Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal brain morphology Twist1em1(IMPC)Rbrc HET Early adult 0.00
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
increased lean body mass Twist1em1(IMPC)Rbrc HET Early adult 8.73×10-07
increased grip strength Twist1em1(IMPC)Rbrc HET Early adult 4.53×10-05
abnormal zygomatic bone morphology Twist1em1(IMPC)Rbrc HET Early adult 6.97×10-11
abnormal vertebral arch morphology Twist1em1(IMPC)Rbrc HET Early adult 2.39×10-06
abnormal nail morphology Twist1em1(IMPC)Rbrc HET   Early adult 3.54×10-15
abnormal cranium morphology Twist1em1(IMPC)Rbrc HET Early adult 4.18×10-10
abnormal autopod morphology Twist1em1(IMPC)Rbrc HET Early adult 3.54×10-15
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.

X-ray

XRay Images Skull Dorso Ventral Orientation

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

21 Images

Combined SHIRPA and Dysmorphology

Images

9 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 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
phenotypes
Matching phenotypes Source
Craniosynostosis 7
Craniosynostosis OMIM:617439
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
Craniosynostosis 1
Craniosynostosis, Dolichocephaly, Oxycephaly, Turricephaly, Scaphocephaly OMIM:123100
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Absent thumb, Craniosynostosis, Absent middle phalanx of 2nd finger, Proximal placement of thumb,... OMIM:218530
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormality of finger OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Chromosome 2Q35 Duplication Syndrome
3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, S... OMIM:185900
Aurocephalosyndactyly
4-5 toe syndactyly, Craniosynostosis OMIM:109050
Summitt Syndrome
Craniosynostosis, Syndactyly, Oxycephaly OMIM:272350
Craniosynostosis, Adelaide Type
Shortening of all distal phalanges of the fingers, Craniosynostosis, Shortening of all middle pha... OMIM:600593
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Polydactyly, Postaxial, Type A6
Broad phalanges of the 5th finger, Postaxial hand polydactyly OMIM:615226
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
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
Syndactyly, Type Iv
6 metacarpals, 2-3 toe syndactyly, Triphalangeal thumb, Supernumerary metacarpal bones, Polydacty... OMIM:186200
Symphalangism, Distal
Brachydactyly, Craniosynostosis, Distal symphalangism of hands, Absent dorsal skin creases over a... OMIM:185700
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly OMIM:174200
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Syngnathia
Cleft palate OMIM:119550
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Craniorhiny
Craniosynostosis, Turricephaly, Oxycephaly OMIM:123050
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Broad hallux, Hallux varus, Syndactyly OMIM:234280
Craniosynostosis 3
Brachydactyly, Single transverse palmar crease, Right unicoronal synostosis, Left unicoronal syno... OMIM:615314
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis OMIM:123155
Kleeblattschaedel
Cloverleaf skull, Elbow ankylosis, Craniosynostosis OMIM:148800
Synpolydactyly 1
Short middle phalanx of the 5th finger, 4-5 toe syndactyly, 6 metacarpals, Postaxial foot polydac... OMIM:186000
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Craniosynostosis, Oligodactyly, Arachnodactyly, Humeroradial synostosis, Brachycephaly OMIM:614416
Acrocephalopolysyndactyly Type Iv
Clinodactyly, Syndactyly, Hand polydactyly, Oxycephaly, Ulnar deviation of the hand or of fingers... OMIM:201020
Jackson-Weiss Syndrome
Craniosynostosis, 2-3 toe syndactyly, Broad hallux, Midface retrusion, Calcaneonavicular fusion, ... OMIM:123150
Ectrodactyly-Cleft Palate Syndrome
Split hand, Cleft palate OMIM:129830
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate OMIM:172880
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Craniosynostosis, Single transverse palmar crease OMIM:218550
Banki Syndrome
Clinodactyly, Radial deviation of finger OMIM:109300
Polydactyly, Preaxial Iv
Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, 3-4 finger syndactyly, Dy... OMIM:174700
Non-Syndromic Sagittal Craniosynostosis
Prominent occiput, Frontal bossing, Dolichocephaly ORPHA:35093
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1566
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Metacarpal synostosis, Syndactyly OMIM:263450
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Brachydactyly, Polydactyly OMIM:617405
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Holoprosencephaly, Semilobar, With Craniosynostosis
Lambdoidal craniosynostosis, Coxa valga, Short distal phalanx of finger, Coronal craniosynostosis OMIM:601370
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Clinodactyly, Craniosynostosis, Dolichocephaly, Coronal craniosynost... OMIM:614188
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Clinodactyly of the 5th finger, Tapered finger, Short distal phalanx of fi... OMIM:311895
Van Der Woude Syndrome 2
Anodontia, Cleft upper lip, Cleft palate OMIM:606713
Metaphyseal Dysplasia, Spahr Type
Metaphyseal sclerosis, Progressive leg bowing, Metaphyseal chondrodysplasia, Metaphyseal dysplasi... OMIM:250400
Greig Cephalopolysyndactyly Syndrome
Toe syndactyly, Craniosynostosis, Finger syndactyly, Postaxial foot polydactyly, Frontal bossing,... ORPHA:380
Palant Cleft Palate Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Contracture of the proximal ... OMIM:260150
Craniosynostosis-Mental Retardation-Clefting Syndrome
Forearm undergrowth, Lower limb undergrowth, Craniosynostosis OMIM:218650
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Craniosynostosis ORPHA:2866
Hunter-Mcalpine Craniosynostosis Syndrome
Craniosynostosis OMIM:601379
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Metatarsus adductus, Polydactyly, Postaxial po... OMIM:613005
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Short metacarpal, Rhizomelia, Broad palm, Postaxial hand polydactyly, Narrow chest... OMIM:611263
Robin Sequence-Oligodactyly Syndrome
Abnormality of the ulna, Hand oligodactyly, Clinodactyly of the 5th finger, Glossoptosis, Abnorma... ORPHA:3104
Scalp Defects And Postaxial Polydactyly
Postaxial polydactyly type A OMIM:181250
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, 1-2 toe complete cutaneous syndactyly, Bifid distal phalanx of toe, Preaxial hand poly... OMIM:186350
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Multiple Synostoses Syndrome 3
Limited interphalangeal movement, Broad hallux, Cubitus valgus, Humeroradial synostosis, Broad th... OMIM:612961
