Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 associated to Lrp4 by orthology or direct annotation.

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

Disease Similarity of
Matching phenotypes Source
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Dens In Dente And Palatal Invaginations
Abnormality of the dentition, Dens in dente OMIM:125300
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Pulp calcification, Taurodontia, Microdontia OMIM:313490
Tooth Agenesis, Selective, 3
Microdontia, Oligodontia OMIM:604625
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta OMIM:615887
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Amelogenesis imperfecta, Increased overbite, Enamel hypoplasia OMIM:617297
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Microdontia, Amelogenesis imperfecta OMIM:301200
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Incisors, Rotation Of Upper Central
Rotated maxillary central incisors OMIM:147350
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypomineralization, Enamel hypoplasia, Amelogenesis imperfecta OMIM:614832
Diastema, Dental Medial
Diastema, Widely-spaced maxillary central incisors OMIM:125900
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Brachydactyly, Type D
Type D brachydactyly, Broad distal phalanx of the thumb, Broad distal phalanx of the hallux OMIM:113200
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, Short 5th finger, 4-5 finger syndactyly OMIM:186100
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Type Ia
Taurodontia, Generalized microdontia, Amelogenesis imperfecta OMIM:104530
Dentin Dysplasia, Type I
Microdontia, Periapical bone loss, Pulp obliteration, Abnormality of dental morphology, Taurodont... OMIM:125400
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis i... OMIM:204700
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormality of finger OMIM:187390
Sugarman Brachydactyly
Double first metacarpals, Proximal placement of hallux, Short proximal phalanx of finger, Symphal... OMIM:272150
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Brachydactyly, Type A3
Cone-shaped epiphysis, Rhomboid or triangular shaped 5th finger middle phalanx, Short middle phal... OMIM:112700
Taurodontia OMIM:272700
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis imperfecta OMIM:612529
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Enamel hypomineralization, Anterior open-bite malocclusion, Amelogenesis imperfecta OMIM:617217
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux OMIM:234280
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Familial Digital Arthropathy-Brachydactyly
Short middle phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... ORPHA:85169
Long-Thumb Brachydactyly Syndrome
Long thumb, Brachydactyly, Short finger OMIM:112430
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Taurodontia, Oligodontia OMIM:272980
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Syndactyly Type 3
Short toe, Camptodactyly of finger, Finger syndactyly ORPHA:93404
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Dental enamel pits, ... OMIM:616221
Amelogenesis Imperfecta, Type Iv
Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104510
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Amelogenesis Imperfecta
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... ORPHA:88661
Dentinogenesis Imperfecta, Shields Type Iii
Periapical bone loss, Anterior open-bite malocclusion, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis OMIM:263450
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Mental Retardation, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... OMIM:174500
Synpolydactyly 1
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... OMIM:186000
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Regional Odontodysplasia
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... ORPHA:83450
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Amelogenesis imperfecta, Dental malocclusion OMIM:130900
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Short middle phalanx of finger, Short distal phalanx of toe, Radial devia... OMIM:606835
Cleidorhizomelic Syndrome
Diaphyseal thickening, Rhizomelia, Short middle phalanx of the 5th finger, Bilateral single trans... ORPHA:1453
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Brachydactyly, Type A1, C
Short middle phalanx of the 3rd finger, Short middle phalanx of the 4th finger, Short middle phal... OMIM:615072
Liebenberg Syndrome
Metaphyseal widening, Brachydactyly, Radially deviated wrists, 2-3 finger syndactyly, Abnormality... OMIM:186550
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Brachydactyly, Type C
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... OMIM:113100
Syndactyly, Type Iv
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... OMIM:186200
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Brachydactyly, Short thumb, Short 2nd toe, Postaxial hand polydactyly OMIM:176305
Thiemann Disease, Familial Form
Abnormality of epiphysis morphology, Abnormality of the metaphysis, Brachydactyly ORPHA:3314
Ectrodactyly-Polydactyly Syndrome
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... ORPHA:1892
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Triphalangeal Thumbs With Brachyectrodactyly
Triphalangeal thumb, Split hand, Short 3rd toe, Short 2nd finger, Brachydactyly, Split foot OMIM:190680
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Brachydactyly, Type A4
Aplasia of the middle phalanges of the toes, Type A brachydactyly, Short middle phalanx of the 2n... OMIM:112800
Acrocephalopolysyndactyly Type Iv
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi... OMIM:201020
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... OMIM:610713
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Anterior open-bite malocclusi... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion, Hypocalcification of de... OMIM:618386
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb OMIM:174200
Postaxial Tetramelic Oligodactyly
Oligodactyly, Ectrodactyly, Abnormality of the metacarpal bones, Abnormality of finger ORPHA:2730
Polydactyly, Preaxial Iv
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... OMIM:174700
Syndactyly-Polydactyly-Earlobe Syndrome
1-2 toe complete cutaneous syndactyly, Broad toe, Preaxial hand polydactyly, Bifid distal phalanx... OMIM:186350
Brachydactyly Type A2
Short middle phalanx of finger, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short... ORPHA:93396
