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 vertebrae morphology Twist1em1(IMPC)Rbrc HET   Early adult 8.79×10-05
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
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 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
increased lean body mass Twist1em1(IMPC)Rbrc HET Early adult 8.73×10-07
decreased prepulse inhibition Twist1em1(IMPC)Rbrc HET Early adult 1.33×10-05
abnormal nail morphology Twist1em1(IMPC)Rbrc HET   Early adult 3.54×10-15

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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 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

X-ray

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
phenotypes
Matching phenotypes Source
Craniosynostosis 7
Craniosynostosis OMIM:617439
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Craniosynostosis 5, Susceptibility To
Craniosynostosis OMIM:615529
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Craniosynostosis, Philadelphia Type
Finger syndactyly, Craniosynostosis 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
Distal symphalangism of hands, 2-3 toe syndactyly, 3-4 finger syndactyly, Cutaneous syndactyly, S... OMIM:185900
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all middle phalanges of the fin... OMIM:600593
Aurocephalosyndactyly
Craniosynostosis, 4-5 toe syndactyly OMIM:109050
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb 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 polydactyly type A, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:618498
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Polydactyly, Preaxial I
Preaxial hand polydactyly, Radial deviation of thumb terminal phalanx, Partial duplication of thu... OMIM:174400
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Symphalangism, Distal
Distal symphalangism of hands, Absent dorsal skin creases over affected joints, Brachydactyly, Cr... OMIM:185700
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Syngnathia
Cleft palate OMIM:119550
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Craniosynostosis 3
Right unicoronal synostosis, Bicoronal synostosis, Single transverse palmar crease, Brachydactyly... OMIM:615314
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis OMIM:123155
Kleeblattschaedel
Cloverleaf skull, Elbow ankylosis, Craniosynostosis OMIM:148800
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Osseous Heteroplasia, Progressive
Ectopic ossification in muscle tissue, Ankylosis, Limb undergrowth OMIM:166350
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Craniosynostosis OMIM:614416
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia, Single transverse palmar crease OMIM:218550
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate, Finger aplasia OMIM:172880
Jackson-Weiss Syndrome
Short first metatarsal, 2-3 toe syndactyly, Calcaneonavicular fusion, Broad proximal phalanx of t... OMIM:123150
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1566
Craniosynostosis 1
Turricephaly, Right unicoronal synostosis, Prominent occiput, Biparietal narrowing, Frontal bossi... OMIM:123100
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Non-Syndromic Sagittal Craniosynostosis
Frontal bossing, Dolichocephaly, Prominent occiput ORPHA:35093
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Pierre Robin Sequence With Facial And Digital Anomalies
Clinodactyly of the 5th finger, Easily subluxated first metacarpophalangeal joints, Glossoptosis,... OMIM:311895
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Syndactyly Type 1
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... ORPHA:93402
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Holoprosencephaly, Semilobar, With Craniosynostosis
Coronal craniosynostosis, Short distal phalanx of finger, Lambdoidal craniosynostosis, Coxa valga OMIM:601370
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... OMIM:113100
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Frontal bossing, Toe syndactyly, Broa... ORPHA:380
Hunter-Mcalpine Craniosynostosis Syndrome
Craniosynostosis OMIM:601379
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Craniosynostosis ORPHA:2866
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Anal... OMIM:174200
