Gene Summary

twist basic helix-loop-helix transcription factor 1
pdt,  charlie chaplin,  Skam10Jus bHLHa38,  M-Twist,  Pluridigite,  Ska10

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased lean body mass Twist1em1(IMPC)Rbrc HET Early adult 8.73×10-07
abnormal pelvic girdle bone morphology Twist1em1(IMPC)Rbrc HET Early adult 4.67×10-06
decreased total body fat amount Twist1em1(IMPC)Rbrc HET Early adult 1.39×10-05
abnormal vertebrae morphology Twist1em1(IMPC)Rbrc HET   Early adult 8.79×10-05
abnormal autopod morphology Twist1em1(IMPC)Rbrc HET Early adult 3.54×10-15
abnormal brain morphology Twist1em1(IMPC)Rbrc HET Early adult 0.00
abnormal nail morphology Twist1em1(IMPC)Rbrc HET   Early adult 3.54×10-15
abnormal zygomatic bone morphology Twist1em1(IMPC)Rbrc HET Early adult 6.97×10-11
abnormal cranium morphology Twist1em1(IMPC)Rbrc HET Early adult 4.18×10-10
abnormal vertebral arch morphology Twist1em1(IMPC)Rbrc HET Early adult 2.39×10-06
increased grip strength Twist1em1(IMPC)Rbrc HET Early adult 4.53×10-05
abnormal digit morphology Twist1em1(IMPC)Rbrc HET   Early adult 1.23×10-21

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lacZ Expression

Expression data not available

Associated Images

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


XRay Images Hind Leg and Hip

10 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection


21 Images

Combined SHIRPA and Dysmorphology


9 Images


XRay Images Skull Dorso Ventral Orientation

2 Images

Human diseases caused by Twist1 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 Twist1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Craniosynostosis 5, Susceptibility To
Craniosynostosis OMIM:615529
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Craniosynostosis, Philadelphia Type
Craniosynostosis, Finger syndactyly ORPHA:1527
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormal finger morphology OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Chromosome 2Q35 Duplication Syndrome
Sagittal craniosynostosis, 2-3 toe syndactyly, Distal symphalangism of hands, 3-4 finger syndacty... OMIM:185900
Summitt Syndrome
Syndactyly, Oxycephaly, Craniosynostosis OMIM:272350
Craniosynostosis 7
Craniosynostosis OMIM:617439
Craniosynostosis, Adelaide Type
Carpal bone malsegmentation, Hallux valgus, Shortening of all distal phalanges of the fingers, Co... OMIM:600593
Craniosynostosis, 4-5 toe syndactyly OMIM:109050
Syndactyly Type 2
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... ORPHA:93403
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Polydactyly, Postaxial, Type A9
Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:618219
Polydactyly, Postaxial, Type A10
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly OMIM:618498
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Polydactyly, Preaxial I
Radial deviation of thumb terminal phalanx, Preaxial hand polydactyly, Partial duplication of thu... OMIM:174400
Syndactyly, Type Iv
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... OMIM:186200
Symphalangism, Distal
Distal foot symphalangism, Absent dorsal skin creases over affected joints, Distal symphalangism ... OMIM:185700
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly OMIM:174200
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... OMIM:174700
Polydactyly, Preaxial Ii
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... OMIM:174500
Cleft palate OMIM:119550
Craniosynostosis 3
Left unicoronal synostosis, Sagittal craniosynostosis, Hallux valgus, Brachydactyly, Single trans... OMIM:615314
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus OMIM:234280
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis OMIM:123155
Cloverleaf skull, Elbow ankylosis, Craniosynostosis OMIM:148800
Synpolydactyly 1
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... OMIM:186000
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Humeroradial synostosis, Oligodactyly, Arachnodactyly, Craniosynostosis OMIM:614416
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly, Pierre-Robin sequence, Cleft palate OMIM:172880
Craniosynostosis With Fibular Aplasia
Single transverse palmar crease, Craniosynostosis, Fibular aplasia OMIM:218550
Jackson-Weiss Syndrome
Broad first metatarsal, 2-3 toe syndactyly, Broad distal phalanx of the hallux, Short first metat... OMIM:123150
Osseous Heteroplasia, Progressive
Ectopic ossification in muscle tissue, Limb undergrowth, Ankylosis OMIM:166350
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1566
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... ORPHA:3269
Craniosynostosis 1
Oxycephaly, Sagittal craniosynostosis, Scaphocephaly, Turricephaly, Biparietal narrowing, Dolicho... OMIM:123100
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly OMIM:263450
Non-Syndromic Sagittal Craniosynostosis
Dolichocephaly, Prominent occiput, Frontal bossing ORPHA:35093
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Tapered finger, Pierre-Robin sequence, Clinod... OMIM:311895
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly, Preaxial hand polydactyly OMIM:601759
Holoprosencephaly, Semilobar, With Craniosynostosis
Coronal craniosynostosis, Coxa valga, Lambdoidal craniosynostosis, Short distal phalanx of finger OMIM:601370
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Brachydactyly, Type C
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... OMIM:113100
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Frontal ... ORPHA:380
Hunter-Mcalpine Craniosynostosis Syndrome
Craniosynostosis OMIM:601379
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Craniosynostosis ORPHA:2866
Craniosynostosis-Mental Retardation-Clefting Syndrome
Forearm undergrowth, Craniosynostosis, Lower limb undergrowth OMIM:218650
Santos Syndrome
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... OMIM:613005
Syndactyly-Polydactyly-Earlobe Syndrome
Preaxial hand polydactyly, Preaxial foot polydactyly, Bifid distal phalanx of toe, Broad toe, 1-2... OMIM:186350
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Short metacarpal, Narrow chest, Mesomelia, Brachydactyly, Postaxial hand polydactyly,... OMIM:611263
Scalp Defects And Postaxial Polydactyly
Postaxial polydactyly type A OMIM:181250
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Multiple Synostoses Syndrome 3
Humeroradial synostosis, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hallux, Metac... OMIM:612961
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Brachycephaly, Increased bone mineral density, Craniosynostosis, Thickened calvaria ORPHA:178377
Summitt Syndrome
Camptodactyly of finger, Genu valgum, Plagiocephaly, Finger syndactyly, Short 4th metacarpal, Cli... ORPHA:3210
Carpenter Syndrome
Oxycephaly, Genu valgum, Polydactyly, Turricephaly, Finger syndactyly, Toe syndactyly, Preaxial f... ORPHA:65759
