Of Upper Central
Rotated maxillary central incisors OMIM:147350
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Diastema, Dental Medial
Diastema, Widely-spaced maxillary central incisors OMIM:125900
Brachydactyly, Type D
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly OMIM:113200
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Tooth Agenesis, Selective, 9
Microdontia, Taurodontia, Selective tooth agenesis OMIM:617275
Sugarman Brachydactyly
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... OMIM:272150
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormal finger morphology OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Brachydactyly, Type A3
Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... OMIM:112700
Taurodontism
Taurodontia OMIM:272700
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... ORPHA:85169
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... OMIM:606835
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Cleidorhizomelic Syndrome
Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph... ORPHA:1453
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Brachydactyly, Type A1, C
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... OMIM:615072
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Thiemann Disease, Familial Form
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:3314
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Triphalangeal Thumbs With Brachyectrodactyly
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly OMIM:190680
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Brachydactyly, Type A4
Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Type A brachydact... OMIM:112800
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Brachydactyly, Type A1, B
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... OMIM:607004
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology ORPHA:2730
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... ORPHA:93396
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia OMIM:172880
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Dentin Dysplasia
Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Brachydactyly, Type A1
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... OMIM:112500
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal thumb morphology, Type A brachydactyly, Abnormal metacarpal morphology ORPHA:1078
Brachydactyly, Type A2
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... OMIM:112600
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Heart-Hand Syndrome, Spanish Type
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly OMIM:140450
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Banki Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... ORPHA:1228
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Brachydactyly, Type A2, With Microcephaly
Type A2 brachydactyly, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips,... OMIM:211369
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... OMIM:615170
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Gombo Syndrome
Clinodactyly, Radial deviation of finger, Brachydactyly OMIM:233270
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Trichodentoosseous Syndrome
Microdontia, Taurodontia, Widely spaced teeth OMIM:190320
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Polydactyly, Preaxial I
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... OMIM:174400
Coloboma Of Macula With Type B Brachydactyly
Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph... OMIM:120400
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia ORPHA:71289
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... OMIM:611263
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... OMIM:609432
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia OMIM:226650
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Scarring alopecia of scalp, Dental enamel pits OMIM:619787
Chromosome 2Q31.1 Duplication Syndrome
Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb OMIM:613681
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... OMIM:618167
Polydactyly, Postaxial, Type A10
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A OMIM:618498
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Anonychia-Microcephaly Syndrome
Clinodactyly of the 5th finger, Abnormality of the dentition, Carious teeth, Bilateral single tra... ORPHA:1094
Cooks Syndrome
Split hand, Triphalangeal thumb, Dystrophic fingernails, Broad thumb, Dystrophic toenail, Brachyd... ORPHA:1487
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Multiple Synostoses Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa... ORPHA:3237
Hirschsprung Disease With Type D Brachydactyly
Short thumb, Type D brachydactyly OMIM:306980
Arthrogryposis, Distal, Type 2B2
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor... OMIM:618435
Coloboma Of Macula-Brachydactyly Type B Syndrome
Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger ORPHA:1471
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... ORPHA:93409
Metacarpal 4-5 Fusion
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... OMIM:309630
Brachydactyly Type C
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... ORPHA:93384
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Acrorenal Syndrome
Hand oligodactyly OMIM:102520
Polydactyly, Postaxial, Type A9
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:618219
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft... ORPHA:3104
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... ORPHA:477781
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... OMIM:186350
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... OMIM:183600