Brachydactyly, Type A1, B
Short middle phalanx of finger, Short 5th metacarpal, Radial deviation of finger, Short distal ph... OMIM:607004
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormality of the upper limb, Finger syndactyly, Bilateral single transverse palmar creases, Cli... ORPHA:1891
Symphalangism With Multiple Anomalies Of Hands And Feet
Toe syndactyly, Reduced proximal interphalangeal joint space, Cutaneous finger syndactyly, Proxim... OMIM:185750
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... ORPHA:99798
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Cleft palate, Hand oligodactyly, Pierre-Robin sequence OMIM:172880
Syndactyly Type 5
2-3 toe syndactyly, Metacarpal synostosis, Ulnar deviation of finger, 3-4 finger syndactyly, Shor... ORPHA:93406
Symphalangism With Multiple Anomalies Of Hands And Feet
Toe syndactyly, Reduced proximal interphalangeal joint space, Symphalangism of the 5th finger, Ab... ORPHA:3246
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Syndactyly, Type V
Cutaneous finger syndactyly, 4-5 toe syndactyly, Joint contracture of the hand, 3-4 toe syndactyl... OMIM:186300
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta OMIM:603641
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal thumb morphology, Abnormality of the metacarpal bones, Type A brachydactyly ORPHA:1078
Brachydactyly, Type A1
Broad palm, Radial deviation of the 3rd finger, Slender metacarpals, Radial deviation of the 4th ... OMIM:112500
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Banki Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormality of the met... ORPHA:1228
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly OMIM:140450
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Brachydactyly, Type A2, With Microcephaly
Thumbs hypoplastic with bulbous tips, Absent middle phalanx of 2nd finger, Type A2 brachydactyly,... OMIM:211369
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Wahab Syndrome
Adducted thumb, Short foot, Syndactyly, Short thumb, Short metacarpal, Short palm, Camptodactyly,... OMIM:615170
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Talipes equinovarus, Split hand, Oligodactyly, Ectrodactyly, Brachydactyly OMIM:612576
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Syndactyly, Split foot, Short finger OMIM:314360
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Enamel hypoplasia OMIM:614564
Banki Syndrome
Radial deviation of finger, Clinodactyly OMIM:109300
Gombo Syndrome
Radial deviation of finger, Clinodactyly, Brachydactyly OMIM:233270
Trichodentoosseous Syndrome
Widely spaced teeth, Taurodontia, Microdontia OMIM:190320
Spondylometaphyseal Dysplasia, East African Type
Genu varum, Metaphyseal widening, Rounded epiphyses, Ovoid vertebral bodies, Coxa vara, Short lon... OMIM:611702
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Otodental Dysplasia
Hypodontia, Pulp calcification, Taurodontia, Long philtrum OMIM:166750
Laryngoonychocutaneous Syndrome
Amelogenesis imperfecta OMIM:245660
Florid Cemento-Osseous Dysplasia
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... ORPHA:83451
Split-Hand/Foot Malformation 6
Toe syndactyly, Hand oligodactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot OMIM:225300
Brachydactyly Type B2
Short distal phalanx of toe, Symphalangism affecting the phalanges of the hand, Synostosis of car... ORPHA:140908
Robin Sequence-Oligodactyly Syndrome
Abnormality of the ulna, Micrognathia, Hand oligodactyly, Cleft palate, Glossoptosis, Abnormality... ORPHA:3104
Santos Syndrome
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... OMIM:613005
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Radioulnar synostosis, Finger syndactyly ORPHA:71289
Dentinogenesis Imperfecta
Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, G... ORPHA:49042
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Brachydactyly, Combined B And E Types
Short 5th metacarpal, Short fifth metatarsal, Broad distal phalanx of finger, Short 4th finger, S... OMIM:112440
Coloboma Of Macula With Type B Brachydactyly
Bifid distal phalanx of the thumb, Broad distal phalanx of the thumb, Type B brachydactyly, Absen... OMIM:120400
Brachydactyly, Type A2
Hallux valgus, 2-3 toe syndactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Ap... OMIM:112600
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Broad palm, Rhizomelia, Short foot, Short metacarpal, Mesomelia, Postaxial hand polydactyly, Brac... OMIM:611263
Tooth Agenesis, Selective, X-Linked, 1
Hypodontia, Agenesis of lateral incisor, Oligodontia, Selective tooth agenesis, Agenesis of premo... OMIM:313500
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Triphalangeal thumb, Aplasia/Hypoplasia of metat... OMIM:605289
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Shovel-shaped maxillary central incisors, Increased overbite, Enamel hypoplasia, Dental crowding OMIM:600907
Brachydactyly Type B
Broad hallux phalanx, Symphalangism affecting the phalanges of the hand, 2nd-5th toe middle phala... ORPHA:93383
Polydactyly, Preaxial I
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... OMIM:174400
Polydactyly, Postaxial, Type A6
Postaxial hand polydactyly, Broad phalanges of the 5th finger OMIM:615226
Split-Hand/Foot Malformation 2
Split hand, Finger syndactyly, Short metacarpal, Short phalanx of finger, Split foot OMIM:313350
Anonychia-Microcephaly Syndrome
Carious teeth, Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, Abnorm... ORPHA:1094
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Enamel hypoplasia, Oral mucosal blisters ORPHA:79406
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Metacarpal synostosis, Symp... ORPHA:157801
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Polydactyly, Postaxial, Type A10
Postaxial polydactyly type A, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:618498
Chromosome 2Q31.1 Duplication Syndrome
Cutaneous syndactyly, Talipes equinovarus OMIM:613681
Cooks Syndrome
Triphalangeal thumb, Dystrophic fingernails, Dystrophic toenail, Split hand, Broad thumb, Brachyd... ORPHA:1487
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Multiple Synostoses Syndrome
Cone-shaped epiphysis, Symphalangism affecting the phalanges of the hand, Bilateral single transv... ORPHA:3237
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Broad femoral neck, Small epiphyses, Discolored lateral incisors, Oligodontia, Tapered finger, Me... OMIM:601668
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Hirschsprung Disease With Type D Brachydactyly