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... ORPHA:1892
Polydactyly, Postaxial, Type A7
Postaxial hand polydactyly, 2-3 toe cutaneous syndactyly, Short fifth metatarsal, Postaxial foot ... OMIM:617642
Syndactyly, Type Iii
4-5 finger syndactyly, Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger OMIM:186100
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Potocki-Shaffer syndrome
Delayed cranial suture closure, Parietal foramina DECIPHER:34
Postaxial hand polydactyly, Split foot, Split hand OMIM:225290
Acropectoral Syndrome
Triphalangeal thumb, Preaxial polydactyly, Partial duplication of thumb phalanx OMIM:605967
Greig Cephalopolysyndactyly Syndrome
Delayed cranial suture closure, Scaphocephaly, Preaxial hand polydactyly, Joint contracture of th... OMIM:175700
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal thorax morphology, Upper limb phocomelia, Syndactyly, Stillbirth, Abnormal ... ORPHA:294975
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Orbital craniosynostosis, Dolichocephaly, Frontal bossing ORPHA:1538
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Postaxial hand polydactyly, Short thumb, Short 2nd toe, Brachydactyly OMIM:176305
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Horizontal ribs, Short ribs, Narrow chest, Death in infancy, Postaxial foot polydactyly, Lateral ... OMIM:617405
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Craniosynostosis 2
Brachycephaly, Triphalangeal thumb, Turricephaly, Frontal bossing, Brachydactyly, Unicoronal syno... OMIM:604757
Synpolydactyly 2
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... OMIM:608180
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis OMIM:241520
Kyphomelic Dysplasia
Short thorax, Anterior rib cupping, Micrognathia, Flat acetabular roof, Missing ribs, Limitation ... ORPHA:1801
Sprengel Deformity
Cleft palate, Shoulder muscle hypoplasia, Abnormality of the shoulder girdle musculature, Abnorma... ORPHA:3181
Prognathism, Mandibular
Craniosynostosis OMIM:176700
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... OMIM:183600
Robin Sequence-Oligodactyly Syndrome
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, Abnormal morph... ORPHA:3104
Disorganization, Mouse, Homolog Of
Limb duplication, Cleft upper lip, Hand polydactyly, Hip dislocation, Cleft palate OMIM:223200
Trochlea Of The Humerus, Aplasia Of
Cleft palate, Short humerus OMIM:191000
Polydactyly, Postaxial, With Progressive Myopia
Postaxial hand polydactyly OMIM:174310
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Micrognathia, Generalized osteosclerosis, Limb undergro... ORPHA:1423
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Chondrocalcinosis Due To Apatite Crystal Deposition
Costochondral pain, Costal cartilage calcification, Osteoarthritis of the small joints of the hand OMIM:118610
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Split foot, Split hand, 4-5 toe syndactyly, Mesoaxial hand polydactyly OMIM:616890
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Met... ORPHA:174
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Absent dorsal skin creases over affected joints, Patellar dislocation, Short thumb, Triangular sh... OMIM:618167
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... ORPHA:1350
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal carpal morphology, Coxa vara, Sho... ORPHA:93351
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... ORPHA:750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Holzgreve Syndrome
Cleft palate, Cleft upper lip, Hand polydactyly OMIM:236110
Spondylometaphyseal Dysplasia, A4 Type
Flared, irregular rib ends, Coxa vara, Limitation of joint mobility, Micromelia, Short palm ORPHA:168555
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Cleft palate, Split foot, Split hand OMIM:183700
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Cutaneous finger syndactyly, Toe syndactyly, Median cleft lip, Split foot, Sp... DECIPHER:46
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal irregularity, Osteoporotic tarsals, Sclerotic humeral metaphysis, Coxa valga, Metaphy... OMIM:609052
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Trigonocephaly With Short Stature And Developmental Delay
Sagittal craniosynostosis, Clinodactyly of the 5th finger, Premature posterior fontanelle closure... OMIM:314320
Hypophosphatasia, Childhood
Craniosynostosis, Dolichocephaly, Bowing of the legs, Frontal bossing OMIM:241510
16P13.11 Microduplication Syndrome
Hand polydactyly, Dolichocephaly, Joint hyperflexibility, Arachnodactyly, Craniosynostosis ORPHA:261243
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis ORPHA:88643
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Genu valgum, Patellar dislocation, Capitate-hamate fusion, Short foot, Coronal cranios... OMIM:614078
Metaphyseal Acroscyphodysplasia
Short phalanx of finger, Genu varum, Short toe, Metaphyseal cupping, Coxa valga, Short metacarpal... OMIM:250215
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication OMIM:188740
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Midface retrusion, Craniosynostosis OMIM:612247
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Finger syndactyly, Clinodactyly of the 5th finger, Radioulnar synostosi... ORPHA:3268
Muenke Syndrome
Brachycephaly, Short middle phalanx of toe, Plagiocephaly, Capitate-hamate fusion, Coronal cranio... OMIM:602849
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft lip, Tooth agenesis, Cleft palate ORPHA:1074
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Greenberg Dysplasia
Abnormal bone ossification, Rhizomelia, Abnormally ossified vertebrae, Micrognathia, Abnormal pel... ORPHA:1426
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Mesoaxial foot polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Aplasia/Hypoplasia of the pha... ORPHA:488232
Jeune Syndrome
Abnormal sternum morphology, Short thorax, Toe syndactyly, Narrow chest, Micromelia, Abnormal pel... ORPHA:474
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Frontal bossing, Joint hyperflexibility, Brachydactyly, Short distal phalanx of finger, Osteoporo... ORPHA:2787
Lowry-Maclean Syndrome
Craniosynostosis OMIM:600252
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, S... OMIM:118651
Boomerang Dysplasia
Aplasia/Hypoplasia of the fibula, Abnormal bone ossification, Finger syndactyly, Narrow chest, Ab... ORPHA:1263
Jawad Syndrome
Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... OMIM:251255
Orofaciodigital Syndrome Xviii
Genu valgum, Short philtrum, Diastema, Accessory oral frenulum, Single transverse palmar crease, ... OMIM:617927
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Metopic suture patent to nasal root, Premature posterior fontanelle closure, Small anterior fonta... ORPHA:3369