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Ectrodactyly-Polydactyly Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ectrodactyly... ORPHA:1892
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Thickened calvaria, Increased bone mineral density, Brachycephaly ORPHA:178377
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Summitt Syndrome
Brachydactyly, Plagiocephaly, Craniosynostosis, Finger syndactyly, Short palm, Short 4th metacarp... ORPHA:3210
Potocki-Shaffer syndrome
Parietal foramina, Delayed cranial suture closure DECIPHER:34
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Split-Hand/Foot Malformation 1
Clinodactyly, Hand oligodactyly, Triphalangeal thumb, Broad hallux, Split foot, Foot oligodactyly... OMIM:183600
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Acropectoral Syndrome
Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly OMIM:605967
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Short 5th finger, Syndactyly OMIM:186100
Carpenter Syndrome
Brachydactyly, Toe syndactyly, Craniosynostosis, Finger syndactyly, Preaxial foot polydactyly, Ox... ORPHA:65759
Craniosynostosis 2
Brachydactyly, Craniosynostosis, Triphalangeal thumb, Frontal bossing, Turricephaly, Unicoronal s... OMIM:604757
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Dolichocephaly, Postaxial foot polydactyly, Preaxial foot polydactyly, Broad th... OMIM:175700
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Frontal bossing, Orbital craniosynostosis, Dolichocephaly ORPHA:1538
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Abnormal thorax morphology, Polydactyly, Upper limb phocomelia, Sti... ORPHA:294975
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Brachydactyly, Short 2nd toe, Postaxial hand polydactyly, Short thumb OMIM:176305
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metacarpal synostosis, Metatar... OMIM:608180
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Short thorax, Joint stiffness, Late... ORPHA:1801
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density, Rickets OMIM:241520
Chondrocalcinosis Due To Apatite Crystal Deposition
Costochondral pain, Costal cartilage calcification, Osteoarthritis of the small joints of the hand OMIM:118610
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Sagittal craniosynostosis OMIM:218450
Sprengel Deformity
Shoulder muscle hypoplasia, Abnormality of the shoulder girdle musculature, Cleft palate, Abnorma... ORPHA:3181
Astley-Kendall Dysplasia
Micromelia, Epiphyseal stippling ORPHA:85175
Trochlea Of The Humerus, Aplasia Of
Cleft palate, Short humerus OMIM:191000
Disorganization, Mouse, Homolog Of
Cleft upper lip, Hand polydactyly, Limb duplication, Cleft palate, Hip dislocation OMIM:223200
Prognathism, Mandibular
Craniosynostosis OMIM:176700
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Micrognathia, Generalized osteosclerosis, Micromelia, Limb undergrowth, ... ORPHA:1423
Polydactyly, Postaxial, With Progressive Myopia
Postaxial hand polydactyly OMIM:174310
Heart-Hand Syndrome Type 2
Brachydactyly, Abnormality of the ulna, Joint stiffness, Short 5th metacarpal, Asymmetry of the t... ORPHA:1350
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Enlargement of the costochondral junction, Metaphyseal irregularity, Coxa valga, M... OMIM:609052
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal rib morphology, Radioulnar synostosis... ORPHA:3268
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
16P13.11 Microduplication Syndrome
Craniosynostosis, Dolichocephaly, Hand polydactyly, Arachnodactyly, Joint hyperflexibility ORPHA:261243
Spondylometaphyseal Dysplasia, A4 Type
Short palm, Micromelia, Flared, irregular rib ends, Limitation of joint mobility, Coxa vara ORPHA:168555
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Generalized joint laxity, Irregular carpal bones, Abnormality ... ORPHA:750
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Short metacarpal, Up... ORPHA:93351
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Overlapping fingers, Short hallux, Short thumb, Broad hallux, Adducted thumb, Pate... OMIM:618167
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Chondrodysplasia With Joint Dislocations, Gpapp Type
Brachydactyly, Coronal craniosynostosis, Short metacarpal, Patellar dislocation, Short toe, Genu ... OMIM:614078
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Craniosynostosis OMIM:608432
Split-Foot Deformity With Mandibulofacial Dysostosis
Split foot, Toe syndactyly, Split hand, Cleft palate OMIM:183700
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Short ribs, Squared iliac bo... OMIM:215045
Metaphyseal Acroscyphodysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Micromelia, Short toe, Metaphyseal widening, Brachy... OMIM:250215
Spondylometaphyseal Dysplasia, East African Type
Brachydactyly, Genu varum, Metaphyseal spurs, Rounded epiphyses, Bell-shaped thorax, Short long b... OMIM:611702
Trigonocephaly With Short Stature And Developmental Delay
Lambdoidal craniosynostosis, Small anterior fontanelle, Clinodactyly of the 5th finger, Premature... OMIM:314320
Holzgreve Syndrome
Hand polydactyly, Cleft upper lip, Cleft palate OMIM:236110
Hypophosphatasia, Childhood
Frontal bossing, Craniosynostosis, Dolichocephaly, Bowing of the legs OMIM:241510
Mesomelic Limb Shortening And Bowing
Bowing of the arm, Bowing of the legs, Mesomelic leg shortening, Mesomelic arm shortening, Campto... OMIM:249710
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, 2-3 toe syndactyly, Cleft palate, Cutaneous finger syndactyly, Split hand, Split ... DECIPHER:46
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Congenital Laryngomalacia
Cleft palate, Non-midline cleft lip ORPHA:2373
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormality of pelvic girdle bone morphology, White forelock, Osteopathia striata, Abnormality of... ORPHA:2779
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Prominent metopic ridge, Brachycephaly, Trigonocephaly, Broad phalanx, Broad metatarsal OMIM:275595
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Brachycephaly, Midface retrusion OMIM:612247
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Short long bo... OMIM:250460
Muenke Syndrome
Brachydactyly, Plagiocephaly, Clinodactyly, Thimble-shaped middle phalanges of hand, Coronal cran... OMIM:602849
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Craniofacial hyperostosis, Diaphyseal thickening, Abnormal rib morphology, ... ORPHA:2790
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis ORPHA:88643
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Brachydactyly, Wormian bones, Osteoporosis, Frontal bossing, Short distal phalanx of finger, Join... ORPHA:2787