Syndactyly-Polydactyly-Earlobe Syndrome
1-2 toe complete cutaneous syndactyly, Broad toe, Bifid distal phalanx of toe, Preaxial hand poly... OMIM:186350
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Lower limb undergrowth, Forearm undergrowth OMIM:218650
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Narrow chest, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly,... OMIM:611263
Scalp Defects And Postaxial Polydactyly
Postaxial polydactyly type A OMIM:181250
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Multiple Synostoses Syndrome 3
Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,... OMIM:612961
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Summitt Syndrome
Plagiocephaly, Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Finger syndacty... ORPHA:3210
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Brachycephaly, Craniosynostosis, Thickened calvaria, Increased bone mineral density ORPHA:178377
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
Carpenter Syndrome
Polydactyly, Turricephaly, Genu valgum, Finger syndactyly, Cloverleaf skull, Postaxial hand polyd... ORPHA:65759
Ectrodactyly-Polydactyly Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... ORPHA:1892
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ... OMIM:617642
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Acropectoral Syndrome
Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx OMIM:605967
Potocki-Shaffer syndrome
Parietal foramina, Delayed cranial suture closure DECIPHER:34
Hypochondroplasia
Limited elbow extension, Flared metaphysis, Short long bone, Trident hand, Frontal bossing, Short... OMIM:146000
Ectrodactyly-Polydactyly
Split foot, Split hand, Postaxial hand polydactyly OMIM:225290
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, O... OMIM:618167
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Frontal bossing, Dolichocephaly, Orbital craniosynostosis ORPHA:1538
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Abnormal hip bone morphology, Upper limb phocomelia, Syndactyly, Abnorma... ORPHA:294975
Craniosynostosis 2
Brachycephaly, Turricephaly, Triphalangeal thumb, Unicoronal synostosis, Bicoronal synostosis, Me... OMIM:604757
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Short 5th finger, Postaxial hand polydactyly, Short thumb, Short 2nd toe OMIM:176305
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, De... OMIM:617405
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... OMIM:608180
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Cleft palate, Foot oli... OMIM:183600
Sprengel Deformity
Abnormal shoulder morphology, Shoulder muscle hypoplasia, Cleft palate, Abnormality of the should... ORPHA:3181
Kyphomelic Dysplasia
Lateral clavicle hook, Abnormal metaphysis morphology, Narrow chest, Short thorax, Limitation of ... ORPHA:1801
Prognathism, Mandibular
Craniosynostosis OMIM:176700
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Polydactyly, Postaxial, With Progressive Myopia
Postaxial hand polydactyly OMIM:174310
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Glossoptosis, Abnormality of the ... ORPHA:3104
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Astley-Kendall Dysplasia
Micromelia, Epiphyseal stippling ORPHA:85175
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Disorganization, Mouse, Homolog Of
Cleft upper lip, Hand polydactyly, Cleft palate, Limb duplication, Hip dislocation OMIM:223200
Lethal Recessive Chondrodysplasia
Narrow chest, Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowt... ORPHA:1423
Greig Cephalopolysyndactyly Syndrome
Trigonocephaly, Broad thumb, Syndactyly, Craniosynostosis, Abnormal calvaria morphology, Postaxia... OMIM:175700
Split-Foot Malformation With Mesoaxial Polydactyly
Split hand, 4-5 toe syndactyly, Split foot, 1-2 toe syndactyly, Mesoaxial hand polydactyly OMIM:616890
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
16P13.11 Microduplication Syndrome
Arachnodactyly, Hand polydactyly, Dolichocephaly, Joint hypermobility, Craniosynostosis ORPHA:261243
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... OMIM:609052
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Greenberg Dysplasia
Abnormal bone ossification, Rhizomelia, Narrow chest, Abnormal pelvis bone ossification, Anterior... ORPHA:1426