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Long thorax, Mesomelia, Brachydactyly, Abnormal shoulder morphology ORPHA:1277
Thoracomelic Dysplasia
Bell-shaped thorax, Genu valgum, Short ribs, Elbow dislocation, Abnormal pelvic girdle bone morph... ORPHA:1803
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Abnormal pelvic girdle bone morphology, White forelock, Ost... ORPHA:2779
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Short metacarpal, Short long bone, Metaphyseal striations, ... OMIM:250460
Cranioectodermal Dysplasia
Finger syndactyly, Dolichocephaly, Prominent occiput, Clinodactyly of the 5th finger, Frontal bos... ORPHA:1515
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Pectus excavatum, ... OMIM:607778
Robinow-Sorauf Syndrome
Plagiocephaly, Hallux valgus, Pansynostosis, Broad hallux, Broad thumb, Duplication of the distal... OMIM:180750
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip, Absent radius OMIM:179400
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Narrow chest, Halberd-shaped pelvis, C... ORPHA:2635
Endosteal Hyperostosis, Worth Type
Abnormal cortical bone morphology, Craniofacial hyperostosis, Generalized osteosclerosis, Clavicu... ORPHA:2790
Spondyloepiphyseal Dysplasia, Kimberley Type
Abnormal epiphysis morphology, Short thorax, Osteoarthritis, Micromelia ORPHA:93283
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Short ribs, Narrow chest, Micrognathia, Generalized osteos... OMIM:215045
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the legs, Bowing of th... OMIM:249710
Metatropic Dysplasia
Flexion contracture, Flared iliac wing, Long coccyx, Narrow greater sciatic notch, Arthrogryposis... OMIM:156530
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Polydactyly, Clinodactyly, Narrow mouth, Postaxial polydactyly OMIM:615984
Craniosynostosis 6
Brachycephaly, Delayed cranial suture closure, Parietal foramina, Plagiocephaly, Turricephaly, Ri... OMIM:616602
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Genu varum, Genu valgum, Coxa vara, Abnormality of the epiphyses of the feet, Ulnar deviated club... ORPHA:166002
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Scaphocephaly, Joint contracture of the hand, Arthropathy, Hip dislocation, Clubbing, Craniosynos... OMIM:618523
Pfeiffer Syndrome Type 1
Brachycephaly, Aplasia/Hypoplasia of the thumb, Short foot, Finger syndactyly, Toe syndactyly, Mi... ORPHA:93258
Curry-Jones Syndrome
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Foot polydactyly, Broad thumb, Abno... ORPHA:1553
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of ... ORPHA:1836
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Broad femoral neck, Genu valgum, Flat distal femoral epiphysis, Short femoral neck, Coxa vara, Ep... OMIM:609324
Eiken Syndrome
Short phalanx of finger, Short toe, Metaphyseal irregularity, Thin bony cortex, Abnormal bone oss... ORPHA:79106
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Partial-complete absence of 5th phalanges... OMIM:176240
Postaxial Tetramelic Oligodactyly
Ectrodactyly, Abnormal metacarpal morphology, Abnormal finger morphology, Oligodactyly ORPHA:2730
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Thoracic hypoplasia, Pectus excavatum, Bowing of the legs, Limb undergrowth, Limited elbow extension ORPHA:156728
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Radioulnar dislocatio... ORPHA:2741
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate OMIM:119300
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... OMIM:200700
Cleft Palate, Isolated
Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion OMIM:119540
Acrocapitofemoral Dysplasia
Genu varum, Short thorax, Coxa vara, Flared iliac wing, Cone-shaped metacarpal epiphyses, Pectus ... ORPHA:63446
Fibular Aplasia-Complex Brachydactyly Syndrome
Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ... ORPHA:2639
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Preaxial foot polydactyly, Postaxial hand polydactyly ORPHA:2091
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Hypoplastic pubic bone, Thoracic hypoplasia, Short long... OMIM:608728
Acropectorovertebral Dysplasia
Triphalangeal thumb, Camptodactyly of finger, Finger syndactyly, Synostosis of carpal bones, Broa... ORPHA:957
Metaphyseal Anadysplasia 2
Genu varum, Metaphyseal irregularity, Short femoral neck, Bowing of the legs, Micromelia, Metaphy... OMIM:613073
Triphalangeal Thumbs With Brachyectrodactyly
Triphalangeal thumb, Short 3rd toe, Split foot, Split hand, Brachydactyly, Short 2nd finger OMIM:190680
Acromesomelic Dysplasia, Grebe Type
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... ORPHA:2098
Craniofrontonasal Dysplasia
Brachycephaly, Camptodactyly of finger, Plagiocephaly, Finger syndactyly, Hand polydactyly, Clino... ORPHA:1520
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Postaxial hand polydactyly, Preaxial foot polydactyly, Bilateral triphalangeal thumbs OMIM:138790
Adducted Thumbs Syndrome
Craniosynostosis, Arthrogryposis multiplex congenita OMIM:201550
Pierre Robin Syndrome
Cleft palate, Pierre-Robin sequence, Glossoptosis OMIM:261800
Arthrogryposis, Distal, Type 1C
Camptodactyly of finger, Wrist flexion contracture, Hip contracture, High palate, Elbow flexion c... OMIM:619110
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Absent o... OMIM:601376
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Slender long bone, Brachydactyly, Decreased calvarial ossification, Trigonocephaly... OMIM:618265
Cleft Palate-Lateral Synechia Syndrome
Everted lower lip vermilion, Cleft palate, Oral synechia, Narrow mouth ORPHA:2016
Fibular Hemimelia
Hip subluxation, Short tibia, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... ORPHA:93323
Langer Mesomelic Dysplasia
Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic limb shortening, Short femoral neck, Abnor... ORPHA:2632
Congenital Disorder Of Glycosylation, Type Iin
Craniosynostosis, Osteopenia, Joint hypermobility OMIM:616721
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Dumbbell-shaped long bone, Thoracic hypoplasia, Limb undergrowth, Metaphyseal irregularity, Short... OMIM:151210
Femur-Fibula-Ulna Complex
Abnormality of the elbow, Finger syndactyly, Humeroradial synostosis, Abnormal morphology of ulna... ORPHA:2019
Hip Dysplasia, Beukes Type
Broad femoral neck, Abnormal bone ossification, Abnormality of the epiphysis of the femoral head,... ORPHA:2114
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short long bone, Short ribs, Coarse metaphyseal trabecularization, Limb undergrowth, Brachydactyl... OMIM:618961
Cutis Laxa, Autosomal Recessive, Type Iie
Genu varum, Hip dislocation, Joint laxity, Clinodactyly of the 5th finger, Copper beaten skull, S... OMIM:619451