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Brachydactyly, Plagiocephaly, Craniosynostosis, Arthrogryposis multiplex congenita, Trigonocephaly OMIM:618265
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Preaxial hand polydactyly, Cleft upper lip, Cleft palate OMIM:601420
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Cleft palate, Non-midline cleft lip ORPHA:1074
Greenberg Dysplasia
Brachydactyly, Anterior rib punctate calcifications, Abnormal pelvis bone ossification, Rhizomeli... ORPHA:1426
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth, Short tibia, Short long... OMIM:118651
Lowry-Maclean Syndrome
Craniosynostosis OMIM:600252
Cranioectodermal Dysplasia
Prominent occiput, Brachydactyly, Craniosynostosis, Finger syndactyly, Dolichocephaly, Rhizomelia... ORPHA:1515
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Short thorax, Postax... ORPHA:474
Boomerang Dysplasia
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Abnormal bone ossif... ORPHA:1263
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Craniosynostosis OMIM:225755
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Brachydactyly, Micrognathia, Long thorax, Mesomelia, Abnormal shoulder morphology ORPHA:1277
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Metopic suture patent to nasal root, Multiple suture craniosynostosis, Small anterior fontanelle,... ORPHA:3369
Thoracomelic Dysplasia
Abnormality of pelvic girdle bone morphology, Short ribs, Abnormality of fibula morphology, Diaph... ORPHA:1803
Orofaciodigital Syndrome Xviii
Accessory oral frenulum, Short philtrum, Brachydactyly, Single transverse palmar crease, Sandal g... OMIM:617927
Metatropic Dysplasia
Joint stiffness, Camptodactyly of finger, Abnormal enchondral ossification, Clinodactyly of the 5... ORPHA:2635
Acrocapitofemoral Dysplasia
Cupped ribs, Genu varum, Small finger, Delayed ossification of carpal bones, Cone-shaped metacarp... OMIM:607778
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Brachydactyly, Pectus excavatum, Micromelia, Limb undergrowth, Massively thickened long bone cort... OMIM:122900
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Narrow iliac wing, Bowing of the legs, Hypoplastic pubic bone, Posterior rib... OMIM:608728
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Spondyloepiphyseal Dysplasia, Kimberley Type
Micromelia, Osteoarthritis, Short thorax, Abnormality of epiphysis morphology ORPHA:93283
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate, Absent radius OMIM:179400
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ischia, Hypoplastic pubic bone, Short ribs, Thin ribs, Decreased cranial base ossific... OMIM:151210
Trigonocephaly 1
Trigonocephaly, Craniosynostosis OMIM:190440
Metatropic Dysplasia
Cupped ribs, Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral me... OMIM:156530
Pfeiffer Syndrome Type 1
Toe syndactyly, Finger syndactyly, Short palm, Aplasia/Hypoplasia of the thumb, Short hallux, Hal... ORPHA:93258
Mesomelic Dysplasia, Kantaputra Type
Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormality of fibula morphology, Abn... ORPHA:1836
Bardet-Biedl Syndrome 7
Narrow mouth, Clinodactyly, 2-3 toe syndactyly, Polydactyly, Postaxial polydactyly OMIM:615984
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Irregularity of vertebral bodies, Short femoral neck, Flared femoral metaphysis, Broad femoral ne... OMIM:609324
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Abnormal trabecular bone morphology, Sho... ORPHA:79106
Curry-Jones Syndrome
Toe syndactyly, Craniosynostosis, Foot polydactyly, Finger syndactyly, Preaxial hand polydactyly,... ORPHA:1553
Bardet-Biedl Syndrome 5
Brachydactyly, Syndactyly, Polydactyly OMIM:615983
Acrocephalopolysyndactyly Type Iii
Craniosynostosis, Broad hallux, Oxycephaly, Preaxial hand polydactyly, Lower limb undergrowth, Br... OMIM:101120
Postaxial Tetramelic Oligodactyly
Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology, Abnormality of finger ORPHA:2730
Achondrogenesis, Type Ia
Hypoplastic ischia, Short ribs, Hypoplastic scapulae, Decreased skull ossification, Hypoplasia of... OMIM:200600
Postaxial Oligodactyly, Tetramelic
Single transverse palmar crease, Postaxial foot polydactyly, Partial-complete absence of 5th phal... OMIM:176240
Fibular Aplasia-Complex Brachydactyly Syndrome
Synostosis of carpal bones, Abnormal hip bone morphology, Brachydactyly, Abnormal thumb morpholog... ORPHA:2639
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Clubbing, Craniosynostosis, Arthropathy, Scaphocephaly, Hip dislocation, Joint contracture of the... OMIM:618523
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Trigonocephaly, Scaphocephaly, Craniosynostosis OMIM:616901
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormality of epiphysis morphology, Broad femo... ORPHA:2114
Ophthalmomandibulomelic Dysplasia
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Radioulnar disloca... ORPHA:2741
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Genu varum, Fragmentation of the metacarpal epiphyses, Abnormality of epiphysis morphology, Radia... ORPHA:166002
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Bowing of the legs, Pectus excavatum, Limited elbow extension, Limb undergrowth, Thoracic hypoplasia ORPHA:156728
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Triphalangeal Thumbs With Brachyectrodactyly
Brachydactyly, Short 2nd finger, Short 3rd toe, Triphalangeal thumb, Split hand, Split foot OMIM:190680
Acromesomelic Dysplasia 2A
Acromesomelia, Valgus hand deformity, Flexion contracture, Hypoplasia of the ulna, Fibular hypopl... OMIM:200700
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Finger syndactyly, Triphalangeal thumb, High, narrow palate, Short di... ORPHA:957
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Absent ossification of calv... OMIM:601376
Acrocapitofemoral Dysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Short thorax, Abnormal femoral neck morphology, Fla... ORPHA:63446
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Bowing of the long bones, Brachydactyly, Joint stiffness, Fibular hyp... ORPHA:2098
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Postaxial hand polydactyly, Preaxial foot polydactyly ORPHA:2091
Fibular Hemimelia
Fibular hypoplasia, Abnormal bone ossification, Limited knee flexion/extension, Short tibia, Incr... ORPHA:93323
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Vertebral hypoplasia, Short femoral neck, Short ribs, Joint... OMIM:602557
Autosomal Recessive Omodysplasia
Craniosynostosis, Pterygium, Rhizomelia, Elbow dislocation, Micromelia, Frontal bossing, Abnormal... ORPHA:93329