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Abnormal rib morphology, Rad... ORPHA:3268
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Short 4th metacarpal, Abnormal shoulder morphology, Abnormality of ... ORPHA:1350
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Cleft palate, Bowing... OMIM:249710
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Genu valgum, Irregular epiphyses of the metacarpals, Hitchhiker thumb, S... OMIM:614078
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cleft palate, Abnormal hand morphology, Short foot, Small hand OMIM:300261
Pseudoachondroplasia
Short long bone, Flat acetabular roof, Hypoplastic pelvis, Joint stiffness, Metaphyseal irregular... ORPHA:750
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ... ORPHA:93351
Holzgreve Syndrome
Cleft upper lip, Hand polydactyly, Cleft palate OMIM:236110
Spondylometaphyseal Dysplasia, A4 Type
Limitation of joint mobility, Micromelia, Coxa vara, Flared, irregular rib ends, Short palm ORPHA:168555
Split-Foot Deformity With Mandibulofacial Dysostosis
Split foot, Toe syndactyly, Cleft palate, Split hand OMIM:183700
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis ORPHA:88643
Trigonocephaly With Short Stature And Developmental Delay
Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Trigonocephaly, Small anterior fonta... OMIM:314320
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Cleft palate, Toe syndac... DECIPHER:46
Hypophosphatasia, Childhood
Frontal bossing, Dolichocephaly, Bowing of the legs, Craniosynostosis OMIM:241510
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th... ORPHA:488232
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Jawad Syndrome
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... OMIM:251255
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... ORPHA:2790
Cranioectodermal Dysplasia
Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo... ORPHA:1515
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Craniosynostosis OMIM:612247
Lowry-Maclean Syndrome
Craniosynostosis OMIM:600252
Muenke Syndrome
Brachycephaly, Plagiocephaly, Radial deviation of finger, Cone-shaped epiphyses of the phalanges ... OMIM:602849
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Frontal bossing, Short distal phalanx of finger, Brachydactyly, Wormian bones, Join... ORPHA:2787
Jeune Syndrome
Abnormal clavicle morphology, Abnormal metaphysis morphology, Narrow chest, Short thorax, Abnorma... ORPHA:474
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho... ORPHA:2779
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Micrognathia, Mesomelia, Brachydactyly, Long thorax ORPHA:1277
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Multiple suture craniosynostosis, Trigonocephaly, Small anterior fontanelle, Metopic suture paten... ORPHA:3369
Boomerang Dysplasia
Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca... ORPHA:1263
Robinow-Sorauf Syndrome
Plagiocephaly, Broad thumb, Broad hallux, Pansynostosis, Craniosynostosis, Hallux valgus, Duplica... OMIM:180750
Thoracomelic Dysplasia
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... ORPHA:1803
Metatropic Dysplasia
Abnormal metaphysis morphology, Abnormal cortical bone morphology, Clinodactyly of the 5th finger... ORPHA:2635
Spondyloepiphyseal Dysplasia, Kimberley Type
Short thorax, Osteoarthritis, Abnormal epiphysis morphology, Micromelia ORPHA:93283
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Arthropathy, Clubbing, Craniosynostosis, Hip dislocation, Scaphocephaly, Joint contracture of the... OMIM:618523
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius, Cleft upper lip, Cleft palate OMIM:179400
Craniosynostosis 6
Brachycephaly, Plagiocephaly, Turricephaly, Bicoronal synostosis, Parietal foramina, Right unilam... OMIM:616602
Curry-Jones Syndrome
Finger syndactyly, Broad thumb, Foot polydactyly, Toe syndactyly, Abnormality of thumb phalanx, P... ORPHA:1553
Metatropic Dysplasia
Narrow greater sciatic notch, Relatively short spine, Short ribs, Long coccyx, Cupped ribs, Flare... OMIM:156530
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Pfeiffer Syndrome Type 1
Brachycephaly, Aplasia/Hypoplasia of the thumb, Bicoronal synostosis, Short hallux, Finger syndac... ORPHA:93258