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short toe, Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology OMIM:259270
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, High palate, Median cleft lip, Syndactyly, Cleft palate OMIM:300484
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the... OMIM:605289
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Hypoplastic pubic bone, Short foot, Enlarged metacarpal epiphyses, Short ... OMIM:609616
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Decreased finger mobil... OMIM:112910
Schneckenbecken Dysplasia
Metaphyseal irregularity, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Thora... OMIM:269250
Craniosynostosis, Herrmann-Opitz Type
Brachycephaly, Finger syndactyly, Turricephaly, Split hand, Brachydactyly, Craniosynostosis ORPHA:2145
Craniosynostosis 4
Sagittal craniosynostosis, Pansynostosis, Coronal craniosynostosis, Midface retrusion, Bicoronal ... OMIM:600775
Orofaciodigital Syndrome Iv
Short tibia, Lobulated tongue, High palate, Tongue nodules, Toe syndactyly, Foot polydactyly, Sho... OMIM:258860
Spondyloepimetaphyseal Dysplasia, Irapa Type
Broad femoral neck, Genu valgum, Upper limb undergrowth, Enlargement of the costochondral junctio... OMIM:271650
Cleft Lip With Or Without Cleft Palate
Non-midline cleft lip, Submucous cleft of soft and hard palate, Median cleft lip and palate, Medi... ORPHA:1991
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis ORPHA:718
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Death in infancy, Narrow chest, Abnormal metaphysis morphol... ORPHA:1354
Achondrogenesis Type 2
Abnormal bone ossification, Hypoplastic ilia, Short ribs, Short long bone, Narrow chest, Delayed ... ORPHA:93296
Muenke Syndrome
Brachycephaly, Plagiocephaly, Short foot, Coronal craniosynostosis, Carpal synostosis, Tarsal syn... ORPHA:53271
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Craniosynostosis, Dolichocephaly, Clinodactyly of the 5th finger, Frontal bossing ORPHA:1516
Orofaciodigital Syndrome Xi
Cleft palate, Postaxial polydactyly OMIM:612913
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Limb undergrowth, Abnormal cortical bone morphology, Abnormality ... ORPHA:2204
Axial Spondylometaphyseal Dysplasia
Thoracic hypoplasia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Narrow greater ... ORPHA:168549
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Brachycephaly, Delayed closure of the anterior fontanelle, Flat occiput, Bicoronal synostosis, La... OMIM:618736
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Craniofacial hyperostosis, Diaphyseal thickening ORPHA:1513
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:609813
Brachydactyly-Syndactyly Syndrome
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... OMIM:610713
Odontochondrodysplasia 1
Short phalanx of finger, Genu varum, Metaphyseal cupping, Short metacarpal, Short long bone, Deat... OMIM:184260
2q33.1 deletion syndrome
Cleft palate, High palate DECIPHER:51
Gordon Syndrome
Camptodactyly of finger, High palate, Finger syndactyly, Clinodactyly of the 5th finger, Cleft pa... ORPHA:376
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Craniosynostosis, Split hand ORPHA:2117
Recurrent fractures, Large fontanelles, Abnormal metaphysis morphology, Craniosynostosis, Bowing ... ORPHA:436
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Craniosynostosis, Joint hypermobility OMIM:618906
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Bell-shaped thorax, Short long bone, Thoracic dysplasia, Lateral clavicle hook, ... OMIM:615633
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hypoplastic iliac wing, 11 pairs of ribs, Metaphyseal cupping, Rhizomelia, Distal shortening of l... OMIM:300863
Atelosteogenesis, Type Ii
Thoracic hypoplasia, Death in infancy, Bifid humerus, Micrognathia, Talipes equinovarus, Flat ace... OMIM:256050
Cleft Palate With Or Without Ankyloglossia, X-Linked
Cleft palate, Ankyloglossia, Bifid uvula OMIM:303400
Coxoauricular Syndrome
Hip dislocation, Abnormal pelvic girdle bone morphology, Micromelia, Abnormality of femur morphol... ORPHA:1508
Short toe, Genu varum, Abnormality of the elbow, Micromelia, Abnormal pelvic girdle bone morpholo... ORPHA:429
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Pterygium, Frontal bossing, Elbow dislocation, Hypoplastic dis... ORPHA:93329
Achondrogenesis, Type Ia
Unossified vertebral bodies, Abnormal hand bone ossification, Talipes equinovarus, Beaded ribs, H... OMIM:200600
Aase-Smith Syndrome
Camptodactyly of finger, Multiple joint contractures, Aplasia/Hypoplasia of the radius, Scoliosis... ORPHA:916
Diastrophic Dysplasia
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Hip dysplasia, Increa... ORPHA:628
Acropectorovertebral Dysplasia
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... OMIM:102510
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Bell-shaped thorax, Thoracic hypoplasia, Recurrent fractures, Abnormal pelvi... OMIM:166210
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate OMIM:137215
Ulnar Hypoplasia
Hypoplasia of the radius, Radial bowing, Hypoplasia of the ulna, Distal ulnar hypoplasia, Radial ... OMIM:191440
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Ulnar deviation of the wrist, Clinodactyly, Midface retrusion, Unil... OMIM:618577
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Brachycephaly, Craniosynostosis, Frontal bossing ORPHA:314575
Split-Hand/Foot Malformation 6
Finger syndactyly, Foot oligodactyly, Toe syndactyly, Hand oligodactyly, Split foot, Split hand OMIM:225300
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Narrow chest, Micrognathia, Abnormal clavicle morphology, Proximal placement of thumb... ORPHA:93267
Ophthalmomandibulomelic Dysplasia
Radioulnar dislocation, Coxa valga, Radial bowing, Ulnar deviated club hands, Lateral humeral con... OMIM:164900
Enlarged Parietal Foramina
Short clavicles, Parietal foramina, Broad thumb, Craniosynostosis ORPHA:60015
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Knee flexion contracture, 2-3 toe syndactyly, Hip contracture, Death in infancy, Toe syndactyly, ... OMIM:616809
Mesomelic Dysplasia, Savarirayan Type
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Elbow disl... ORPHA:85170
Thanatophoric Dysplasia, Type Ii
Metaphyseal irregularity, Hypoplastic ilia, Short ribs, Flared metaphysis, Wide-cupped costochond... OMIM:187601
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cleft palate, Short foot, Abnormal hand morphology, Small hand OMIM:300261
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Hypoplastic ilia, Short ribs, Stillbirth, Micromel... OMIM:600972
Bent Bone Dysplasia Syndrome 1
Hypoplastic pubic bone, Coronal craniosynostosis, Midface retrusion, Decreased calvarial ossifica... OMIM:614592