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormality of the ulna, Short femoral neck, Aplasia/Hypoplasia of the ... ORPHA:2632
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Preaxial foot polydactyly, Postaxial hand polydactyly, Bilateral triphalangeal thumbs OMIM:138790
Lethal Congenital Contracture Syndrome 3
Neonatal death, Multiple joint contractures, Arthrogryposis multiplex congenita OMIM:611369
Adducted Thumbs Syndrome
Craniosynostosis, Arthrogryposis multiplex congenita OMIM:201550
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of long bone morphology, Abnormality of pelvic girdle bone morphology, Short finger, ... OMIM:259270
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short hu... ORPHA:2019
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Diaphyseal thickening, Abnormal rib morphology ORPHA:1513
Congenital Disorder Of Glycosylation, Type Iin
Craniosynostosis, Osteopenia, Joint hypermobility OMIM:616721
Craniofrontonasal Dysplasia
Brachydactyly, Plagiocephaly, Congenital pseudoarthrosis of the clavicle, Craniosynostosis, Finge... ORPHA:1520
Hypochondroplasia
Brachydactyly, Genu varum, Abnormality of pelvic girdle bone morphology, Flared metaphysis, Limit... OMIM:146000
Craniosynostosis, Herrmann-Opitz Type
Brachydactyly, Craniosynostosis, Finger syndactyly, Micromelia, Turricephaly, Brachycephaly, Spli... ORPHA:2145
Au-Kline Syndrome
Craniosynostosis, Dolichocephaly, Deep palmar crease, Postaxial polydactyly, Hip dysplasia, Overl... OMIM:616580
Craniosynostosis 4
Pansynostosis, Lambdoidal craniosynostosis, Coronal craniosynostosis, Sagittal craniosynostosis, ... OMIM:600775
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Ectrodactyly, Aplasia/Hyp... OMIM:605289
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Short long bone, Lateral clavicle hook, Thoracic dysplasia, Bell-... OMIM:615633
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Short ribs, Squared iliac bones, Death in childhood, Limb undergrowth, Short long ... OMIM:618961
Bardet-Biedl Syndrome 6
Syndactyly, Polydactyly OMIM:605231
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Oral synechia, Cleft palate ORPHA:2016
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Orofaciodigital Syndrome Viii
High palate, Polydactyly, Short tibia, Cleft palate, Median cleft lip, Syndactyly OMIM:300484
Atelosteogenesis, Type Ii
Coronal cleft vertebrae, Cervical kyphosis, Abnormality of pelvic girdle bone morphology, Short n... OMIM:256050
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cupped ribs, Brachydactyly, Broad toe, Hypoplastic pubic bone, Delayed ossification of carpal bon... OMIM:609616
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Coronal cleft vertebrae, Micrognathia, Inguinal hernia, Scoliosis, Genu ... OMIM:618363
Metaphyseal Chondrodysplasia, Kaitila Type
Finger joint hypermobility, Metaphyseal irregularity, Delayed proximal femoral epiphyseal ossific... OMIM:250230
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Short philtrum, Abnormality of the dentition, Thick upper lip vermilion, Thin upper lip vermilion... OMIM:226440
Muenke Syndrome
Plagiocephaly, Carpal synostosis, Short palm, Coronal craniosynostosis, Cone-shaped epiphysis, Br... ORPHA:53271
Spondyloepimetaphyseal Dysplasia, Irapa Type
Enlargement of the costochondral junction, Hypoplastic sacrum, Short palm, Short metacarpal, Uppe... OMIM:271650
Craniosynostosis With Ocular Abnormalities And Hallucal Defects
Craniosynostosis, Dolichocephaly, Absent hallux, Metatarsus adductus, Frontal bossing, Absent toe OMIM:608279
Dyssegmental Dysplasia With Glaucoma
Broad long bones, Micromelia, Flared metaphysis, Wide anterior fontanel, Hip contracture, Short l... OMIM:601561
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Delayed closure of the anterior fontanelle, Brachycephaly, Flat occi... OMIM:618736
Hypochondroplasia
Brachydactyly, Genu varum, Bowing of the long bones, Abnormality of pelvic girdle bone morphology... ORPHA:429
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Short ribs, Delayed pubic bone ossification, De... ORPHA:93296
Axial Spondylometaphyseal Dysplasia
Cupped ribs, Acromesomelia, Abnormal ilium morphology, Delayed ossification of carpal bones, Apla... ORPHA:168549
Brachydactyly-Syndactyly Syndrome
Brachydactyly, Finger syndactyly, Oligodactyly, Short phalanx of finger, Short digit, Camptodacty... OMIM:610713
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Frontal bossing, Clinodactyly of the 5th finger, Craniosynostosis, Dolichocephaly ORPHA:1516
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Sandal gap, Short hallux, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Heart Defects-Limb Shortening Syndrome
Abnormal rib morphology, Mesomelic/rhizomelic limb shortening, Abnormality of the metaphysis, Nar... ORPHA:1354
Schneckenbecken Dysplasia
Advanced ossification of carpal bones, Brachydactyly, Metaphyseal irregularity, Anterior rib cupp... OMIM:269250
Curry-Jones Syndrome
Craniosynostosis, Duplication of thumb phalanx, Preaxial hand polydactyly, Broad thumb, Cutaneous... OMIM:601707
Aase-Smith Syndrome
Abnormal hip bone morphology, Slender finger, Multiple joint contractures, Trismus, Scoliosis, Ca... ORPHA:916
Orofaciodigital Syndrome Iv
Accessory oral frenulum, High palate, Tongue nodules, Clinodactyly, Foot polydactyly, Brachydacty... OMIM:258860
Orofaciodigital Syndrome Xi
Cleft palate, Postaxial polydactyly OMIM:612913
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of proximal phalanges, 11 pairs of ribs, Thin ribs, Rhizomelia, Decreased sku... OMIM:300863
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Dysplastic Cortical Hyperostosis
Limb undergrowth, Abnormality of limb bone morphology, Abnormal cortical bone morphology, Increas... ORPHA:2204
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Abnormal form of the vert... ORPHA:1802
Gordon Syndrome
High palate, Finger syndactyly, Clinodactyly of the 5th finger, Camptodactyly of finger, Cleft pa... ORPHA:376
Hartsfield Syndrome
Split hand, Craniosynostosis, Aplasia/Hypoplasia of the radius ORPHA:2117
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers,... OMIM:609813
Hypophosphatasia
Bowing of the long bones, Craniosynostosis, Recurrent fractures, Abnormality of the metaphysis, L... ORPHA:436
Arthrogryposis, Distal, Type 1C
Narrow mouth, High palate, Bifid uvula, Metacarpophalangeal joint contracture, Rocker bottom foot... OMIM:619110
Odontochondrodysplasia 1
Brachydactyly, Genu varum, Irregular epiphyses, Short long bone, Delayed ossification of carpal b... OMIM:184260
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Craniosynostosis, Joint hypermobility OMIM:618906
Acrorenal Syndrome