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Narrow mouth, Postaxial polydactyly, Clinodactyly OMIM:615984
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Genu valgum, Ulnar deviated club hands, Arthralgia of ... ORPHA:166002
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Abnormality of the vertebral column, Cone-shaped epiphyses of the phalang... OMIM:250460
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Sandal gap, Short philtrum, Single transverse palmar crease, P... OMIM:617927
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Cubitus valgus, Du... ORPHA:1836
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Eiken Syndrome
Metaphyseal irregularity, Abnormal bone ossification, Fibular hypoplasia, Cubitus valgus, Delayed... ORPHA:79106
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Single transverse palmar crease, Absent ... OMIM:176240
Chondrodysplasia, Blomstrand Type
Stillbirth, Narrow chest, Flared metaphysis, Squared iliac bones, Short ribs, Micromelia, Microgn... OMIM:215045
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Hip dysplasia, Coxa vara, Broad ... ORPHA:2114
Autosomal Recessive Omodysplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Rhizomelia, Pterygium, Micromelia, Fro... ORPHA:93329
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Pectus excavatum, Limb undergrowth, Thoracic hypoplasia, Bowing of the legs ORPHA:156728
Ophthalmomandibulomelic Dysplasia
Ulnar deviated club hands, Abnormality of bone mineral density, Limitation of joint mobility, Syn... ORPHA:2741
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis ORPHA:718
Craniofrontonasal Dysplasia
Brachycephaly, Plagiocephaly, Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly, Fron... ORPHA:1520
Acrocapitofemoral Dysplasia
Narrow chest, Short thorax, Pectus carinatum, Pectus excavatum, Flared iliac wing, Coxa vara, Abn... ORPHA:63446
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... ORPHA:2639
Triphalangeal Thumbs With Brachyectrodactyly
Triphalangeal thumb, Short 2nd finger, Split hand, Split foot, Brachydactyly, Short 3rd toe OMIM:190680
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Cleft Palate, Isolated
Anterior open-bite malocclusion, Gingival overgrowth, Cleft palate, Increased overbite OMIM:119540
Van Der Woude Syndrome 1
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit OMIM:119300
Acropectorovertebral Dysplasia
High, narrow palate, Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of car... ORPHA:957
Metaphyseal Anadysplasia 2
Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg... OMIM:613073
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Adducted Thumbs Syndrome
Craniosynostosis, Arthrogryposis multiplex congenita OMIM:201550
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Abnormality of the hand, Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, A... OMIM:609324
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Slender long bone, Trigonocephaly, Decreased calvarial ossification, Brachydactyly... OMIM:618265
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short ribs, Short long bone, Flat acetabular roof, Dumbbell-shaped long bone, Hypoplastic ischia,... OMIM:151210
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Preaxial foot polydactyly, Postaxial hand polydactyly ORPHA:2091
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Oligodactyly, Ectrodactyly, Abnormal metacarpal morphology ORPHA:2730
Congenital Disorder Of Glycosylation, Type Iin
Joint hypermobility, Craniosynostosis, Osteopenia OMIM:616721
Craniodiaphyseal Dysplasia
Diaphyseal undertubulation, Abnormal rib morphology, Craniofacial hyperostosis ORPHA:1513
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ... OMIM:615633
Arthrogryposis, Distal, Type 1C
Rocker bottom foot, Thin vermilion border, Clinodactyly of the 5th finger, Shoulder flexion contr... OMIM:619110
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Craniosynostosis, Herrmann-Opitz Type
Brachycephaly, Turricephaly, Finger syndactyly, Split hand, Micromelia, Brachydactyly, Craniosyno... ORPHA:2145
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, Bowing of t... ORPHA:2632
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Cutis Laxa, Autosomal Recessive, Type Iie