Grant Syndrome
Narrow chest, Micrognathia, Abnormal cortical bone morphology, Abnormality of the glenoid fossa, ... ORPHA:2097
Acrorenal Syndrome
Abnormal morphology of ulna, Abnormality of tibia morphology, Aplasia/Hypoplasia of the radius, S... ORPHA:971
Buschke-Ollendorff Syndrome
Flexion contracture, Recurrent fractures, Cutaneous finger syndactyly, Arthritis, Osteopoikilosis... ORPHA:1306
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis, Osteopenia OMIM:614732
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Abnormal metacarpal morphology, Elbow dislocation, Mesomelia, Abnormal m... ORPHA:2631
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Abnormality of the dentition, Brachydactyly OMIM:615982
Coloboma Of Macula And Skeletal Anomalies
Genu valgum, Coxa valga, Hallux valgus, Cleft palate, Contracture of the distal interphalangeal j... OMIM:216800
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Holoprosencephaly-Craniosynostosis Syndrome
Brachycephaly, Coxa valga, Plagiocephaly, Clinodactyly of the 5th finger, Brachydactyly, Short di... ORPHA:2163
Trigonocephaly 1
Metopic synostosis, Craniosynostosis, Trigonocephaly OMIM:190440
Multiple Metaphyseal Dysplasia
Aplasia/Hypoplasia of the thumb, Abnormal metaphysis morphology, Micromelia, Abnormality of tibia... ORPHA:93430
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal pelvic gi... ORPHA:2370
Ghosal Hematodiaphyseal Dysplasia
Abnormal pelvic girdle bone morphology, Abnormality of tibia morphology, Abnormality of femur mor... ORPHA:1802
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Radioulnar dislocation, Hypoplastic ilia, Abnormality of the elbow, Hip dysplasia, Elbow flexion ... ORPHA:93359
Scalp Defects-Postaxial Polydactyly Syndrome
Calvarial skull defect, Postaxial polydactyly type A ORPHA:1003
Craniotelencephalic Dysplasia
Craniosynostosis OMIM:218670
Osteogenesis Imperfecta, Type Ix
Bowing of limbs due to multiple fractures, Recurrent fractures, Short lower limbs, Pectus excavat... OMIM:259440
Acromesomelic Dysplasia, Maroteaux Type
Joint hyperflexibility, Brachydactyly, Sprengel anomaly, Joint stiffness, Acromesomelia, Bowing o... ORPHA:40
Split-Hand/Foot Malformation 2
Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand OMIM:313350
Grant Syndrome
Down-sloping shoulders, Wormian bones, Tibial bowing OMIM:138930
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna OMIM:314360
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Elbow dislocation, Madelung deformity, Abnormal metaphys... ORPHA:240
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Ulnar deviation of finger, Micromelia, Elbow dislocation, Hypoplasia of... ORPHA:2249
Pfeiffer Syndrome
Short middle phalanx of toe, Finger syndactyly, Brachyturricephaly, Humeroradial synostosis, Coro... OMIM:101600
Antley-Bixler Syndrome
Brachycephaly, Delayed cranial suture closure, Camptodactyly of finger, Recurrent fractures, Turr... ORPHA:83
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Brachycephaly, Turricephaly, Toe syndactyly, Radioulnar synostosis, Large fontanelles, Short palm... ORPHA:171839
Mesomelic Dysplasia, Nievergelt Type
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Abnormality of the wrist, Ra... ORPHA:2633
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Dea... OMIM:122860
Short phalanx of finger, Irregular carpal bones, Limited elbow extension, Delayed epiphyseal ossi... OMIM:177170
Craniotelencephalic Dysplasia
Craniosynostosis, Frontal bossing ORPHA:1528
Terminal Osseous Dysplasia
Camptodactyly of finger, Short toe, Mesomelic leg shortening, Multiple joint contractures, Abnorm... OMIM:300244
Achondrogenesis Type 1B
Short thorax, Abnormal enchondral ossification, Narrow chest, Micrognathia, Micromelia, Abnormal ... ORPHA:93298
Cardiocranial Syndrome, Pfeiffer Type
Sagittal craniosynostosis, Plantar flexion contracture, Cutaneous syndactyly of toes, Dolichoceph... ORPHA:2872
Cole-Carpenter Syndrome 1
Orbital craniosynostosis, Recurrent fractures, Coronal craniosynostosis, Midface retrusion, Front... OMIM:112240
Limb-Mammary Syndrome
Hallux valgus, Joint contracture of the hand, Hypodontia, Bifid uvula, Camptodactyly, Syndactyly,... OMIM:603543
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Van Der Woude Syndrome 2
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate OMIM:606713
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Brachycephaly, Flexion contracture, Wide anterior fontanel, Humeroradial synostosis, Coronal cran... OMIM:207410
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Joint hypermobility, Pectus excavatum, Abn... OMIM:602196
Polydactyly, Postaxial, Type A6
Postaxial hand polydactyly, Abnormality of dental morphology, Broad phalanges of the 5th finger, ... OMIM:615226
Achondrogenesis Type 1A
Short thorax, Short foot, Abnormal enchondral ossification, Recurrent fractures, Multiple rib fra... ORPHA:93299
Sillence Syndrome
Large iliac wing, Camptodactyly, Abnormal distal phalanx morphology of finger, Metatarsus adductu... ORPHA:3168
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Fibular overgrowth, Bell-shaped thorax, Coxa vara, Short fe... OMIM:602557
Cole-Carpenter Syndrome 2
Recurrent fractures, Turricephaly, Coronal craniosynostosis, Midface retrusion, Frontal bossing, ... OMIM:616294
Osteogenesis Imperfecta, Type Xvi
Recurrent fractures, Rhizomelia, Short long bone, Multiple rib fractures, Microretrognathia, Join... OMIM:616229
Holt-Oram Syndrome
Triphalangeal thumb, Absent thumb, Finger syndactyly, Abnormality of the humerus, Abnormal metaca... ORPHA:392
Carpenter Syndrome 1
Brachycephaly, Coxa valga, Lateral displacement of patellae, Toe syndactyly, Flared iliac wing, C... OMIM:201000
Coxa valga, Abnormal metaphysis morphology, Death in infancy, Joint hyperflexibility, Micromelia,... ORPHA:166272
Brachydactyly, Limb undergrowth, Thoracic hypoplasia, Short long bone ORPHA:221054
Larsen Syndrome
Accessory carpal bones, Finger syndactyly, Large joint dislocations, Laryngotracheomalacia, Broad... ORPHA:503
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Epiphyseal stippling, Limitation of joint mobility, Spina bifida occulta, Limb underg... ORPHA:177
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent fractures, Joint hypermobility, Frontal bossing, Osteopenia, Craniosynostosis OMIM:147060
Leri-Weill Dyschondrosteosis
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Limited elb... OMIM:127300
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Cuboidal metacarpal, Hip dislocation, Joint stiffness, Abnormal pelvic girdle b... ORPHA:968
Cdags Syndrome
Brachycephaly, Delayed cranial suture closure, Sagittal craniosynostosis, Parietal foramina, Coro... OMIM:603116
Bardet-Biedl Syndrome 8