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Tetrasomy X
Premature ovarian insufficiency, Abnormality of the dentition, Radioulnar synostosis, Hip dysplas... ORPHA:9
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Abnormali... ORPHA:2501
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Symphalangism, Distal
Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin creases over affecte... OMIM:185700
2q37 monosomy
Brachydactyly DECIPHER:44
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly ORPHA:2935
Feingold Syndrome Type 2
Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly ORPHA:391646
Eiken Syndrome
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... ORPHA:79106
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the hand, Abnormality of the dentition, Supernumerary tooth, Oligodontia, Short 5t... ORPHA:1264
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... OMIM:226900
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly OMIM:112410
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... OMIM:186570
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1566
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly OMIM:615938
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Kyphosis, Dental malocclusion... ORPHA:1858
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau... ORPHA:3352
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Short thumb, Brachydactyly ORPHA:435804
Tetramelic Monodactyly
Split foot, Split hand, Foot monodactyly, Hand monodactyly OMIM:187510
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Renal agenesis, Abnormal lung morphology, Cleft palate, Upper limb phocomelia, Stillb... ORPHA:294975
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Short thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe OMIM:176305
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... ORPHA:40
Peripheral Dysostosis
Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly ORPHA:1795
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:3145
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... ORPHA:1319
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Chromosome 15Q13.3 Deletion Syndrome
Clinodactyly of the 5th finger, Synophrys, Brachydactyly OMIM:612001
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d... ORPHA:1275
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Rocker bottom foot, Single transverse palmar crease, Micr... OMIM:611890
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon, Unilateral renal agenesis OMIM:235740
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly OMIM:600384
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Stimmler Syndrome
Microdontia, Abnormal dental enamel morphology ORPHA:3199
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Tooth Agenesis, Selective, 3
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia OMIM:604625
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Polydactyly, Postaxial, Type A7
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... OMIM:617642
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Abnormal palate morphology... ORPHA:1277
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis OMIM:618845
17Q11.2 Microduplication Syndrome
Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology ORPHA:139474
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly OMIM:604381
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B... OMIM:609052
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Tapered finger, Short finger, Death in childhood, Acrocyanosis OMIM:302000
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Toe syndactyly, Absent middle phalanx of 5th finger, Nail dystrophy, Triphalangeal thumb, Bilater... OMIM:124480
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Split hand, Absent hand, Oligodactyly ORPHA:2440
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Bowing of the legs, Secondary amenorrhea, Irregular vertebral endplates, Platyspo... OMIM:612847
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Enamel hypoplasia, Retrognathia, High palate OMIM:617915
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Brachydactyly, Type E2
Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly OMIM:613382
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Humeroradial synostosis, Arachnodactyly, Oligodactyly OMIM:614416
Smith-Magenis syndrome
Brachydactyly DECIPHER:8
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
2-4 finger syndactyly, Sparse scalp hair, Sparse eyelashes, 1-4 finger syndactyly, Sparse eyebrow... OMIM:225280
Trichorhinophalangeal Syndrome, Type Iii
Thin upper lip vermilion, Short metacarpal, Dental crowding, Avascular necrosis of the capital fe... OMIM:190351
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Camptobrachydactyly
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly OMIM:114150
Emery-Nelson Syndrome
Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Low ... ORPHA:1927
Orofaciodigital Syndrome Type 10
Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ... ORPHA:2756
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Enamel hypoplasia, Atrophic scars, Oral mucosal blisters ORPHA:79402
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Metatarsal... OMIM:612961
Hirschsprung Disease-Type D Brachydactyly Syndrome
Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly ORPHA:2150
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Waardenburg Syndrome Type 3
Tented upper lip vermilion, Camptodactyly of finger, Atelectasis, White hair, Abnormal finger mor... ORPHA:896
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Atrophic scars, Enamel hypoplasia OMIM:226700