Abnormality of the ulna, Abnormality of tibia morphology, Split hand, Cleft palate, Aplasia/Hypop... ORPHA:971
Orofaciodigital Syndrome Vi
Accessory oral frenulum, High palate, Tongue nodules, Clinodactyly, Cleft upper lip, Brachydactyl... OMIM:277170
Craniosynostosis 6
Plagiocephaly, Craniosynostosis, Turricephaly, Delayed cranial suture closure, Brachycephaly OMIM:616602
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the vertebral column, Short femoral neck, Broad radial metaphysis, Wide distal fem... ORPHA:99642
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Hand oligodactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Coxoauricular Syndrome
Abnormality of pelvic girdle bone morphology, Abnormality of femur morphology, Micromelia, Reduce... ORPHA:1508
Achondrogenesis, Type Ii
Horizontal ribs, Short ribs, Barrel-shaped chest, Hypoplastic iliac wing, Short long bone, Broad ... OMIM:200610
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Toe syndactyly, Spina bifida occulta at S1, Finger syndactyly, Bifid ... OMIM:102510
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Genu varum, Metaphyseal irregularity, Flexion contracture, Short ribs, Delayed pubic bone ossific... OMIM:613330
Osteogenesis Imperfecta, Type Ii
Abnormality of pelvic girdle bone morphology, Recurrent fractures, Multiple prenatal fractures, T... OMIM:166210
Cranioectodermal Dysplasia 4
Broad phalanx of the toes, Joint hypermobility, Broad distal phalanx of finger, Frontal bossing, ... OMIM:614378
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Frontal bossing, Craniosynostosis, Brachycephaly ORPHA:314575
Diastrophic Dysplasia
Bowing of the long bones, Symphalangism affecting the phalanges of the hand, Joint stiffness, Inc... ORPHA:628
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Short ribs, Micromelia, Narrow chest, Hypoplastic ... OMIM:600972
Thanatophoric Dysplasia, Type Ii
Brachydactyly, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Wide-cupped cos... OMIM:187601
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Abnormality of epiphysis morphology, Rhizomelia, Decreased skull ossifi... ORPHA:93267
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Elbo... ORPHA:2631
Holoprosencephaly-Craniosynostosis Syndrome
Brachydactyly, Plagiocephaly, Craniosynostosis, Coxa valga, Clinodactyly of the 5th finger, Short... ORPHA:2163
Multiple Metaphyseal Dysplasia
Brachydactyly, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Aplasia/Hypopla... ORPHA:93430
Grant Syndrome
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Decreased skull ossificat... ORPHA:2097
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Abnormal form of the vertebral bodie... ORPHA:2370
Scalp Defects-Postaxial Polydactyly Syndrome
Postaxial polydactyly type A, Calvarial skull defect ORPHA:1003
Buschke-Ollendorff Syndrome
Craniosynostosis, Flexion contracture, Joint stiffness, Recurrent fractures, Abnormality of epiph... ORPHA:1306
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Coxa valga, Short greater sciatic notch, Platyspondyly OMIM:271620
Enlarged Parietal Foramina
Short clavicles, Craniosynostosis, Symmetrical, oval parietal bone defects, Broad thumb ORPHA:60015
Mesomelic Dysplasia, Savarirayan Type
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... ORPHA:85170
Terminal Osseous Dysplasia
Brachydactyly, Toe clinodactyly, Multiple joint contractures, Abnormal bone structure, Mesomelic ... OMIM:300244
Bent Bone Dysplasia Syndrome
Brachydactyly, Short clavicles, Coronal craniosynostosis, Midface retrusion OMIM:614592
Coffin-Siris Syndrome 7
Brachydactyly, Sagittal craniosynostosis, Trigonocephaly, Clinodactyly OMIM:618027
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot OMIM:313350
Cole-Carpenter Syndrome 1
Osteopenia, Recurrent fractures, Coronal craniosynostosis, Midface retrusion, Frontal bossing, Or... OMIM:112240
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Unilambdoid synostosis, Clinodactyly, Midface retrusion, Brachycephaly, Ulnar devi... OMIM:618577
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Abnormal ilium morphology, Short long bone, Abnormality of t... ORPHA:93316
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Short foot, Cleft palate, Small hand, Abnormal hand morphology OMIM:300261
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Elbow flexion contracture, Abnormality of epiphysis morphology, Radioulnar dislocation, Dislocate... ORPHA:93359
Hyperparathyroidism, Transient Neonatal
Osteopenia, Short ribs, Thin ribs, Narrow chest, Femoral bowing OMIM:618188
Grant Syndrome
Wormian bones, Down-sloping shoulders, Tibial bowing OMIM:138930
Pfeiffer Syndrome
Finger syndactyly, Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, B... OMIM:101600
Bardet-Biedl Syndrome 4
Brachydactyly, Abnormality of the dentition, Syndactyly, Polydactyly OMIM:615982
Mesomelic Dysplasia, Nievergelt Type
Genu varum, Abnormality of the ulna, Finger syndactyly, Bilateral single transverse palmar crease... ORPHA:2633
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Split foot, Hypoplasia of the ulna, Short finger, Syndactyly OMIM:314360
Fgfr2-Related Bent Bone Dysplasia
Brachydactyly, Bowing of the legs, Decreased calvarial ossification, Hypoplastic ischia, Osteopen... ORPHA:313855
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Recurrent fractures, Multiple prenatal fractures, Pectus excava... OMIM:259440
Pseudoachondroplasia
Genu varum, Flared femoral metaphysis, Irregular carpal bones, Metaphyseal widening, Fragmented e... OMIM:177170
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Joint stiffness, Hypoplasia of the radius, Elbow dislocation, Metatarsus ... ORPHA:2249
Acromesomelic Dysplasia, Maroteaux Type
Brachydactyly, Acromesomelia, Bowing of the long bones, Joint stiffness, Sprengel anomaly, Joint ... ORPHA:40
Weyers Ulnar Ray/Oligodactyly Syndrome
Absent thumb, High palate, Solitary median maxillary central incisor, Cleft upper lip, Hand oligo... OMIM:602418
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Flexion contracture, Coronal craniosynostosis, Rocker bottom foot, M... OMIM:207410
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Platybasia, Wormian bones, Abnormal joint morphology, Moderate generalized osteoporosis OMIM:166230
Achondrogenesis Type 1B
Short thorax, Abnormal enchondral ossification, Abnormal rib morphology, Micrognathia, Micromelia... ORPHA:93298
Craniotelencephalic Dysplasia
Frontal bossing, Craniosynostosis ORPHA:1528
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Coloboma Of Macula And Skeletal Anomalies
Coxa valga, Contracture of the distal interphalangeal joint of the 5th finger, Hallux valgus, Gen... OMIM:216800