Brachycephaly, Postaxial polydactyly OMIM:615985
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Patellar hypoplasia, Patellar aplasia, Coxa vara, High palate, Flat capital femoral epiphysis, Sh... OMIM:147891
Atelosteogenesis Type Ii
Short phalanx of finger, Thoracic hypoplasia, Ulnar deviation of the hand or of fingers of the ha... ORPHA:56304
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Joint contracture of the hand, Camptodactyly, Limb undergrowth, Overlapping fingers, Micromelia OMIM:601016
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Increased susceptibility to fractures, Epiphyseal streaking, Clinodactyly of the 4th toe, Hyperos... OMIM:604922
Metaphyseal Acroscyphodysplasia
Short toe, Genu varum, Coxa valga, Cone-shaped metacarpal epiphyses, Micromelia, Abnormal diaphys... ORPHA:1240
Short-Rib Thoracic Dysplasia 18 With Polydactyly
2-3 toe syndactyly, Thoracic hypoplasia, Short ribs, Radial bowing, Micrognathia, Missing ribs, U... OMIM:617866
Ulnar Hemimelia
Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis, Abnormal 3rd metac... ORPHA:93320
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flared, irregular rib ends, Metaphyseal cupping, Coxa vara, Rhizomelia, Radial bowing... OMIM:602111
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the knee, Tapered finger, Abnormal cortical bone morphology, ... ORPHA:970
Van Der Woude Syndrome
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Multiple Synostoses Syndrome 4
Overlapping toe, Tarsal synostosis, Otosclerosis, Brachydactyly OMIM:617898
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Skull asymmetry, Short femoral neck, Short metacarpal, Narrow pelvis bone, Carpal bone hypoplasia... OMIM:616723
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Cleft palate, Fibular ... OMIM:165590
Orofaciodigital Syndrome Xvii
Polydactyly, Short middle phalanx of the 2nd finger, Clinodactyly, Clubbing of fingers, Partial d... OMIM:617926
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... ORPHA:93314
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short metacarpal, Rhizomelia, Hypoplast... OMIM:608940
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Overlapping toe, Di... ORPHA:457395
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Long toe, Cleft lip, Arachnodactyly, Cleft palate, Large hands OMIM:300263
Stuve-Wiedemann Syndrome 2
Thoracic hypoplasia, Short long bone, Camptodactyly, Stillbirth, Death in adolescence, Neonatal d... OMIM:619751
Mucolipidosis Iii Alpha/Beta
Short long bone, Irregular carpal bones, Carpal bone hypoplasia, Soft tissue swelling of interpha... OMIM:252600
Weyers Ulnar Ray/Oligodactyly Syndrome
Absent thumb, Cleft upper lip, High palate, Hypoplasia of the radius, Hand oligodactyly, Solitary... OMIM:602418
Greenberg Dysplasia
Short phalanx of finger, Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Tetr... OMIM:215140
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ilia, Thoracic hypop... OMIM:614524
Lethal Congenital Contracture Syndrome Type 1
Abnormality of the elbow, Recurrent fractures, Slender long bone, Micrognathia, Abnormal cortical... ORPHA:1486
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short phalanx of finger, Short thorax, Short metacarpal, Angel-shaped phalanx, Flat acetabular ro... OMIM:617102
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Aganglionic megacolon, Polysyndactyly of hallux OMIM:235750
Macrocephaly-Developmental Delay Syndrome
Scaphocephaly, Craniosynostosis, Clinodactyly of the 5th finger, Frontal bossing ORPHA:397612
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Genu valgum, Hypoplastic pubic bone, Coxa vara, Anterior rib cupping, H... OMIM:184250
Facial Clefting, Oblique, 1
Cleft palate, Deep palmar crease, Cleft upper lip OMIM:600251
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Flat glenoid fossa, Short palm, Metaphyseal irregularity, Genu valgum, Short ribs, Broad phalanx,... OMIM:250420
Acromesomelic Dysplasia 2C
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... OMIM:201250
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Non-midline cleft lip, Radioulnar synostosis, Clinodactyly of the 5th finger, Abnormal pelvic gir... ORPHA:2725
Choanal Atresia
Tracheomalacia, Polydactyly, Craniosynostosis ORPHA:137914
Hydrolethalus Syndrome 2
Postaxial hand polydactyly, Preaxial foot polydactyly, Cleft palate, Postaxial foot polydactyly OMIM:614120
Congenital Factor X Deficiency
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... ORPHA:328
Osteoglosphonic Dysplasia
Craniosynostosis, Abnormal bone ossification, Brachydactyly ORPHA:2645
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Prenatal death, Micrognathia, Camptodactyly, Neonatal death, Arthrogryposis mul... OMIM:618393
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Irregular epiphyses, Abnorm... ORPHA:1856
X-Linked Intellectual Disability, Cilliers Type
Coronal craniosynostosis, Clinodactyly of the 5th finger, Small hand ORPHA:163971
Cleidocranial Dysplasia 2
Genu valgum, Coxa valga, Aplastic clavicle, Wide anterior fontanel, Delayed ossification of carpa... OMIM:620099
Fgfr2-Related Bent Bone Dysplasia
Metopic depression, Coronal craniosynostosis, Midface retrusion, Hypoplastic ischia, Bowing of th... ORPHA:313855
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Coxa valga OMIM:616943
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition, Short hallux, Sandal gap OMIM:216300
Short Rib-Polydactyly Syndrome
Short tibia, Polydactyly, Horizontal ribs, Absent or minimally ossified vertebral bodies, Thoraci... ORPHA:1505
Cranioectodermal Dysplasia 4
Sagittal craniosynostosis, Cutaneous finger syndactyly, Hip dysplasia, Joint hypermobility, Front... OMIM:614378
Corpus Callosum Agenesis-Neuronopathy Syndrome
Craniosynostosis, Turricephaly ORPHA:1496
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Acrocraniofacial Dysostosis
Triphalangeal thumb, Genu valgum, Coxa valga, Tapered finger, Turricephaly, Short 1st metacarpal,... ORPHA:949
Ruvalcaba Syndrome
Short phalanx of finger, Short foot, Short metacarpal, Small hand, Micromelia, Limited elbow exte... OMIM:180870
Enlarged thorax, Short thorax, Absent or minimally ossified vertebral bodies, Missing ribs, Narro... ORPHA:66637
Otopalatodigital Syndrome Type 1
Abnormality of the tarsal bones, Synostosis of carpal bones, Abnormal metacarpal morphology, Olig... ORPHA:90650
Thoracolaryngopelvic Dysplasia
Hypoplastic iliac wing, Horizontal ribs, Bell-shaped thorax, Short ribs, Irregular chondrocostal ... OMIM:187760
Acrocraniofacial Dysostosis
Oxycephaly, Short first metatarsal, Short 1st metacarpal, Metatarsus adductus, Craniosynostosis OMIM:201050
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Laurin-Sandrow Syndrome