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly ORPHA:2956
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the... ORPHA:429
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... ORPHA:2972
Charlie M Syndrome
Finger syndactyly, Micrognathia, Narrow mouth, Non-midline cleft lip, Split hand, Tooth agenesis,... ORPHA:1406
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Abnormal form of the vertebral bodies, Abnormal pelvic girdle bone morphology, Hip ... ORPHA:2370
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly OMIM:619248
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent... ORPHA:1350
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Abn... ORPHA:750
Summitt Syndrome
Syndactyly OMIM:272350
Weyers Acrofacial Dysostosis
Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge... OMIM:193530
Hypochondroplasia
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Flared metaphysis, Short lo... OMIM:146000
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Pyle Disease
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... OMIM:265900
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal mo... ORPHA:1307
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Synophrys, Abnormality of the elbow, Radioulnar synostosis, Clinodactyly of th... ORPHA:3268
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of... ORPHA:370010
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Eng-Strom Syndrome
Camptodactyly of finger, Scoliosis, Brachydactyly ORPHA:1937
Heimler Syndrome 2
Dental crowding, Amelogenesis imperfecta OMIM:616617
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia OMIM:183300
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... OMIM:609616
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Metaphyseal widening, Dental malocclusion, ... OMIM:608940
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture OMIM:203550
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... ORPHA:2639
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Enamel hypoplasia OMIM:613576
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias... OMIM:617927
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... OMIM:112910
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Trichodental Dysplasia
Odontodysplasia, Hypodontia, Conical tooth OMIM:601453
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Enamel hypoplasia, Thick vermilion border ORPHA:363523
Bardet-Biedl Syndrome 7
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Jalili Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta ORPHA:1873
Bardet-Biedl Syndrome 18
Brachydactyly OMIM:615995
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Chromosome 20Q11-Q12 Deletion Syndrome
Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb OMIM:614257
Brachydactyly-Preaxial Hallux Varus Syndrome
Short metacarpal, Preaxial hand polydactyly, Radial club hand, Synophrys, Short metatarsal, Broad... ORPHA:1278
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Filippi Syndrome
Single transverse palmar crease, 2-4 toe syndactyly, Postnatal growth retardation, Cutaneous synd... OMIM:272440
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Thoracolumbar scoliosis, Aplasia/Hypoplasia o... OMIM:113000
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the dentition, Cryptorchidism, Hypogonadism, Polydactyly, Brachydactyly OMIM:615982
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Single transverse palmar crease, Micrognathia, Narrow mouth, Fibular hypoplasia,... OMIM:201170
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... ORPHA:3258
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Microretrognathia, Inguinal hernia, Hip contracture, Micrognathia, Carious... OMIM:618363
Rubinstein-Taybi Syndrome 2
Syndactyly, Broad hallux, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow pa... OMIM:613684
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... OMIM:605282
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Overlapping toe, Postaxial polydactyly, Unilateral renal agenesis, M... OMIM:618142
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metacarpal, Short metatarsal, Brachydactyly OMIM:113400
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth ORPHA:248
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Brachydactyly, Single transverse palmar crease, Dental malocc... OMIM:601957
Feingold Syndrome 2
Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyly, Short middle phalanx of ... OMIM:614326
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... ORPHA:166016
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetabular spurs, Bra... OMIM:617405
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Atkin-Flaitz Syndrome
Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor... ORPHA:1193
Brachydactyly Type E
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... ORPHA:93387
Hall-Riggs Syndrome
Metaphyseal dysplasia, Kyphosis, Thick lower lip vermilion, Microdontia of primary teeth, Irregul... OMIM:234250
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Gen... ORPHA:2831
Acromicric Dysplasia
Short metacarpal, Ovoid vertebral bodies, Narrow mouth, Thick lower lip vermilion, Small hand, Ab... ORPHA:969
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... ORPHA:1113
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short metatarsal, Irregular vertebral endplates, Hypoplas... OMIM:271700
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... ORPHA:2325
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Unilateral renal agenesis, Micrognathia,... ORPHA:245
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Metaphyseal Acroscyphodysplasia
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... ORPHA:1240