Craniotelencephalic Dysplasia
Craniosynostosis OMIM:218670
Limb-Mammary Syndrome
Bifid uvula, Hypodontia, Syndactyly, Cleft palate, Hallux valgus, Camptodactyly, Split hand, Spli... OMIM:603543
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Craniosynostosis, Short palm, Radioulnar synostosis, Tu... ORPHA:171839
Meckel Syndrome, Type 8
Cleft upper lip, Polydactyly, Postaxial hand polydactyly, Talipes equinovarus, Cleft palate OMIM:613885
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Bilateral coxa valga, Abnormal ilium morphology, Abnormal vertebral morphology, Platyspondyly ORPHA:163665
Cardiocranial Syndrome, Pfeiffer Type
Slender finger, Small hypothenar eminence, Contracture of the proximal interphalangeal joint of t... ORPHA:2872
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Clinodactyly of the 3rd toe, Asymmetry of the thorax, Thin ribs, Increased susceptibility to frac... OMIM:604922
Antley-Bixler Syndrome
Craniosynostosis, Joint stiffness, Recurrent fractures, Arachnodactyly, Frontal bossing, Turricep... ORPHA:83
Rosselli-Gulienetti Syndrome
Cleft upper lip, Hypodontia, Microdontia, Abnormality of the philtrum, Palmoplantar hyperkeratosi... OMIM:225000
Short Stature-Obesity Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Micrognathia, Micromelia, Limb undergrowth OMIM:269870
Distal Arthrogryposis Type 1
Abnormal hip bone morphology, Rocker bottom foot, Overlapping fingers, Adducted thumb, Ulnar devi... ORPHA:1146
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Cleft upper lip, Overlapping fingers, Micromelia, Limb undergrowth, Camptodactyly, Cleft palate, ... OMIM:601016
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Micrognathia, Joint hypermobility, Abnormal rib morphology, Pectus excavatum, Hypoplastic distal ... OMIM:602196
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Skull asymmetry, Osteopenia, Craniosynostosis, Short femoral neck, Short metacarpal, Proximal fem... OMIM:616723
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Clinodactyly of the 5th finger, Preaxial polydactyly, Carious teeth, Midline n... OMIM:129540
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Tetramelic Monodactyly
Split hand, Split foot, Foot monodactyly, Hand monodactyly OMIM:187510
Achondrogenesis Type 1A
Recurrent fractures, Short thorax, Abnormal enchondral ossification, Short palm, Micrognathia, Mi... ORPHA:93299
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Craniosynostosis, Short femoral neck, Cone-shaped epiphysis, Short phalanx of finger, Frontal bos... OMIM:266920
Pycnodysostosis
Brachydactyly, Abnormality of pelvic girdle bone morphology, Spondylolysis, Osteolytic defects of... OMIM:265800
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Sillence Syndrome
Abnormal distal phalanx morphology of finger, Slender build, Aplasia of the middle phalanx of the... ORPHA:3168
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Microcephaly, Short Stature, And Limb Abnormalities
Brachydactyly, Dislocated radial head, Clinodactyly of the 5th finger, Short metacarpal, Hypoplas... OMIM:617604
Larsen Syndrome
Brachydactyly, Craniosynostosis, Finger syndactyly, Large joint dislocations, Abnormality of epip... ORPHA:503
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial dysplasia, Hypoplasia of the radius, Distal ulnar hypoplasia, Meso... OMIM:191440
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Brachydactyly, Oligodactyly, Ectrodactyly, Talipes equinovarus, Split hand OMIM:612576
Bardet-Biedl Syndrome 8
Brachycephaly, Polydactyly OMIM:615985
Mucolipidosis Iii Alpha/Beta
Craniosynostosis, Shallow acetabular fossae, Short long bone, Irregular carpal bones, Soft tissue... OMIM:252600
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Brachydactyly, Short thorax, Cone-shaped epiphyses of the phalanges of the hand, Sandal gap, Shor... OMIM:617102
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Rhizomelia, Joint hypermobility, Beaded ribs, Mesomelia OMIM:616229
Holt-Oram Syndrome
Absent thumb, Joint stiffness, Phocomelia, Finger syndactyly, Triphalangeal thumb, Abnormal clavi... ORPHA:392
Acromesomelic Dysplasia, Hunter-Thompson Type
Brachydactyly, Acromesomelia, Abnormality of pelvic girdle bone morphology, Joint stiffness, Shor... ORPHA:968
Rhizomelic Chondrodysplasia Punctata
Abnormality of epiphysis morphology, Rhizomelia, Epiphyseal stippling, Abnormality of the metaphy... ORPHA:177
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Long toe, Cleft lip, Arachnodactyly, Large hands, Cleft palate OMIM:300263
Carpenter Syndrome 1
Genu varum, Clinodactyly of the 5th finger, Complete duplication of proximal phalanx of the thumb... OMIM:201000
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Wormian bones, Toe clinodactyly, Dolichocephaly, Upper limb undergrowth, Pathologic fracture, Abn... ORPHA:166277
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Craniosynostosis, Osteopenia, Recurrent fractures, Joint hypermobility, Frontal bossing OMIM:147060
Orofaciodigital Syndrome Type 10
Accessory oral frenulum, Hypoplasia of proximal radius, Long philtrum, Cleft soft palate, Multipl... ORPHA:2756
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Bowing of the long bones, Cone-shaped metacarpal epiphyses, Coxa valga... ORPHA:1240
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Wormian bones, Narrow iliac wing, Osteopenia, Coronal craniosynostos... OMIM:616294
Odontochondrodysplasia
Bowing of the long bones, Coxa valga, Square pelvis bone, Short palm, Cone-shaped epiphysis, Micr... ORPHA:166272
Osteoglosphonic Dysplasia
Brachydactyly, Craniosynostosis, Rhizomelia, Abnormal bone ossification ORPHA:2645
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal hip bone morphology, Wormian bones, Abnormality of epiphysis morphology, Tapered finger,... ORPHA:970
Orofaciodigital Syndrome Xvii
Clinodactyly, Central Y-shaped metacarpal, Clubbing of fingers, Partial duplication of thumb phal... OMIM:617926
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis,... OMIM:122860
Spondylometaphyseal Dysplasia, Kozlowski Type
Genu varum, Abnormality of the vertebral column, Abnormal ilium morphology, Coronal cleft vertebr... ORPHA:93314
Atelosteogenesis Type Ii
Sandal gap, Rhizomelic arm shortening, Micrognathia, Micromelia, Ulnar deviation of the hand or o... ORPHA:56304
Ulnar Hemimelia
Carpal synostosis, Curved toe phalanx, Radial club hand, Short forearm, Aplasia of metacarpal bon... ORPHA:93320
Progressive Pseudorheumatoid Arthropathy Of Childhood
Genu varum, Abnormal ilium morphology, Irregularity of vertebral bodies, Broad femoral neck, Enla... ORPHA:1159