Copper beaten skull, Deep palmar crease, Clinodactyly of the 5th finger, Syndactyly, Brachydactyl... OMIM:619451
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short toe, Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology OMIM:259270
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Joint hypermobility, Craniosynostosis OMIM:618906
Achondrogenesis Type 2
Abnormal bone ossification, Delayed pubic bone ossification, Narrow chest, Short ribs, Short long... ORPHA:93296
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Death in childhood, Narrow chest, Short ribs, Short long bone, Coarse metaphyseal trabecularizati... OMIM:618961
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Schneckenbecken Dysplasia
Lateral clavicle hook, Stillbirth, Narrow chest, Snail-like ilia, Short ribs, Short long bone, Fl... OMIM:269250
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... OMIM:605289
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Hypoplasia of the radius, Tarsal synostosis, Fibular hypopl... OMIM:112910
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car... OMIM:607778
Orofaciodigital Syndrome Viii
Polydactyly, High palate, Cleft palate, Syndactyly, Short tibia, Median cleft upper lip OMIM:300484
Craniotelencephalic Dysplasia
Craniosynostosis, Frontal bossing ORPHA:1528
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Narrow chest, Mesomelic/rhizomelic limb shortening, Abnormal rib ... ORPHA:1354
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Limb undergrowth, Abnormal cortical bone morphology, Abnormal lim... ORPHA:2204
Craniotelencephalic Dysplasia
Craniosynostosis OMIM:218670
Orofaciodigital Syndrome Iv
Short finger, Hamartoma of tongue, Tongue nodules, High palate, Foot polydactyly, Postaxial polyd... OMIM:258860
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Craniosynostosis, Frontal bossing, Dolichocephaly, Clinodactyly of the 5th finger ORPHA:1516
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti... OMIM:271650
Muenke Syndrome
Brachycephaly, Plagiocephaly, Tarsal synostosis, Short foot, Coronal craniosynostosis, Short palm... ORPHA:53271
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Cleft palate OMIM:612913
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Brachycephaly, Lambdoidal craniosynostosis, Bicoronal synostosis, Flat occiput, Delayed closure o... OMIM:618736
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Slender finger, Hypoplasia of the odontoid process,... OMIM:609813
Gordon Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, High palate, Camptodactyly of finger, Cleft pa... ORPHA:376
Atelosteogenesis, Type Ii
Sandal gap, Short greater sciatic notch, Bifid humerus, Increased intervertebral space, Scoliosis... OMIM:256050
Odontochondrodysplasia 1
Irregular epiphyses, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand, Small epip... OMIM:184260
2q33.1 deletion syndrome
Cleft palate, High palate DECIPHER:51
Thanatophoric Dysplasia, Type Ii
Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costochondral junctions... OMIM:187601
Hartsfield Syndrome
Craniosynostosis, Split hand, Aplasia/Hypoplasia of the radius ORPHA:2117
Hypophosphatasia
Abnormal metaphysis morphology, Large fontanelles, Bowing of the long bones, Craniosynostosis, Re... ORPHA:436
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Cleft palate, Deep palmar crease OMIM:600251
Craniosynostosis 4
Lambdoidal craniosynostosis, Bicoronal synostosis, Coronal craniosynostosis, Pansynostosis, Metop... OMIM:600775
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Thin ribs, Hypoplasia ... OMIM:300863
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Death in childhood, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Elbow flexion... OMIM:616809
Hypochondroplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormality of the elbow, Abnormal pel... ORPHA:429
Coxoauricular Syndrome
Reduced bone mineral density, Abnormal femur morphology, Abnormal pelvic girdle bone morphology, ... ORPHA:1508
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Cleft palate, Ankyloglossia OMIM:303400
Split-Hand/Foot Malformation 6
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly OMIM:225300
Diastrophic Dysplasia