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Nail dystrophy, Sparse hair, Tiger tail banding, Brachydactyly OMIM:619692
Polydactyly, Postaxial, With Progressive Myopia
Postaxial hand polydactyly OMIM:174310
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Odontochondrodysplasia 1
Respiratory distress, Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger... OMIM:184260
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca... ORPHA:251393
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla... ORPHA:1856
Braddock Syndrome
Neonatal respiratory distress, Abnormal hair pattern, Unilateral renal agenesis, Micrognathia, Pr... ORPHA:52047
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Cryptorchidism, Thin vermilion border, Brachydactyly ORPHA:3303
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... OMIM:265120
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... ORPHA:1946
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short metatarsal, Type E brachydactyly, Short 4th metacarpal OMIM:113301
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Facial palsy, Abnormal motor nerve conduction velo... OMIM:614399
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... ORPHA:968
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta ORPHA:71267
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Brachydactyly ORPHA:35099
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... ORPHA:75508
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Anauxetic Dysplasia 2
Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb... OMIM:617396
Junctional Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia ORPHA:79405
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors OMIM:610706
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Cough, A... ORPHA:70589
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot DECIPHER:46
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... ORPHA:93323
Acrootoocular Syndrome
Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased pal... ORPHA:2980
Perching Syndrome
Respiratory distress, Cyanosis, High palate, Camptodactyly OMIM:617055
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
20Q11.2 Microdeletion Syndrome
Finger clinodactyly, Adducted thumb, Camptodactyly, Brachydactyly ORPHA:444051
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Preaxial hand polydactyly, K... ORPHA:3098
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Ectopi... ORPHA:2919
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi... ORPHA:93308
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... OMIM:112450
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Brachydactyly OMIM:248300
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Brachydactyly, Short distal phalanx of finger ORPHA:2787
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia, Increased connective tissue OMIM:226670
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Sillence Syndrome
Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Chess-pawn... ORPHA:3168
Acromicric Dysplasia
Short metacarpal, Ovoid vertebral bodies, Narrow mouth, Deep philtrum, Thick lower lip vermilion,... OMIM:102370
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu... OMIM:602418
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo... ORPHA:1952
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Short pha... OMIM:177170
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Thoracic hemivertebrae, Brac... ORPHA:1436
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ... OMIM:610913
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... OMIM:601216
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Cle... ORPHA:2631
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Brachydactyly, Hyperlordosis, Abnormal thumb morphology, Abnormal metacarp... ORPHA:2511
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Mandibular prognathia, Lumbar hyperlordosis, Broad hallux, Short thumb, Brachydactyly OMIM:165800
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Ectopic kidney, Abnorm... OMIM:146510
Burn-Mckeown Syndrome
Mandibular prognathia, Unilateral renal agenesis, Micrognathia, Cleft upper lip, 2-3 toe syndacty... OMIM:608572
Liang-Wang Syndrome
Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi... OMIM:618729
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Thin upper lip vermilion, Abnormality of the hand, Downturned corners of mouth, Abnormality of th... ORPHA:521308
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Everted upper lip vermilion, Sandal gap, Rocker bottom foot, Single transverse pal... OMIM:619951
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, Cryptorchidism, Synophrys, 2-3 toe syndactyly, High palate, Talipes eq... ORPHA:3306
Cleidocranial Dysplasia 2
Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Delayed eruptio... OMIM:620099
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Clinodactyly, Brachydactyly OMIM:610023
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-... ORPHA:79126
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... OMIM:308050
Late-Onset Junctional Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia ORPHA:79406
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal ORPHA:228190
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Recurrent respiratory infections, Cutis marmorata, Absence of renal corticomedullary differentiat... OMIM:619758
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Enamel hypoplasia, Hypodontia OMIM:616029
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Renal cy... OMIM:236500
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Pili Torti
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:2889