Triphalangeal thumb, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Absent radius,... OMIM:135750
Thoracic hypoplasia, Wide anterior fontanel, Rhizomelia, Short long bone, Flat acetabular roof, S... ORPHA:15
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Short metacarpal, Deep philtrum, Microdontia, Clinodactyly, Radioulnar synostosis, Ca... OMIM:605282
Holt-Oram Syndrome
Triphalangeal thumb, Absent thumb, Abnormal carpal morphology, Hypoplasia of the radius, Aplasia ... OMIM:142900
X-Linked Intellectual Disability, Van Esch Type
Coronal craniosynostosis, Clinodactyly of the 5th finger ORPHA:163976
Joubert Syndrome 20
Inability to walk, Postaxial polydactyly, 4-5 toe syndactyly OMIM:614970
Atelosteogenesis, Type I
Thoracic hypoplasia, Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Elbo... OMIM:108720
Bone Dysplasia, Lethal Holmgren Type
Bell-shaped thorax, Abnormality of the elbow, Rhizomelia, Short ribs, Narrow chest, Abnormal thum... ORPHA:1842
Short toe, Congenital finger flexion contractures, Hand polydactyly, Syndactyly, Brachydactyly OMIM:114150
Achondrogenesis, Type Ii
Hypoplastic iliac wing, Horizontal ribs, Short tubular bones of the hand, Short long bone, Short ... OMIM:200610
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Narrow greater sciatic notch, Shor... OMIM:228520
Dyggve-Melchior-Clausen Disease
Camptodactyly, Flat glenoid fossa, Narrow greater sciatic notch, Talipes equinovarus, Hypoplastic... OMIM:223800
Orofaciodigital Syndrome Type 10
Short tibia, Short toe, Radial deviation of the hand, Cleft soft palate, Long philtrum, Metatarsa... ORPHA:2756
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Short thorax, Coxa valga, Narrow chest, Microgna... ORPHA:2484
Frontal Encephalocele
Spina bifida, Hydrocephalus, Encephalocele ORPHA:1931
Spondylometaphyseal Dysplasia, Kozlowski Type
Coxa vara, Elbow flexion contracture, Flared iliac wing, Flat acetabular roof, Halberd-shaped pel... OMIM:184252
Weismann-Netter Syndrome
Kyphosis, Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna,... ORPHA:3344
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Asymmetric radial dysplasia, A... OMIM:171480
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Horizontal ribs, Thoracic hypoplasia, Hypoplastic ilia, Short ribs, Hypoplasia of the radius, Mic... OMIM:617895
Meckel Syndrome, Type 3
Postaxial hand polydactyly, Polydactyly, Cleft palate, Postaxial foot polydactyly OMIM:607361
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Ulnar deviation of finger, Elbow dislocation, Hypoplasia of the ulna,... ORPHA:2634
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta, Biconcave vertebral bodies, Anterior radial head dislocation, Hyperext... OMIM:610967
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Delayed closure of the anterior fontanelle, Clinodactyly of the 5th finger, Upper li... ORPHA:231140
Apert Syndrome
Brachycephaly, Delayed cranial suture closure, Humeroradial synostosis, Midface retrusion, Large ... OMIM:101200
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
9Q21.13 Microdeletion Syndrome
Polydactyly, Craniosynostosis, Hip dysplasia ORPHA:531151
Joubert Syndrome 17
Ataxia, 3-4 finger syndactyly, Preaxial polydactyly, Postaxial polydactyly OMIM:614615
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Radial bowing, Micrognathia, Lower limb undergrowth, Abnormal rib ... ORPHA:3035
Spondylometaphyseal Dysplasia, Axial
Thoracic hypoplasia, Short femoral neck, Coxa vara, Anterior rib cupping, Rhizomelia, Proximal fe... OMIM:602271
Curry-Jones Syndrome
Preaxial hand polydactyly, 2-3 finger syndactyly, Preaxial foot polydactyly, Unicoronal synostosi... OMIM:601707
Hemifacial Microsomia With Radial Defects
Triphalangeal thumb, Non-midline cleft lip, Complete duplication of thumb phalanx, Cleft palate, ... OMIM:141400
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Brachycephaly, Genu valgum, Plagiocephaly, Tapered finger, Midface retrusion, Dolichocephaly, Joi... OMIM:619721
X-Linked Hypophosphatemia
Abnormal lower-limb metaphysis morphology, Flared iliac wing, Sacroiliac joint synovitis, Reduced... ORPHA:89936
Gomez-Lopez-Hernandez Syndrome
Brachycephaly, Skull asymmetry, Turricephaly, Wide anterior fontanel, Midface retrusion, Craniosy... OMIM:601853
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele OMIM:182940
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Ulnar deviation of finger, Micromelia, Abnormal pelvic girdle bone morph... ORPHA:2928
Osteopetrosis, Autosomal Recessive 1
Osteomyelitis, Coxa vara, Calvarial osteosclerosis, Increased bone mineral density, Pathologic fr... OMIM:259700
Osteogenesis Imperfecta, Type X
Thin bony cortex, Genu valgum, Thoracic hypoplasia, Broad ribs, Death in childhood, Generalized j... OMIM:613848
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Knee flexion contracture, Limb joint contracture, Ankle flexion contracture, Bilateral talipes eq... ORPHA:284417
Platyspondylic Dysplasia, Torrance Type
Genu varum, Metaphyseal cupping, Short thorax, Abnormal carpal morphology, Narrow chest, Hypoplas... ORPHA:85166
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Metaphyseal irregularity, Enlargement of the costochondral junction, Delayed ep... OMIM:600081
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of fibula morphology, Abnormal metacarpal morphology, Abnormal morphology of ulna, Ap... ORPHA:1837
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Elbow flexion contracture, Disloc... OMIM:305620
Horizontal ribs, Enlarged thorax, Short thorax, Short long bone, Short ribs, Poorly ossified vert... ORPHA:3003
Autosomal Recessive Kenny-Caffey Syndrome
Thin clavicles, Small hand, Calvarial osteosclerosis, Stenosis of the medullary cavity of the lon... ORPHA:93324
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Coxa valga, Supernumerary ribs, Bilateral talipes equinovarus, Finger clinodactyly, Osteoporosis ORPHA:2958
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Short femo... OMIM:609441
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Fibular overgrowth, Thoracic hypoplasia, Generalized bone d... ORPHA:93352
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Li... OMIM:601356
Laurin-Sandrow Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... ORPHA:2378
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Patellar hypoplasia, Patellar aplasia, Short metacarpal, Hypoplasia of the radi... OMIM:617604
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Knee flexion contracture, Vertebral fusion, Hip contracture, Cutaneous finger syndactyly, Multipl... OMIM:178110
Poland Syndrome
Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Synd... OMIM:173800
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short phalanx of finger, Toe syndactyly, Aplasia/hypoplasia of the femur, Flared iliac wing, Hip ... OMIM:609945