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Flat capital femoral epiphysis, High palate, Wide capital femoral epiphyses, Patellar hypoplasia,... OMIM:147891
Macrocephaly-Developmental Delay Syndrome
Frontal bossing, Clinodactyly of the 5th finger, Scaphocephaly, Craniosynostosis ORPHA:397612
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Decreased calvarial ossification, Missing ribs, Single transve... OMIM:617866
Cdags Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Midface retrusion, Frontal bossing, Delaye... OMIM:603116
Acrocephalopolydactyly
Thoracic hypoplasia, Limb undergrowth, Brachydactyly, Short long bone ORPHA:221054
Cleft Lip With Or Without Cleft Palate
Submucous cleft of soft and hard palate, Non-midline cleft palate, Non-midline cleft lip ORPHA:1991
Multiple Synostoses Syndrome 4
Brachydactyly, Otosclerosis, Overlapping toe, Tarsal synostosis OMIM:617898
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Genu valgum,... ORPHA:457395
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Osteoarthritis, Fe... OMIM:602111
Orofaciodigital Syndrome X
Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia, Cleft... OMIM:165590
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bowing of the legs, Bulging of the costochondral junction, Enlargement of the costochondral junct... OMIM:600081
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Polysyndactyly of hallux, Aganglionic megacolon, Preaxial foot polydactyly OMIM:235750
Greenberg Dysplasia
Multiple prenatal fractures, Hypoplastic vertebral bodies, 11 pairs of ribs, Broad palm, Decrease... OMIM:215140
Ophthalmomandibulomelic Dysplasia
Coxa valga, Radioulnar dislocation, Fibular hypoplasia, Abnormal thorax morphology, Elbow disloca... OMIM:164900
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Irregular epiphyses, Flattened epiphysis, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:1856
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Metaphyseal irregularity, Anterior rib cupping, Hypoplastic pubic bone, Delayed pu... OMIM:184250
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Cupped ribs, Narrow iliac wing, Genu varum, Broad palm, Metaphyseal widening, Genu valgum, Brachy... OMIM:250420
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Recurrent fractures, Abnormal rib morphology, Micrognathia, Slender... ORPHA:1486
Congenital Factor X Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhag... ORPHA:328
Chromosome 5P13 Duplication Syndrome
Craniosynostosis, Frontal bossing, Long fingers, Turricephaly, Brachycephaly, Large hands OMIM:613174
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cupped ribs, Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Joint stiffness,... OMIM:608940
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Short femoral neck, Rhizomelia, Proximal femoral metaphyseal irregularity, ... OMIM:602271
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Lower lip pit, Hypodontia, Lip pit, Cleft pa... ORPHA:888
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormal distal phalanx morphology of fin... ORPHA:2725
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate OMIM:137215
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Single transverse palmar crease, Shortening of all middle ... OMIM:201250
Choanal Atresia
Craniosynostosis, Tracheomalacia, Polydactyly ORPHA:137914
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Multipl... OMIM:178110
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate, Preaxial foot polydactyly OMIM:614120
Intellectual Developmental Disorder, Autosomal Dominant 57
Craniosynostosis, Joint hypermobility OMIM:618050
Short Rib-Polydactyly Syndrome
Horizontal ribs, Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, C... ORPHA:1505
Corpus Callosum Agenesis-Neuronopathy Syndrome
Craniosynostosis, Turricephaly ORPHA:1496
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Holt-Oram Syndrome
Absent thumb, Small thenar eminence, Thoracic scoliosis, Hypoplasia of the ulna, Phocomelia, Abse... OMIM:142900
Ruvalcaba Syndrome
Short palm, Short metacarpal, Short phalanx of finger, Limited elbow extension, Micromelia, Small... OMIM:180870
Fibrochondrogenesis 1
Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly of the 5th finger, Small hand, B... OMIM:228520
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Fibular duplication, Short fo... OMIM:135750
Acrocraniofacial Dysostosis
Abnormal hip bone morphology, Craniosynostosis, Coxa valga, Flared iliac wing, Triphalangeal thum... ORPHA:949
X-Linked Intellectual Disability, Cilliers Type
Clinodactyly of the 5th finger, Small hand, Coronal craniosynostosis ORPHA:163971
Camptomelic Syndrome, Long-Limb Type
Micromelia, Bowing of the long bones OMIM:211990
Ulna Metaphyseal Dysplasia Syndrome
Abnormal hip bone morphology, Abnormality of the ulna, Abnormal form of the vertebral bodies, Abn... ORPHA:1837
Bone Dysplasia, Lethal Holmgren Type
Abnormal thumb morphology, Abnormality of epiphysis morphology, Short ribs, Rhizomelia, Micromeli... ORPHA:1842
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Short ribs, Irregular chondrocostal junctions, Hypoplastic iliac wing, Bell-shap... OMIM:187760
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Bowing of the long bones, Short palm, Oligodontia, Sandal gap, Short ... ORPHA:90650
Microcephaly-Micromelia Syndrome
Craniosynostosis, Absent radius, Oligodactyly, Micromelia, Short tibia, Humeroradial synostosis, ... OMIM:251230
Endosteal Hyperostosis, Autosomal Dominant
Abnormality of pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, Thickene... OMIM:144750
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Short ribs, Polydactyly, Short long bone, Narrow chest OMIM:613819
Thanatophoric Dysplasia, Glasgow Variant
Micromelia, Neonatal death OMIM:273680
Acrocraniofacial Dysostosis
Craniosynostosis, Metatarsus adductus, Oxycephaly, Short 1st metacarpal, Short first metatarsal OMIM:201050
Temtamy Preaxial Brachydactyly Syndrome
Brachydactyly, Clinodactyly, Carpal synostosis, Short metacarpal, Microdontia, Deep philtrum, Sho... OMIM:605282
Camptobrachydactyly
Brachydactyly, Hand polydactyly, Short toe, Congenital finger flexion contractures, Syndactyly OMIM:114150
Atelosteogenesis, Type I
Vertebral hypoplasia, 11 pairs of ribs, Micrognathia, Narrow chest, Brachydactyly, Long clavicles... OMIM:108720
Dyggve-Melchior-Clausen Disease
Genu varum, Clinodactyly of the 5th finger, Broad palm, Rhizomelic arm shortening, Hypoplastic il... OMIM:223800
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Bilateral talipes equinovarus, Supernumerary ribs, Coxa valga, Osteoporosis, Finger clinodactyly ORPHA:2958
Spondylometaphyseal Dysplasia, Kozlowski Type