Type D brachydactyly, Short thumb OMIM:306980
Coloboma Of Macula-Brachydactyly Type B Syndrome
Broad thumb, Type B brachydactyly, Short distal phalanx of finger, Camptodactyly of finger ORPHA:1471
Brachydactyly Type A7
Broad phalanges of the 2nd toe, Hallux valgus, 2-3 toe syndactyly, Short hallux, Short middle pha... ORPHA:93397
Brachydactyly Type C
Stippling of the epiphysis of the distal phalanx of the thumb, Short middle phalanx of finger, Co... ORPHA:93384
Junctional Epidermolysis Bullosa Inversa
Carious teeth, Enamel hypoplasia, Atrophic scars, Oral mucosal blisters ORPHA:79405
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Brachydactyly-Syndactyly, Zhao Type
Toe syndactyly, Hallux valgus, Short 5th metacarpal, Short fifth metatarsal, Symphalangism affect... ORPHA:93409
Arthrogryposis, Distal, Type 2B2
Metatarsus adductus, Adducted thumb, Talipes equinovarus, Tapered finger, Sandal gap, Hip disloca... OMIM:618435
Genu varum, Malar flattening, Limited elbow extension, Abnormality of pelvic girdle bone morpholo... OMIM:146000
Polydactyly, Postaxial, Type A9
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:618219
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Abnormal mandible co... ORPHA:477781
Acrorenal Syndrome
Hand oligodactyly OMIM:102520
Congenital Arthrogryposis With Anterior Horn Cell Disease
Dystonia, Micrognathia, High palate, Rocker bottom foot, Talipes equinovarus, Facial diplegia, Ha... OMIM:611890
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Proximal symphalangism of hands, Short finger, Humeroradial synostosis, Cubitu... OMIM:186570
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia OMIM:202900
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, 3-4... OMIM:609432
Hypertension And Brachydactyly Syndrome
Short metacarpal, Short phalanx of finger, Cone-shaped epiphysis, Brachydactyly OMIM:112410
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Metaphyseal Chondrodysplasia, Spahr Type
Carious teeth, Short lower limbs, Metaphyseal dysplasia, Genu varum, Abnormality of epiphysis mor... ORPHA:2501
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Syndactyly, 2-4 toe syndactyly OMIM:241000
Split-Hand/Foot Malformation 1
Cleft palate, Hand oligodactyly, Triphalangeal thumb, Clinodactyly, Split hand, Syndactyly, Broad... OMIM:183600
Symphalangism, Distal
Distal symphalangism of hands, Brachydactyly, Absent dorsal skin creases over affected joints, Di... OMIM:185700
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Hallux valgus, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping fingers, Short dis... OMIM:618167
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Microdontia, Oligodontia, Short finger, Supernumerary tooth, Short proximal phalanx of finger, Sh... OMIM:191482
Eiken Syndrome
Abnormal acetabulum morphology, Limited elbow flexion, Thin bony cortex, Narrow pelvis bone, Meta... ORPHA:79106
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly, Finger syndactyly ORPHA:2935
Tricho-Retino-Dento-Digital Syndrome
Short 5th metacarpal, Oligodontia, Supernumerary tooth, Abnormality of the dentition, Brachydacty... ORPHA:1264
Otodental Syndrome
Carious teeth, Pulp calcification, Long philtrum, Odontoma, Abnormal dental enamel morphology, Gi... ORPHA:2791
Asbestos Intoxication
Wheezing, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea, Restrictive ventilatory de... ORPHA:2302
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Epiphyseal Dysplasia, Multiple, 4
Limited elbow flexion, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Talipes eq... OMIM:226900
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Craniosynostosis 3
Hallux valgus, Low anterior hairline, Brachydactyly, Single transverse palmar crease OMIM:615314
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Carious teeth, Micrognathia, Smooth philtrum, Midline notch of upper alveolar ridge, Malar flatte... OMIM:129540
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
2q37 monosomy
Brachydactyly DECIPHER:44
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hypoplastic iliac wing, Mandibular prognathia, Kyphosis, Hip dysplasia, Short distal phalanx of f... ORPHA:1858
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1566
Tetramelic Monodactyly
Foot monodactyly, Hand monodactyly, Split foot, Split hand OMIM:187510
Fryns Macrocephaly
Macrodontia of permanent maxillary central incisor, Short philtrum, Wide mouth, Knee flexion cont... OMIM:600302
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Tricho-Dento-Osseous Syndrome
Widely spaced teeth, Microdontia, Enamel hypomineralization, Agenesis of incisor, Taurodontia, De... ORPHA:3352
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Short thumb, Brachydactyly ORPHA:435804
Tetrasomy X
Hip dysplasia, Premature ovarian insufficiency, Abnormality of the dentition, Clinodactyly of the... ORPHA:9
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Enamel hypoplasia OMIM:616029
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Short 5th finger, Short foot, Postaxial oligodactyly, Aplasia/Hypoplasia of ... ORPHA:52056
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Toe syndactyly, Nail dystrophy, Triphalangeal thumb, Brachydactyly OMIM:124480
Anauxetic Dysplasia 1
Small epiphyses, Hypodontia, Short finger, Rhizomelia, Platyspondyly, Delayed ossification of car... OMIM:607095
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon, Unilateral renal agenesis OMIM:235740
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Abnormality of the ulna, Abnormality of the humerus, Aplasia/Hypoplasia of the radius, Synostosis... ORPHA:1275
Cleft Palate, Isolated
Micrognathia, Cleft palate, Gingival overgrowth, Increased overbite, Anterior open-bite malocclusion OMIM:119540
17Q11.2 Microduplication Syndrome
Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology ORPHA:139474
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Heart-Hand Syndrome Type 3
Abnormality of the metacarpal bones, Short middle phalanx of finger, Brachydactyly, Short toe ORPHA:1342
Peripheral Dysostosis
Clinodactyly of the 5th finger, Brachydactyly, Cone-shaped epiphyses of the phalanges of the hand ORPHA:1795
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Cleft palate, Polydactyly, Stillbirth, Syndactyly, Upper limb phocomelia, Abnorma... ORPHA:294975
Brachydactyly-Distal Symphalangism Syndrome
Chess-pawn distal phalanges, Aplasia of the middle phalanx of the hand, Distal symphalangism of h... OMIM:113450