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormality of the vertebral column, Palmoplantar keratoderma, Obesity, Abnormal pelvis bone morp... ORPHA:2206
Brachydactyly, Type E1
Short metacarpal, Brachydactyly, Short clavicles, Short metatarsal, Straight clavicles, Type E br... OMIM:113300
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Dumbbell-shaped long bone, Rhizomelia, Micrognathia, Micromelia, Short femur, Femoral bowing, Bra... ORPHA:440354
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Polydactyly, Short long bone OMIM:613819
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morph... OMIM:144750
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Foot polydactyly, Postaxial hand polydactyly, Aganglionic megacolon ORPHA:2155
Chromosome 5P13 Duplication Syndrome
Brachycephaly, Turricephaly, Frontal bossing, Single transverse palmar crease, Long fingers, Larg... OMIM:613174
Short thorax, Abnormal enchondral ossification, Micrognathia, Abnormality of bone mineral density... ORPHA:932
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand, Ataxia OMIM:245800
Laron Syndrome
Limb undergrowth, Short long bone OMIM:262500
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis OMIM:241310
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Flexion contracture, Craniosynostosis OMIM:619076
Pfeiffer Syndrome
Symphalangism affecting the phalanges of the hand, Hyperlordosis, Mandibular prognathia, Finger s... ORPHA:710
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Short clavicles, Osteopenia, Down-sloping shoulders OMIM:212112
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Rhizomelia, Short finger, Irregular epiphyses, Joint laxity, Barrel-shaped chest, Broad thumb, Me... OMIM:612813
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Advanced ossification of carpal bones, Joint contracture of the hand, Short long bone, Short ribs... OMIM:224400
Cranioectodermal Dysplasia 3
Sagittal craniosynostosis, 2-3 toe syndactyly, Scaphocephaly, Dolichocephaly, Joint laxity, Front... OMIM:614099
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad femoral neck, Thin bony cortex, Coxa valga, Short tubular bones of the hand, Wide anterior ... ORPHA:85184
Nievergelt Syndrome
Genu valgum, Radioulnar synostosis, Metatarsal synostosis, Mesomelia, Tarsal synostosis, Talipes ... OMIM:163400
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Oligodontia of primary teeth, Abnormality of the wrist, Carpal synostosis, Cleft palate, Tarsal s... ORPHA:2010
Becker Nevus Syndrome
Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Upper limb asymmetry, Abnormality of ... ORPHA:64755
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
Mesomelic Dysplasia, Savarirayan Type
Short tibia, Abnormal thorax morphology, Hip dislocation, Dislocated radial head, Mesomelia, Fibu... OMIM:605274
Joubert Syndrome 10
Postaxial polydactyly, Frontal bossing OMIM:300804
Sheldon-Hall Syndrome
Ulnar deviation of the wrist, Vertebral segmentation defect, Micrognathia, Ulnar deviation of fin... ORPHA:1147
Joubert Syndrome 27
Gait ataxia, Polydactyly, Ataxia OMIM:617120
Juberg-Hayward Syndrome
Abnormality of the elbow, Abnormal finger morphology, Toe syndactyly, Hypoplasia of the radius, A... ORPHA:2319
Camptodactyly of finger, Bell-shaped thorax, Broad ribs, Wide anterior fontanel, Short ribs, Narr... ORPHA:2021
Mesomelic Dysplasia, Kantaputra Type
Radial bowing, Tarsal synostosis, Carpal synostosis, Mesomelia OMIM:156232
Mesomelia-Synostoses Syndrome
Genu valgum, Abnormality of the humerus, Synostosis of carpal bones, Abnormal metacarpal morpholo... ORPHA:2496
Frontoocular Syndrome
Coronal craniosynostosis, Trigonocephaly OMIM:605321
Crouzon Syndrome
Brachycephaly, Turricephaly, Midface retrusion, Frontal bossing, Multiple suture craniosynostosis ORPHA:207
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Short long bone, Short ribs, Flat acetabular roof, Thoracic dysplasia, Micromelia, S... OMIM:614091
Langer Mesomelic Dysplasia
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Radial bowing, Micrognathi... OMIM:249700
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Fractured radius, Thoracic hypoplasia, Short ribs, Multiple rib fractures, M... OMIM:616897
Dyssegmental Dysplasia, Silverman-Handmaker Type
Flexion contracture, Hypoplastic pubic bone, Hypoplastic ilia, Short long bone, Short ribs, Micro... ORPHA:1865
White Forelock With Malformations
Finger syndactyly, Clinodactyly of the 5th finger, Spina bifida occulta, Joint hyperflexibility, ... ORPHA:2475
Campomelia, Cumming Type
Death in infancy, Abnormal thorax morphology, Clubbing of toes, Micromelia, Brachydactyly, Abnorm... ORPHA:1318
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Micromelia OMIM:273680
Parenti-Mignot Neurodevelopmental Syndrome
Craniosynostosis, Frontal bossing OMIM:619873
Say Syndrome
Short distal phalanx of finger, Ulnar deviation of the 3rd finger, Tapered finger, Cleft palate OMIM:181180
Mohr Syndrome
Lobulated tongue, Metaphyseal irregularity, Preaxial hand polydactyly, Bifid tongue, High palate,... OMIM:252100
Kenny-Caffey Syndrome, Type 1
Thin clavicles, Short foot, Small hand, Calvarial osteosclerosis, Slender long bone, Long clavicl... OMIM:244460
Orofaciodigital Syndrome Type 5
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... ORPHA:2919
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Patellar aplasia, Finger syndactyly, ... ORPHA:3329
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Coxa vara, Hip dysplasia, Preaxial foot polydactyly, Micrognathi... ORPHA:1988
Meckel Syndrome, Type 5
Cleft upper lip, Postaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate, Bowing of ... OMIM:611561
Crane-Heise Syndrome
Aplastic clavicle, Finger syndactyly, Toe syndactyly, Micrognathia, Joint stiffness, Decreased sk... ORPHA:1512
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Short long bone, Short ribs, Thoracic dysplasia, Femoral bowing, Syndactyly, Preaxial polydactyly... OMIM:615503
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Finger syndactyly, Limitation of joint mobility, Sandal gap, Craniosynos... ORPHA:178303
Al-Gazali-Bakalinova Syndrome
Polydactyly, Genu valgum, Tapered finger, Clinodactyly, Frontal bossing, Epiphyseal dysplasia, Fl... OMIM:607131
Hypophosphatasia, Infantile
Increased susceptibility to fractures, Metaphyseal cupping, Short lower limbs, Unossified vertebr... OMIM:241500
Cleidocranial Dysplasia
Tapered finger, Delayed eruption of teeth, Hypoplastic inferior ilia, Micrognathia, Spina bifida ... ORPHA:1452
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Joint hyperflexibility, Decreased calvarial ossification, Micromelia, Abnorm... ORPHA:2772
Frontometaphyseal Dysplasia