Abnormal clavicle morphology, Short finger, Abnormal metaphysis morphology, Proximal placement of... ORPHA:628
Achondrogenesis, Type Ia
Hypoplastic sacrum, Broad clavicles, Abnormal hand bone ossification, Short ribs, Decreased skull... OMIM:200600
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Bell-shaped thorax, Crumpled long bones, Thin ribs, Tibial bowin... OMIM:166210
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Brachycephaly, Frontal bossing, Craniosynostosis ORPHA:314575
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Sandal gap, Short hallux, Agenesis of permanent teeth, Oligodontia of primary ... OMIM:216300
Ulnar Hypoplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis... OMIM:191440
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Abnormal metaphysis morphology, Rhizomelia, Proximal placement of t... ORPHA:93267
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Abnormal hip bone morphology, Abnormal met... ORPHA:2631
Trigonocephaly 1
Trigonocephaly, Craniosynostosis, Metopic synostosis OMIM:190440
Enlarged Parietal Foramina
Broad thumb, Parietal foramina, Short clavicles, Craniosynostosis ORPHA:60015
Coloboma Of Macula And Skeletal Anomalies
Genu valgum, Contracture of the distal interphalangeal joint of the 5th finger, Cleft palate, Hal... OMIM:216800
Grant Syndrome
Abnormal cortical bone morphology, Narrow chest, Decreased skull ossification, Abnormal rib morph... ORPHA:2097
Choanal Atresia
Polydactyly, Craniosynostosis, Tracheomalacia ORPHA:137914
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Stillbirth, Narrow chest, Short ribs, Hypoplastic ... OMIM:600972
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Coxa valga, Me... OMIM:164900
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Craniosynostosis, Epiphyseal dysplasia, Metaphyseal dysplasia OMIM:614732
Acrorenal Syndrome
Abnormal tibia morphology, Split hand, Cleft palate, Abnormal morphology of ulna, Aplasia/Hypopla... ORPHA:971
Aase-Smith Syndrome
Abnormal hip bone morphology, Scoliosis, Slender finger, Camptodactyly of finger, Aplasia/Hypopla... ORPHA:916
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... ORPHA:1802
Scalp Defects-Postaxial Polydactyly Syndrome
Postaxial polydactyly type A, Calvarial skull defect ORPHA:1003
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Bardet-Biedl Syndrome 4
Polydactyly, Abnormality of the dentition, Syndactyly, Brachydactyly OMIM:615982
Holoprosencephaly-Craniosynostosis Syndrome
Brachycephaly, Plagiocephaly, Clinodactyly of the 5th finger, Brachydactyly, Short distal phalanx... ORPHA:2163
Pfeiffer Syndrome
3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Cloverleaf skull... OMIM:101600
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis, Death in adolescence, Cranio... OMIM:122860
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Ulnar deviation of the wrist, Unilambdoid synostosis, Clinodactyly OMIM:618577
Osteogenesis Imperfecta, Type Ix
Pectus carinatum, Pectus excavatum, Decreased calvarial ossification, Multiple prenatal fractures... OMIM:259440
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Joint stiffness, Sprengel anomaly, Brachydactyly, Joint hypermobility, ... ORPHA:40
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa... OMIM:102510
Grant Syndrome
Wormian bones, Tibial bowing, Down-sloping shoulders OMIM:138930
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli... ORPHA:240
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Antley-Bixler Syndrome
Brachycephaly, Turricephaly, Delayed cranial suture closure, Femoral bowing, Joint stiffness, Fro... ORPHA:83
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, A... ORPHA:2370
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Brachycephaly, Large fontanelles, Turricephaly, Bowing of the long bones, Short palm, Toe syndact... ORPHA:171839
Cardiocranial Syndrome, Pfeiffer Type
Deep palmar crease, Plantar flexion contracture, Slender finger, Dolichocephaly, Cutaneous syndac... ORPHA:2872
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Micromelia, Joint stiffness, Metatarsus adductu... ORPHA:2249
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Abnormal bone structure, Camptodactyly... OMIM:300244
Bent Bone Dysplasia Syndrome 1
Hypoplastic pubic bone, Short clavicles, Coronal craniosynostosis, Decreased calvarial ossificati... OMIM:614592