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Toe syndactyly, Split foot OMIM:183700
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Conical incisor, Enamel hypoplasia OMIM:614564
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Polydacty... ORPHA:65759
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis OMIM:617661
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, ... ORPHA:2928
Brachydactyly, Type E1
Short metacarpal, Short metatarsal, Short clavicles, Multiple impacted teeth, Type E brachydactyl... OMIM:113300
Cardiospondylocarpofacial Syndrome
High, narrow palate, Abnormal form of the vertebral bodies, Short palm, Failure of eruption of pe... ORPHA:3238
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped... OMIM:156530
Phenobarbital Embryopathy
Mandibular prognathia, Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Malar flattening, Bra... ORPHA:1919
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... ORPHA:1452
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
48,Xyyy Syndrome
Thick lower lip vermilion, Irregularly spaced teeth, High palate, Long philtrum, Enamel hypoplasia ORPHA:99329
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... OMIM:135750
Hogue-Janssen Syndrome 2
Tented upper lip vermilion, Broad hallux, Unilateral renal agenesis, Postaxial polydactyly, Abnor... OMIM:616362
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Abnormal acetabul... ORPHA:166011
Orofaciodigital Syndrome Iii
Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydactyly, Shor... OMIM:258850
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
High anterior hairline, Sparse lateral eyebrow, Brachydactyly OMIM:618879
Intellectual Disability, Birk-Barel Type
Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow palate, Incisor ma... ORPHA:166108
Nance-Horan Syndrome
Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor OMIM:302350
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Broad palm, Genu val... OMIM:300602
Keipert Syndrome
Broad hallux, Exaggerated cupid's bow, Downturned corners of mouth, Broad distal phalanx of finge... OMIM:301026
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Microcephalic Primordial Dwarfism, Toriello Type
Downturned corners of mouth, Enamel hypoplasia ORPHA:2643
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Hand muscle atrophy, Abnormal lower motor neuron morphology, Hand muscle weakness OMIM:607641
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... ORPHA:93314
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Joint contracture of the hand, Respiratory insufficiency ... OMIM:611067
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Hamartoma of tongue, Atelectasi... OMIM:269860
Multiple Synostoses Syndrome 2
Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equinovarus, Carpal syn... OMIM:610017
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Abnormality of the seventh cranial n... ORPHA:90117
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Overlapping toe, Abnormality of the kidney, Hypospadias, Unil... ORPHA:363444
Maxillonasal Dysplasia, Binder Type
Patchy distortion of vertebrae, Vertebral clefting, Dental malocclusion, Short distal phalanx of ... OMIM:155050
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora... ORPHA:77258
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Clinodactyly, Hypoplastic pubic bone, C... OMIM:184250
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Short metacarpal, Brachydactyly, Unilateral ren... OMIM:101800
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Respiratory failure, Tongue fasciculations, Hypoplasia of the capital femora... OMIM:600561
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Aurocephalosyndactyly
4-5 toe syndactyly OMIM:109050
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate OMIM:217150
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micro... OMIM:600325
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Down-sloping shoulders, Carious teeth, Scoliosis, Clinodactyly of the 5th finger, Malar flattenin... ORPHA:1390
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Osteolysis in... ORPHA:88630
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Abnormality of t... ORPHA:1515
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... ORPHA:93320
Hyperekplexia 4
Respiratory failure, High palate, Talipes equinovarus, Camptodactyly, Umbilical hernia, Adducted ... OMIM:618011
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:757
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Hip dysplasia, Short middle phalanx of finger, Abnormal epiphysis morp... ORPHA:63442
Multiple Synostoses Syndrome 4
Overlapping toe, Tarsal synostosis, Brachydactyly OMIM:617898
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Absent radius, Micrognathia, Humeroradial synostosis, Cleft palate, For... OMIM:251230
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Cryptorchidism, Radio... OMIM:194350
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly OMIM:618392
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor, Brachydactyly, Single transverse palmar crease, Adducted thumb OMIM:620062
Craniosynostosis 3
Hallux valgus, Dental malocclusion, Single transverse palmar crease, Brachydactyly OMIM:615314
Pfeiffer Syndrome
Mandibular prognathia, Finger syndactyly, Brachydactyly, Hyperlordosis, Symphalangism affecting t... ORPHA:710
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Coxa valga, Genu valgum, Narrow mouth, Short phalanx of finger, Brachydactyly OMIM:132450
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... ORPHA:380
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal... ORPHA:93307
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ... OMIM:251450