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones, Abnormal form of the ve... ORPHA:40
Toe syndactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ca... ORPHA:1319
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly, Aplasia/Hypoplasia of toe OMIM:600384
Chromosome 15Q13.3 Deletion Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synophrys OMIM:612001
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... ORPHA:199306
Temtamy Preaxial Brachydactyly Syndrome
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Oligodontia, Hypoplasia of the maxi... ORPHA:363417
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... OMIM:113310
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Micrognathia, Hypoplasia of the zygomatic bone, Supernumerary tooth ORPHA:3145
Stimmler Syndrome
Abnormal dental enamel morphology, Microdontia ORPHA:3199
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal palate morphology, Micrognathia, Mesomelia, Tooth agenesis, Brachydactyly, Abnormal shou... ORPHA:1277
Epidermolysis Bullosa, Junctional, Herlitz Type
Carious teeth, Enamel hypoplasia, Atrophic scars OMIM:226700
Spondylometaphyseal Dysplasia, Type A4
Broad ischia, Metaphyseal widening, Metaphyseal irregularity, Platyspondyly, Ovoid vertebral bodi... OMIM:609052
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis OMIM:256690
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Ureteral atresia, Bilateral renal agenesis, Unilateral renal agenesis OMIM:618845
Jalili Syndrome
Carious teeth, Amelogenesis imperfecta OMIM:217080
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Bullous Dystrophy, Hereditary Macular Type
Short finger, Tapered finger, Alopecia totalis, Acrocyanosis, Death in childhood OMIM:302000
Feingold Syndrome Type 2
Toe syndactyly, Short thumb, Short middle phalanx of finger, Brachydactyly ORPHA:391646
Bardet-Biedl Syndrome 6
Syndactyly, Polydactyly OMIM:605231
Synpolydactyly 2
Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
2-3 toe syndactyly, Long eyelashes, Partial duplication of eyebrows, 2-4 finger syndactyly OMIM:227210
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Thin bony cortex, Generalized bone demineralization, Tibial bowing, Rickets, Fibular ... OMIM:600785
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... ORPHA:2019
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Secondary amenorrhea, Irregular vertebral endplates, Bowing of the legs, Lower limb undergrowth, ... OMIM:612847
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Trichoodontoonychial Dysplasia With Bone Deficiency
Enamel hypoplasia, Anodontia OMIM:275450
Proximal Symphalangism
Tarsal synostosis, Elbow ankylosis, Metacarpophalangeal synostosis, Synostosis of carpal bones, F... ORPHA:3250
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... ORPHA:93101
Brachydactyly, Type E2
Oligodontia, Short metatarsal, Delayed eruption of teeth, Short metacarpal, Brachydactyly OMIM:613382
Isolated Split Hand-Split Foot Malformation
Absent hand, Oligodactyly, Split hand, Finger syndactyly ORPHA:2440
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Oligodactyly, Arachnodactyly, Humeroradial synostosis OMIM:614416
Carious teeth, Micrognathia, Hypodontia, Delayed eruption of permanent teeth, Osteolytic defects ... OMIM:265800
Rhizomelic Dysplasia, Patterson-Lowry Type
Short metatarsal, Rhizomelia, Coxa vara, Short metacarpal, Short humerus, Deformed humeral heads,... OMIM:601438
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short 5th metacarpal, Short finger, Short toe, Clinodactyly of the 5th finger, Brachydactyly OMIM:604381
Orofaciodigital Syndrome Type 10
Accessory oral frenulum, Prominent calcaneus, Short toe, Radial deviation of the hand, Short tibi... ORPHA:2756
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Smooth philtrum, Short finger, Long ph... OMIM:190351
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Cleft palate, High palate, Respiratory insufficiency, Talipes equinovarus, Facial palsy, Respirat... OMIM:614399
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Scarring alopecia of scalp, Atrophic scars, Oral mucosal blisters ORPHA:79402
Congenital finger flexion contractures, Short toe, Syndactyly, Hand polydactyly, Brachydactyly OMIM:114150
Multiple Synostoses Syndrome 3
Metacarpal synostosis, Metatarsal synostosis, Cubitus valgus, Broad hallux, Broad thumb, Cutaneou... OMIM:612961
Emery-Nelson Syndrome
Metacarpophalangeal joint contracture, Abnormal thumb morphology, Camptodactyly of finger, Low po... ORPHA:1927
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Hypodontia, Maxillozygomatic hypoplasia, Malar flattening, Delayed e... ORPHA:2972
Charlie M Syndrome
Micrognathia, Triphalangeal thumb, Short philtrum, Thin vermilion border, Finger syndactyly, Abno... ORPHA:1406
Acrodysplasia Scoliosis
Vertebral segmentation defect, Scoliosis, Brachydactyly, Spina bifida occulta ORPHA:2956
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Micrognathia, Respiratory insufficiency, Neonatal death, Renal cyst, Syndactyly... OMIM:228940
Pyle Disease
Carious teeth, Metaphyseal dysplasia, Hypoplastic frontal sinuses, Metaphyseal widening, Mandibul... OMIM:265900
Multiple Metaphyseal Dysplasia
Abnormality of epiphysis morphology, Aplasia/Hypoplasia of the thumb, Broad distal phalanx of fin... ORPHA:93430
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
2-3 toe syndactyly, Micrognathia, High palate, Hypodontia, Tapered finger, Kyphosis, Thick vermil... OMIM:617061
Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly
Short metatarsal, Nail dystrophy, Split hand, Aplasia/Hypoplasia of the distal phalanges of the h... OMIM:106990
Hirschsprung Disease-Type D Brachydactyly Syndrome
Short phalanx of hallux, Brachydactyly, Short distal phalanx of the thumb ORPHA:2150
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Enamel hypoplasia, Thick vermilion border ORPHA:363523
Summitt Syndrome
Syndactyly OMIM:272350
Genu varum, Metaphyseal irregularity, Abnormal form of the vertebral bodies, Abnormality of femor... ORPHA:750
Acropectorovertebral Dysplasia
Toe syndactyly, Capitate-hamate fusion, Bifid distal phalanx of the thumb, Synostosis of carpal b... OMIM:102510
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand OMIM:619248
Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bowing of the long bones, ... ORPHA:429
Spondyloperipheral Dysplasia
Short metatarsal, Malar flattening, Limited elbow extension, Short toe, Flat acetabular roof, Con... OMIM:271700
Waardenburg Syndrome Type 3