Limb-Mammary Syndrome
Split hand, Camptodactyly, Split foot, Bifid uvula, Cleft palate, Syndactyly, Hypodontia, Hallux ... OMIM:603543
Pseudoachondroplasia
Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Join... OMIM:177170
Stuve-Wiedemann Syndrome 2
Stillbirth, Short long bone, Bowing of the long bones, Camptodactyly, Death in adolescence, Neona... OMIM:619751
Polydactyly, Postaxial, Type A6
Abnormal dental morphology, Broad phalanges of the 5th finger, Postaxial foot polydactyly, Postax... OMIM:615226
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Achondrogenesis Type 1B
Narrow chest, Short thorax, Abnormal rib morphology, Abnormal enchondral ossification, Micromelia... ORPHA:93298
Spondyloepimetaphyseal Dysplasia, Shohat Type
Narrow greater sciatic notch, Bell-shaped thorax, Delayed epiphyseal ossification, Flared metaphy... OMIM:602557
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Micrognathia,... OMIM:602196
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc... OMIM:602418
Acrocephalopolydactyly
Short long bone, Limb undergrowth, Thoracic hypoplasia, Brachydactyly ORPHA:221054
Macrocephaly-Developmental Delay Syndrome
Craniosynostosis, Frontal bossing, Clinodactyly of the 5th finger, Scaphocephaly ORPHA:397612
Odontochondrodysplasia
Abnormal metaphysis morphology, Square pelvis bone, Narrow chest, Bowing of the long bones, Micro... ORPHA:166272
Bardet-Biedl Syndrome 8
Brachycephaly, Postaxial polydactyly OMIM:615985
Holt-Oram Syndrome
Abnormal clavicle morphology, Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndact... ORPHA:392
Larsen Syndrome
Broad distal phalanx of finger, Large joint dislocations, Finger syndactyly, Laryngotracheomalaci... ORPHA:503
Tetramelic Monodactyly
Split foot, Foot monodactyly, Split hand, Hand monodactyly OMIM:187510
Achondrogenesis Type 1A
Narrow chest, Short thorax, Recurrent fractures, Short foot, Abnormal enchondral ossification, Mi... ORPHA:93299
Orofaciodigital Syndrome Xvii
Polydactyly, Clubbing of fingers, Central Y-shaped metacarpal, Prominent metopic ridge, Partial d... OMIM:617926
Atelosteogenesis Type Ii
Sandal gap, Tracheobronchomalacia, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shap... ORPHA:56304
Rhizomelic Chondrodysplasia Punctata
Abnormal metaphysis morphology, Rhizomelia, Spina bifida occulta, Epiphyseal stippling, Limitatio... ORPHA:177
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Abnormal carpal morphol... OMIM:127300
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Brachycephaly, Rocker bottom foot, Lambdoidal craniosynostosis, Ulnar bowing, Wide anterior fonta... OMIM:207410
Cole-Carpenter Syndrome 1
Osteopenia, Reduced bone mineral density, Coronal craniosynostosis, Frontal bossing, Orbital cran... OMIM:112240
Carpenter Syndrome 1
Flared iliac wing, Duplication of the proximal phalanx of the hallux, Coxa valga, Genu varum, Pos... OMIM:201000
Acromesomelic Dysplasia, Hunter-Thompson Type
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Cu... ORPHA:968
Greenberg Dysplasia
Short ribs, Short long bone, Decreased skull ossification, Short metacarpal, Multiple prenatal fr... OMIM:215140
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Small epiphyses, Femoral bowing, Sho... OMIM:616723
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Cup... OMIM:614524
Cole-Carpenter Syndrome 2
Osteopenia, Turricephaly, Lambdoidal craniosynostosis, Narrow iliac wing, Coronal craniosynostosi... OMIM:616294
Osteoglosphonic Dysplasia
Craniosynostosis, Abnormal bone ossification, Rhizomelia, Brachydactyly ORPHA:2645
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Cleft soft pa... ORPHA:2756
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Long toe, Arachnodactyly, Large hands, Cleft palate, Cleft lip OMIM:300263
Sillence Syndrome
Flat acetabular roof, Large iliac wing, Broad metatarsal, Broad thumb, Abnormal morphology of the... ORPHA:3168
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Bilateral coxa valga, Abnormal vertebral morphology, Abnormal ilium morphology ORPHA:163665
Multiple Synostoses Syndrome 4
Overlapping toe, Tarsal synostosis, Otosclerosis, Brachydactyly OMIM:617898
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Sandal gap, Narrow chest, Short thorax, Cone-shaped epiphyses of the phalanges ... OMIM:617102