Terminal Osseous Dysplasia
Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh... OMIM:300244
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Tachypnea,... OMIM:610978
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Enamel hypoplasia OMIM:612463
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Nance-Horan Syndrome
Mandibular prognathia, Supernumerary tooth, Abnormality of the dentition ORPHA:627
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb ORPHA:2091
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Short metacarpal, Rhizomelia, Kyphoscoliosis, Abnormality of the elbow... ORPHA:263463
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Enamel hypoplasia, Amelogenesis imperfecta OMIM:245660
Seckel Syndrome 5
Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypodontia, Ename... OMIM:613823
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus OMIM:600121
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... OMIM:228900
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney OMIM:601076
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
Heart-Hand Syndrome, Slovenian Type
Brachydactyly ORPHA:168796
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Achilles tendon contracture, Dental malocclusion, Widely-spaced maxilla... OMIM:619719
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... ORPHA:2141
Adams-Oliver Syndrome 3
Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho... OMIM:614814
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy OMIM:600057
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing... ORPHA:3210
Self-Improving Dystrophic Epidermolysis Bullosa
Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters ORPHA:79411
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Brachydactyly OMIM:613819
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti... ORPHA:69087
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Alopecia, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Trip... ORPHA:2251
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Micrognathia, 2-3 toe syndactyly, Gingival overgrowth,... OMIM:618186
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... OMIM:252100
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Absent lower eyelashes, Fo... OMIM:154400
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology OMIM:183020
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, Overlapping toe, Unilateral renal agenesis, High, narrow palate, Crypto... OMIM:618494
Muenke Syndrome
Broad hallux, Capitate-hamate fusion, Dental malocclusion, Cone-shaped epiphyses of the phalanges... OMIM:602849
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Clubbing, Intraalve... OMIM:610910
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of... ORPHA:957
Leri Pleonosteosis
Camptodactyly of finger, Elbow dislocation, Abnormal finger morphology, Abnormal form of the vert... ORPHA:2900
Gordon Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger ORPHA:376
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... ORPHA:1426
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Cleft... OMIM:614078
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Kyphosis, Premature lo... ORPHA:137834
Jeune Syndrome
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Takenouchi-Kosaki Syndrome
Proximal placement of thumb, Synophrys, Downturned corners of mouth, Short philtrum, Widely space... OMIM:616737
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Thin upper lip vermilion, Cryptorchidism, Small hand, Wide mouth, Broad finger, Long philtrum, Cl... OMIM:614684
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Avascular necrosis of the capital... OMIM:132400
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Stag... OMIM:615993
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Unilateral renal agenesis, Postaxial polydactyly, Optic atrophy, Hip dysplasia,... OMIM:614576
Acrodysostosis
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Abnormal form of ... ORPHA:950
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Kyphosis, Cry... ORPHA:3409
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars... OMIM:617102
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory insufficiency, Respiratory failure, Tongue fascicul... OMIM:253300
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Trichorhinophalangeal Syndrome Type 2
Thin upper lip vermilion, Bilateral single transverse palmar creases, Abnormality of the dentitio... ORPHA:502
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Bilateral cleft palate, Unilateral renal agenesis, Absent thumb, Unilater... OMIM:614900
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... ORPHA:2751
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Ureteral stenosis, Cyanosis, Apn... ORPHA:2257
Mulibrey Nanism
Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocclusion, Hypodo... OMIM:253250
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna... OMIM:165590
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Legg-Calvé-Perthes Disease
Cartilage destruction, Abnormality of the dentition ORPHA:2380
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Femoral retroversion, Micrognathia, Fetal pyelectasis, Tali... OMIM:616531
Atelosteogenesis, Type Ii
Death in infancy, Sandal gap, Micromelia, Micrognathia, Bifid humerus, Flat acetabular roof, Shor... OMIM:256050
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Renal hypoplasia... ORPHA:2863
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Bilateral renal agenesis, Pulmonary hypoplasia OMIM:619887
Intellectual Developmental Disorder, Autosomal Dominant 21
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