Cutaneous finger syndactyly, Abnormality of the upper limb, White hair, Synostosis of carpal bone... ORPHA:896
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal form of the vertebral bodies, Thin vermilion border, Abnormality of the metaphysis, Brac... ORPHA:2370
Fibular Aplasia-Complex Brachydactyly Syndrome
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... ORPHA:2639
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth OMIM:183300
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea, Clubbing OMIM:219400
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Renal hypoplasia, Abnormality of the ulna, Cleft palate, Microretrognathia, Hi... ORPHA:1307
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness, Syndactyly OMIM:300801
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
Abnormality of the elbow, Synophrys, Finger syndactyly, Thick eyebrow, Clinodactyly of the 5th fi... ORPHA:3268
Weyers Acrofacial Dysostosis
Postaxial foot polydactyly, Short palm, Postaxial hand polydactyly, Clinodactyly of the 5th finge... OMIM:193530
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Type A brachydactyly, Hypoplasia ... OMIM:112910
Heart-Hand Syndrome Type 2
Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elbow, Aplasia/Hypoplasia of th... ORPHA:1350
Trichodental Dysplasia
Hypodontia, Odontodysplasia, Conical tooth OMIM:601453
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Irregular vertebral endplates, Beaking of vertebral bodies, Enlarged meta... OMIM:609616
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture OMIM:203550
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Advanced eruption of teeth, Delayed eruption of teeth, Abnorma... ORPHA:1028
Eng-Strom Syndrome
Brachydactyly, Scoliosis, Camptodactyly of finger ORPHA:1937
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion OMIM:613576
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Radial bowing, Cone-shaped epiphysis, Lun... OMIM:176240
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia, Ab... OMIM:246570
Orofaciodigital Syndrome Xviii
Short middle phalanx of finger, Diastema, Short philtrum, Postaxial polydactyly, Accessory oral f... OMIM:617927
Bardet-Biedl Syndrome 18
Brachydactyly OMIM:615995
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Clinodactyly, Polydactyly, Postaxial polydactyly OMIM:615984
Jawad Syndrome
Hallux valgus, 4-5 toe syndactyly, Short middle phalanx of the 5th finger, Single interphalangeal... OMIM:251255
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Brachydactyly, Type B1
Cutaneous finger syndactyly, Short middle phalanx of finger, Delayed eruption of permanent teeth,... OMIM:113000
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, High palate, Triphalangeal thumb, Short philtrum, Talipes equinovarus, Fibular hypo... OMIM:201170
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short 5th metacarpal, Curved distal phalanx of the thumb, Bifid distal phal... ORPHA:370010
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia OMIM:261560
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... OMIM:608940
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormality of dental morphology, Hypoplasia of teeth, Premature loss of primary teeth ORPHA:248
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Nonspecif... OMIM:610921
Jalili Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta ORPHA:1873
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Cleft palate, Pierre-Robin sequence, Microretrognathia, Short long bone, Tooth age... OMIM:618363
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Highly arched eyebrow, Micrognathia, High palate, Postaxial polydactyly, Preaxial polydactyly, Mi... OMIM:618142
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Proximal placement of hallux, Absent middle phalanx of 2nd finger, Absent middle phalanx of 5th f... OMIM:218530
Smith-Magenis syndrome
Brachydactyly DECIPHER:8
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Sparse eyelashes, Sparse and thin eyebrow, Joint contracture of the hand, Split hand, Syndactyly,... OMIM:225280
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Cleft palate, Diastema, Microdontia, Talon cusp, Short metatarsal, Hitchhiker ... OMIM:605282
Mental Retardation, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Multiple Epiphyseal Dysplasia, Lowry Type
Small epiphyses, Micrognathia, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep... ORPHA:166016
Atkin-Flaitz Syndrome
Abnormality of the dentition, Maxillary lateral incisor microdontia, Everted lower lip vermilion,... ORPHA:1193
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short distal phalanx of finger... ORPHA:1113
Nager Syndrome
Abnormal palate morphology, Micrognathia, Cleft palate, Triphalangeal thumb, Respiratory insuffic... ORPHA:245
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Rhizomelia, Abnormal form of the vertebral bodies, Genu valgum, Deviation ... ORPHA:2831
Chromosome 20Q11-Q12 Deletion Syndrome
Adducted thumb, Tarsal osteovalgus, Camptodactyly, Finger clinodactyly, Brachydactyly OMIM:614257
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metatarsal, Short metacarpal, Brachydactyly OMIM:113400
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Micrognathia, Talipes equinovarus, Hand clenching, Respiratory insufficiency due to muscle weakne... OMIM:618291
Cenani-Lenz Syndrome
Toe syndactyly, Hypodontia, High, narrow palate, Short philtrum, Oligodactyly, Malar flattening, ... ORPHA:3258
Braddock Syndrome
Micrognathia, Neonatal respiratory distress, Pulmonary arterial hypertension, Abnormal hair patte... ORPHA:52047
Metaphyseal Acroscyphodysplasia
Abnormal diaphysis morphology, Genu varum, Abnormality of femur morphology, Cone-shaped epiphysis... ORPHA:1240
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Broad thumb, Short metatarsal, Short metacarpal, Thick eyebrow, Preaxial hand p... ORPHA:1278
Inverted Duplicated Chromosome 15 Syndrome
2-3 toe syndactyly, High palate, Short philtrum, Talipes equinovarus, Drooling, Hyperactivity, Cr... ORPHA:3306
Odontotrichoungual-Digital-Palmar Syndrome
Prominent interdigital folds, Short distal phalanx of toe, Mandibular prognathia, Short 1st metac... OMIM:601957
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Talipes equinovarus, Respiratory insufficiency due to muscle weakness, Joint contracture of the h... OMIM:611067
Feingold Syndrome 2
2-3 toe syndactyly, 3-4 toe syndactyly, Short middle phalanx of the 5th finger, Short thumb, Shor... OMIM:614326
Brachydactyly, Type B2