Carpal bone hypoplasia, Halberd-shaped pelvis, Delayed ossification of carpal bones, Irregular ca... OMIM:184252
Facial Clefting, Oblique, 1
Deep palmar crease, Cleft upper lip, Cleft palate OMIM:600251
Joubert Syndrome 17
Syndactyly, Ataxia, Polydactyly OMIM:614615
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Kyphosis, Abnorm... ORPHA:3344
Achondroplasia
Brachydactyly, Bowing of the legs, Trident hand, Knee joint hypermobility, Hip joint hypermobilit... ORPHA:15
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Abnormality of the ulna, Hypoplasia of the ulna, Fibular hypoplasia, ... ORPHA:2634
Brachydactyly, Type B1
Short long bone, Aplasia/Hypoplasia of the distal phalanges of the hand, Type B brachydactyly, Ap... OMIM:113000
Osteogenesis Imperfecta, Type V
Abnormality of pelvic girdle bone morphology, Vertebral wedging, Anterior radial head dislocation... OMIM:610967
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Short ribs, Lateral clavicle hook, Hypoplasia of the radius, Micr... OMIM:617895
Achondrogenesis
Short thorax, Abnormal enchondral ossification, Micrognathia, Micromelia, Narrow chest, Abnormali... ORPHA:932
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry, Delayed closure of the anterio... ORPHA:231140
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Hip dysplasia, Polydactyly ORPHA:531151
Hyperphosphatasia With Mental Retardation Syndrome 6
Clinodactyly, Shortening of all distal phalanges of the fingers, Osteopenia, Flexion contracture,... OMIM:616809
Apert Syndrome
Rhizomelic arm shortening, Cervical C5/C6 vertebrae fusion, Synostosis of carpal bones, Acrobrach... OMIM:101200
Frontal Encephalocele
Spina bifida, Encephalocele, Hydrocephalus ORPHA:1931
Van Den Ende-Gupta Syndrome
Craniosynostosis, Dislocated radial head, Slender metacarpals, Distal ulnar hypoplasia, Knee flex... OMIM:600920
X-Linked Intellectual Disability, Van Esch Type
Clinodactyly of the 5th finger, Coronal craniosynostosis ORPHA:163976
Bardet-Biedl Syndrome 19
Polydactyly OMIM:615996
Trichothiodystrophy 6, Nonphotosensitive
Coxa valga, Coronal craniosynostosis OMIM:616943
Melnick-Needles Syndrome
Bowing of the long bones, Coxa valga, Short thorax, Craniofacial hyperostosis, Cone-shaped epiphy... ORPHA:2484
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Abnormality of fibula morphology, Tibial bowing, Abnormal rib morpholog... ORPHA:3035
Diaphanospondylodysostosis
Missing ribs, Absent or minimally ossified vertebral bodies, Short thorax, Narrow pelvis bone, En... ORPHA:66637
X-Linked Hypophosphatemia
Genu varum, Upper limb metaphyseal widening, Flattening of the talar dome, Genu valgum, Rickets, ... ORPHA:89936
Joubert Syndrome 18
Joint laxity, Camptodactyly, Polydactyly OMIM:614815
Laron Syndrome
Limb undergrowth, Short long bone OMIM:262500
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate, Polydactyly OMIM:607361
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Micromelia, Ulnar deviation of finge... ORPHA:2928
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormality of the vertebral column, Palmoplantar keratoderma, Obesity, Abnormal pelvis bone morp... ORPHA:2206
White Forelock With Malformations
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal rib morphology, Sprengel anomaly, Spi... ORPHA:2475
Pyknoachondrogenesis
Abnormal intramembranous ossification, Horizontal ribs, Hypoplastic ischia, Short long bone, Shor... ORPHA:3003
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Hypoplastic iliac wing, Short toe, Hand monodactyly... OMIM:609945
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Absent radius, Absent tibia, Mirror image polydactyly, Aplasia... ORPHA:2378
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Increased bone mineral density, Femur fracture, Flared metaphysis, Osteomyeliti... OMIM:259700
Hemifacial Microsomia With Radial Defects
Non-midline cleft lip, Triphalangeal thumb, Oral cleft, Complete duplication of thumb phalanx, Cl... OMIM:141400
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Wide... OMIM:187600
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Brachydactyly, Flattened epiphysis, Thoracic kyphosis, Flexion contracture, Anterior rib cupping,... OMIM:300232
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Genu varum, Abnormal carpal morphology, Short thorax, Short palm, Hypop... ORPHA:85166
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Phocomelia, Absent radius, Fibular hypoplasia, Lateral clavicle... OMIM:171480
Gomez-Lopez-Hernandez Syndrome
Wormian bones, Skull asymmetry, Craniosynostosis, Midface retrusion, Turricephaly, Brachycephaly,... OMIM:601853
Autosomal Recessive Kenny-Caffey Syndrome
Thin long bone diaphyses, Thin ribs, Decreased skull ossification, Thin clavicles, Stenosis of th... ORPHA:93324
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Coxa valga, Broad femoral neck, Micrognathia, Thin bo... ORPHA:85184
Orofaciodigital Syndrome Xv
Lobulated tongue, Broad hallux, Postaxial polydactyly OMIM:617127
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Foot polydactyly, Postaxial hand polydactyly, Aganglionic megacolon ORPHA:2155
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Micrognathia, Neonatal death, Mesomelia, Syndactyly OMIM:228940
Sheldon-Hall Syndrome
Abnormal hip bone morphology, Short neck, Overlapping fingers, Micrognathia, Adducted thumb, Scol... ORPHA:1147
Poland Syndrome
Short ribs, Unilateral brachydactyly, Sprengel anomaly, Hypoplasia of deltoid muscle, Unilateral ... OMIM:173800
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Bowing of the legs, Premature osteoarthritis, Metaphyseal irregularity, Metaphyseal w... ORPHA:93352
Brachydactyly, Type E1
Brachydactyly, Short metacarpal, Type E brachydactyly, Short clavicles, Short metatarsal, Straigh... OMIM:113300
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Brachydactyly, High palate, Bowing of the long bones, Agenesis of permanent teeth, Fused teeth, S... OMIM:614091
Cranioectodermal Dysplasia 3
Brachydactyly, Dolichocephaly, Joint laxity, Sandal gap, Frontal bossing, Postaxial polydactyly, ... OMIM:614099
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal pelvis bone morphology, Broad femoral neck, Genu valgum, W... ORPHA:239
Osteoglophonic Dysplasia
Bowing of the long bones, Craniosynostosis, Short palm, Short metacarpal, Rhizomelia, Broad palm,... OMIM:166250
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Bilateral talipes equinovarus, Shortening of all phalanges of fingers, Limb undergrowth, Shorteni... OMIM:601356
Nievergelt Syndrome
Radioulnar synostosis, Tarsal synostosis, Talipes equinovarus, Genu valgum, Metatarsal synostosis... OMIM:163400
Meckel Syndrome, Type 5