Tarsal synostosis, Cutaneous finger syndactyly, Proximal symphalangism of hands, Absent phalangea... OMIM:611377
Fatco Syndrome
Tarsal synostosis, Finger syndactyly, Absent hand, Split hand, Abnormality of fibula morphology, ... ORPHA:2492
Genu varum, Bowing of the legs, Rhizomelia, Malar flattening, Flared metaphysis, Limited elbow ex... OMIM:100800
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Mandibular prognathia, Enamel hypoplasia, High palate, Malar flattening OMIM:600991
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Renal dysplasia, Hypoplastic acetabulae... ORPHA:93323
Brachydactyly Type E
Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper limb asymmetry, S... ORPHA:93387
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Hall-Riggs Mental Retardation Syndrome
Thick lower lip vermilion, Hypoplasia of the primary teeth, Metaphyseal dysplasia, Microdontia of... OMIM:234250
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Carious teeth, Increased connective tissue, Enamel hypoplasia, Scarring alopecia of scalp OMIM:226670
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... ORPHA:1856
Odontochondrodysplasia 1
Genu varum, Death in infancy, Delayed eruption of teeth, Recurrent respiratory infections, Short ... OMIM:184260
Craniosynostosis And Dental Anomalies
Hallux valgus, 2-3 toe syndactyly, Supernumerary tooth, Delayed eruption of teeth, Syndactyly, Hy... OMIM:614188
Localized Junctional Epidermolysis Bullosa
Limb joint contracture, Scarring alopecia of scalp, Enamel hypoplasia, Atypical scarring of skin,... ORPHA:251393
Bardet-Biedl Syndrome 4
Polydactyly, Hypogonadism, Syndactyly, Abnormality of the dentition, Brachydactyly OMIM:615982
Acromicric Dysplasia
Thick lower lip vermilion, Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Lo... ORPHA:969
Surfactant Metabolism Dysfunction, Pulmonary, 1
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Tachypnea... OMIM:265120
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth ORPHA:71267
Sjogren-Larsson Syndrome
Enamel hypoplasia OMIM:270200
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the urinary system, Cough, Abnormal peripheral action potential amplitude, Inabili... ORPHA:90117
Angioosteohypotrophic Syndrome
Upper limb undergrowth, Thin bony cortex, Hypoplasia of the radius, Abnormal trabecular bone morp... ORPHA:75508
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Neonatal respiratory distress, Crackles, Elevated bronchoalveolar lavage fluid lymphocy... OMIM:610978
Polydactyly, Postaxial, With Progressive Myopia
Postaxial hand polydactyly OMIM:174310
Short 5th metacarpal, Short metatarsal, Short 5th finger, Short distal phalanx of the thumb, Shor... ORPHA:79445
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Abnormality of pelvic girdle bone morphology, Abnormally shaped carpal bones, ... ORPHA:968
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short metatarsal, Short 4th metacarpal, Type E brachydactyly OMIM:113301
Anauxetic Dysplasia 2
Hypodontia, Metaphyseal dysplasia, Hypoplastic iliac body, Hypoplasia of the femoral head, Macrog... OMIM:617396
Metaphyseal Acroscyphodysplasia
Genu varum, Malar flattening, Short toe, Short humerus, Short phalanx of finger, Cone-shaped epip... OMIM:250215
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Tibial bowing, Increased bone mineral density, Femora... OMIM:166740
Isolated Brachycephaly
Brachydactyly, Metacarpal synostosis ORPHA:35099
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Toe syndactyly, 2-3 toe syndactyly, Short middle phalanx of finger, Short poin... OMIM:263540
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split hand, Split foot DECIPHER:46
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Brachydactyly, Delayed ossification of carpal bones OMIM:618392
Amelocerebrohypohidrotic Syndrome
Abnormality of dental color, Yellow-brown discoloration of the teeth, Abnormal dental enamel morp... ORPHA:1946
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Dental Anomalies And Short Stature
Widely spaced teeth, Microdontia, Oligodontia, Mandibular prognathia, Amelogenesis imperfecta, Hy... OMIM:601216
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the urinary system, Abnormality of the upper urinary tract, Hydrou... ORPHA:2838
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Micrognathia, High palate, Supernumerary tooth, Delayed eruption of teeth, Sandal gap, Finger syn... OMIM:264475
Weyers Ulnar Ray/Oligodactyly Syndrome
Micrognathia, Cleft palate, Proximal radial head dislocation, Hand oligodactyly, High palate, Cle... OMIM:602418
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia OMIM:262020
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome
Clubbing of fingers, Cutaneous finger syndactyly, Swan neck-like deformities of the fingers, Club... ORPHA:329252
Acrootoocular Syndrome
High, narrow palate, Micrognathia, Decreased palmar creases, Short finger, Supernumerary tooth, P... ORPHA:2980
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flared humeral metaphysis, Long coccyx, Short finger, Epi... OMIM:156530
Thymic Aplasia With Fetal Death
Ureteral agenesis, Renal agenesis, Stillbirth OMIM:274210
Radial-Renal Syndrome
Ectopic kidney, Unilateral renal agenesis OMIM:179280
Orofaciodigital Syndrome Type 5
High, narrow palate, Hypodontia, Agenesis of canine, Absent cupid's bow, Cleft soft palate, Abnor... ORPHA:2919
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Widely spaced teeth, Malar flattening, Dental malocclusion OMIM:616108
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle atrophy, Hand muscle weakness, Facial palsy, Abnormal lower motor neuron morphology OMIM:607641
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Short distal phalanx of finger, Brachydactyly ORPHA:2787
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Hypodontia, Delayed eruption of teeth, Amelogenesis imperfecta OMIM:615905
Acrofacial Dysostosis 1, Nager Type
Hallux valgus, Cleft palate, Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of the ... OMIM:154400
Hip Dysplasia, Beukes Type
Abnormality of bone mineral density, Abnormality of epiphysis morphology, Abnormality of the epip... ORPHA:2114
4-5 toe syndactyly OMIM:109050
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Metatarsus adductus, Cleft palate, Flat capital femoral epiphysis, Micrognat... OMIM:601560
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Brachydactyly OMIM:248300
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... OMIM:617805
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Split foot, Split hand OMIM:183700
Acromicric Dysplasia
Thick lower lip vermilion, Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long philtru... OMIM:102370
Rubinstein-Taybi Syndrome 2
Carious teeth, Micrognathia, High palate, Hirsutism, Long eyelashes, Narrow palate, Increased ove... OMIM:613684
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Abnormality of the upper limb, Downturned corners of mouth, Clinodactyly of the 3rd toe, Thin upp... ORPHA:521308
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Fragmented, irregular epiphyses, Limi... OMIM:177170
20Q11.2 Microdeletion Syndrome
Finger clinodactyly, Adducted thumb, Brachydactyly, Camptodactyly ORPHA:444051
Filippi Syndrome
Optic atrophy, Hypodontia, Dystonia, Hypertrichosis, Microdontia, Short philtrum, Thin vermilion ... OMIM:272440
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Hypergonadotropic hypogona... OMIM:609441
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion OMIM:616202
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Polydactyly OMIM:188740
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Genu varum, Epiphyseal stippling, Bowing of the long bones, Coarse metaphyseal trabecularization,... ORPHA:1952
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Interl... ORPHA:79126
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Diastema, Wide mouth, Macroglossia, Gingival ... OMIM:618729
Rhizomelic Syndrome, Urbach Type
Micrognathia, Cleft palate, Triphalangeal thumb, High palate, Abnormality of the elbow, Abnormali... ORPHA:3098
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Hypospadias, Horseshoe kidney, Carious teeth, Smooth philtrum, Dental malocclusion, Velopharyngea... ORPHA:363444
Keipert Syndrome
Broad distal phalanx of finger, Thick upper lip vermilion, Exaggerated cupid's bow, Downturned co... OMIM:301026
Pili Torti
Abnormality of the dentition, Abnormal dental enamel morphology ORPHA:2889
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure, Hand muscle atrophy, Hypoplasia of the capital femoral epiphysis, Tongue fas... OMIM:600561
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short middle phalanx of finger, Fused cervical vertebrae, Thoracic hemivertebrae, Scoliosis, Brac... ORPHA:1436
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Acrodysostosis 1 With Or Without Hormone Resistance
Epiphyseal stippling, Short metatarsal, Delayed eruption of teeth, Elevated circulating thyroid-s... OMIM:101800
Hyperekplexia 4
High palate, Adducted thumb, Talipes equinovarus, Camptodactyly, Respiratory failure, Umbilical h... OMIM:618011
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Mandibular prognathia, Malar flattening, Unilateral cleft lip, Bra... ORPHA:1919
Maxillonasal Dysplasia, Binder Type
Vertebral clefting, Patchy distortion of vertebrae, Short distal phalanx of finger, Dental malocc... OMIM:155050
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Sillence Syndrome
Broad metatarsal, Metatarsus adductus, Short middle phalanx of finger, Large tarsal bones, Chess-... ORPHA:3168
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Tooth agenesis OMIM:150400
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Cone-shaped epiphysis, Mandibular prognathia, Malar flattening, Abnormality of finger, Abnormalit... ORPHA:2511
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Clinodactyly, Brachydactyly OMIM:610023
Cardiospondylocarpofacial Syndrome
High, narrow palate, Failure of eruption of permanent teeth, Tooth malposition, Abnormal form of ... ORPHA:3238
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Short fo... OMIM:135750
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Orofaciodigital Syndrome Iii
Microdontia, Tongue nodules, Supernumerary tooth, Bifid uvula, Short sternum, Bifid tongue, Posta... OMIM:258850
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,... OMIM:183849
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Limited elbow flexion, Abnormal respiratory system physiology, Respiratory insufficiency, Reduced... ORPHA:266
Ameloonychohypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Marked delay in eruption of permanent teeth, Hypocalcifi... OMIM:104570
Clark-Baraitser syndrome
Thick lower lip vermilion, Broad palm, Exaggerated median tongue furrow, Tapered finger, Maxillar... OMIM:300602
Pallister-Hall Syndrome
Cleft palate, Renal dysplasia, Neonatal death, Microglossia, Decreased response to growth hormone... OMIM:146510
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Brachydactyly ORPHA:3303
Robinow Syndrome, Autosomal Dominant 2
Micrognathia, Dental malocclusion, Dental crowding, Long philtrum, Cleft soft palate, Kyphoscolio... OMIM:616331
Multiple Epiphyseal Dysplasia, Beighton Type
Flattened femoral head, Abnormal acetabulum morphology, Reduced proximal interphalangeal joint sp... ORPHA:166011
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Multiple Synostoses Syndrome 2
Tarsal synostosis, Talipes equinovarus, Finger symphalangism, Carpal synostosis, Brachydactyly, H... OMIM:610017
Microcephaly-Micromelia Syndrome
Abnormality of the hand, Micrognathia, Cleft palate, Talipes equinovarus, Absent radius, Narrow m... OMIM:251230
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal ilium morphology, Cervical platyspondyly, Short middle phalanx of finger, Genu varum, Sh... ORPHA:93314
Takenouchi-Kosaki Syndrome
Hypospadias, Smooth philtrum, Proximal placement of thumb, Thin upper lip vermilion, Unilateral r... OMIM:616737
Microcephalic Primordial Dwarfism, Toriello Type
Downturned corners of mouth, Enamel hypoplasia ORPHA:2643
48,Xyyy Syndrome
Thick lower lip vermilion, High palate, Long philtrum, Irregularly spaced teeth, Enamel hypoplasia ORPHA:99329
Brachydactyly, Type E1
Short clavicles, Short metatarsal, Short metacarpal, Brachydactyly, Multiple impacted teeth, Type... OMIM:113300
Carpenter Syndrome
Toe syndactyly, Polydactyly, Talipes equinovarus, Finger syndactyly, Genu valgum, Brachydactyly, ... ORPHA:65759
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Ulnar deviation of finger, Furrowed tongue, Camptodactyly of finger, Premature ovarian insufficie... ORPHA:2928
Lichtenstein Syndrome
Carious teeth, Enamel hypoplasia, Downturned corners of mouth OMIM:246550
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Neonatal death, Apnea, Split hand, Ataxia, Respiratory failure OMIM:610127
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Renal agenesis, Unilateral renal agenesis OMIM:601076
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Short middle phalanx of finger, Abnormality of epiphysis morphology, Delayed eruption... ORPHA:63442
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Clinodactyly of the 5th finger, Short digit, Abnormal hand morphology, Short 5th metacarpal ORPHA:228190
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Highly arched eyebrow, Broad palm, Smooth philtrum, Hypodontia, Elevated circulating follicle sti... OMIM:618419
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
High anterior hairline, Sparse lateral eyebrow, Brachydactyly OMIM:618879
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal dappling, Cleft palate, Metaphyseal irregularity, Platyspondyly, Genu valgum, Coxa va... OMIM:184250
Desbuquois Dysplasia 1
Monkey wrench femoral neck, Genu varum, Smooth philtrum, Talipes equinovarus, Short metatarsal, M... OMIM:251450
Trichorhinophalangeal Syndrome Type 1 And 3
Micrognathia, Shortening of all phalanges of fingers, High palate, Cone-shaped epiphysis, Long up... ORPHA:77258
Arthrogryposis Multiplex Congenita 6
Hypospadias, Death in infancy, Adducted thumb, Neonatal death, Death in childhood, Akinesia, Resp... OMIM:619334
Short Stature-Obesity Syndrome
Micrognathia, Limb undergrowth, Clinodactyly of the 5th finger, Micromelia, Brachydactyly OMIM:269870
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metatarsal, Hitchhiker thumb, Short metacarpal, Short thumb, Short distal phalanx of finger... OMIM:112450
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... ORPHA:93320
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Unilateral renal agenesis, Bladder exstrophy, Hydroureter, Epispadias OMIM:600057
Cleidocranial Dysplasia
Sinusitis, Carious teeth, Cleft palate, Abnormal dental enamel morphology, Delayed eruption of te... ORPHA:1452
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Cleft palate, Abnormal metacarpal morphology, Abnormal lung lobation, Abnormality of epiphysis mo... ORPHA:2631
Multiple Synostoses Syndrome 4
Tarsal synostosis, Brachydactyly, Overlapping toe OMIM:617898
Bardet-Biedl Syndrome 19
Polydactyly OMIM:615996
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Short femur, Epiphyseal stippling OMIM:600121
Multiple Epiphyseal Dysplasia Type 4
Flattened radial epiphyses, Upper limb undergrowth, Cleft palate, Talipes equinovarus, Short meta... ORPHA:93307
Cranioectodermal Dysplasia
Hypodontia, Microdontia, Rhizomelia, Abnormal dental enamel morphology, Abnormality of the metaph... ORPHA:1515
Camptodactyly Syndrome, Guadalajara, Type Ii
Hallux valgus, Short 5th toe, Short middle phalanx of finger, Short 2nd toe, Micrognathia, Talipe... OMIM:211920
Nance-Horan Syndrome
Mandibular prognathia, Abnormality of the dentition, Supernumerary tooth ORPHA:627
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Genu valgum, Narrow mouth, Coxa valga, Short phalanx of finger, Brachydactyly OMIM:132450
Nance-Horan Syndrome
Mulberry molar, Supernumerary maxillary incisor, Diastema, Screwdriver-shaped incisors OMIM:302350
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... OMIM:143400
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Widely spaced teeth, Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sa... OMIM:617102
Pseudohypoaldosteronism Type 2
Abnormality of the dentition, Abnormal dental enamel morphology ORPHA:757
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Cleft palate, Radial cl... ORPHA:93322
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Facial palsy, Loss of ability to walk, Hip dislocation, Micropenis, Ab... ORPHA:370968
Intellectual Disability, Birk-Barel Type
Contractures involving the joints of the feet, High, narrow palate, Micrognathia, Short philtrum,... ORPHA:166108
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... OMIM:615294
Terminal Osseous Dysplasia
Cleft palate, Mesomelic leg shortening, Abnormal hand bone ossification, Mesomelic arm shortening... OMIM:300244
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/hypoplasia of the humerus, Abnormality of femur morphology, Abnormality of the upper limb... ORPHA:2141
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Toe syndactyly, Broad thumb, Finger syndactyly, Postaxial foot polydactyly,... ORPHA:380
Chst3-Related Skeletal Dysplasia
Irregular epiphyses, Small epiphyses, Abnormality of the elbow, Long philtrum, Rhizomelia, Cubitu... ORPHA:263463
Atkin-Flaitz Syndrome
Thick lower lip vermilion, Broad palm, Exaggerated median tongue furrow, Tapered finger, Maxillar... OMIM:300431
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Death in infancy, Postaxial polydactyly, Proximal tubulopathy, Enamel hypoplasia, ... OMIM:614576
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Carious teeth, Abnormal palate morphology, Malar flattening, Down-sloping shoulders, Retrognathia... ORPHA:1390
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Short finger, Tapered finger, Respiratory failure, Hyperextensibility ... OMIM:313420
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Metaphyseal irregul... OMIM:600081
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Interphalangeal joint contracture of finger, Premature loss of teeth, Supernumerar... ORPHA:69087
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Cleft palate, Genu valgum, Short foot, Short metacarpal, Narrow mouth, Short toe, B... OMIM:614078
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Small epiphyses, Irregular vertebral endplates, Avascular necrosis of the ca... OMIM:132400
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bilateral facial palsy, Proximal upper limb muscle hypertrophy, Bronchiolitis, Loss of ability to... ORPHA:254361
Catifa Syndrome
Gait disturbance, Cleft palate, Long philtrum, Tooth malposition, Delayed eruption of teeth, Clef... OMIM:618761
Short-Rib Thoracic Dysplasia 12
Hypoplastic nipples, Hamartoma of tongue, Neonatal death, Short toe, Short long bone, Broad palm,... OMIM:269860
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Preaxial hand polydactyly, Pulmonary arterial hypertension, Abnormal hair morphology, Unilateral ... OMIM:608406
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... OMIM:186500
Pfeiffer Syndrome
High palate, Short philtrum, Mandibular prognathia, Symphalangism affecting the phalanges of the ... ORPHA:710
Microcephalic Primordial Dwarfism, Toriello Type
Micrognathia, Enamel hypoplasia OMIM:251190
Ectodermal Dysplasia-Syndactyly Syndrome 1
Widely spaced teeth, Enamel hypoplasia, Conical tooth OMIM:613573