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2-3 toe syndactyly, Short ri... OMIM:617866
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Short metacarpal, Prominent ca... ORPHA:457395
Joubert Syndrome 20
Postaxial polydactyly, Inability to walk, 4-5 toe syndactyly OMIM:614970
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Rhizomelia, Narrow chest, Angulated humerus, Short long bone, Bowing of the long bone... OMIM:616229
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared m... OMIM:602111
Orofaciodigital Syndrome X
Fibular aplasia, Finger aplasia, Cleft palate, Preaxial hand polydactyly, Coalescence of tarsal b... OMIM:165590
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Ab... ORPHA:970
Cranioectodermal Dysplasia 4
Broad distal phalanx of finger, Broad phalanx of the toes, Frontal bossing, Short distal phalanx ... OMIM:614378
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Polysyndactyly of hallux, Preaxial foot polydactyly OMIM:235750
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... OMIM:184250
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Short ribs, Short long bone, Cupped ribs, Metaphyseal irregularity, Joint hypermobility, Genu var... OMIM:250420
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Limitation of... ORPHA:1486
Corpus Callosum Agenesis-Neuronopathy Syndrome
Craniosynostosis, Turricephaly ORPHA:1496
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... ORPHA:888
Cdags Syndrome
Brachycephaly, Large fontanelles, Lambdoidal craniosynostosis, Parietal foramina, Delayed cranial... OMIM:603116
Achondroplasia
Limited elbow extension, Narrow greater sciatic notch, Short proximal phalanx of finger, Rhizomel... ORPHA:15
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Kyphosis, Fla... ORPHA:93314
Congenital Factor X Deficiency
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... ORPHA:328
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, High palate, ... OMIM:147891
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, 11 pairs of ribs, Prenatal death, Camptodactyly, Micrognathia, Neonatal death... OMIM:618393
Cleidocranial Dysplasia 2
Osteopenia, Genu valgum, Delayed pubic bone ossification, Wide anterior fontanel, Delayed ossific... OMIM:620099
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Hypoplastic iliac wing, Short ribs, Irregular chondrocostal junctions, Hypopl... OMIM:187760
Acrocraniofacial Dysostosis
Turricephaly, Genu valgum, Abnormal hip bone morphology, Short 1st metacarpal, Triphalangeal thum... ORPHA:949
X-Linked Intellectual Disability, Cilliers Type
Coronal craniosynostosis, Clinodactyly of the 5th finger, Small hand ORPHA:163971
Progressive Pseudorheumatoid Arthropathy Of Childhood
Wrist swelling, Hyperlordosis, Broad femoral neck, Abnormality of hand joint mobility, Genu varum... ORPHA:1159
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Ruvalcaba Syndrome
Limited elbow extension, Short metatarsal, Narrow chest, Short metacarpal, Micromelia, Short palm... OMIM:180870
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda... OMIM:135750
Otopalatodigital Syndrome Type 1
Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Short hallux, Oligodonti... ORPHA:90650
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Brachydactyly, Short long bone, Narrow chest OMIM:613819
Atelosteogenesis, Type I
Clubbing, Tibial bowing, Short metacarpal, Short humerus, Thoracic hypoplasia, Fibular aplasia, L... OMIM:108720
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Narro... ORPHA:66637
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Hypoplastic ilia, Micr... OMIM:617895
9Q21.13 Microdeletion Syndrome
Polydactyly, Craniosynostosis, Hip dysplasia ORPHA:531151
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis, Bilateral talipes equinovarus, Supernumerary ribs, Finger clinodactyly, Coxa valga ORPHA:2958
Bone Dysplasia, Lethal Holmgren Type
Abnormal thumb morphology, Abnormality of the hand, Abnormal femur morphology, Abnormal diaphysis... ORPHA:1842
Camptobrachydactyly
Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly OMIM:114150
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Osteogenesis Imperfecta, Type X
Osteopenia, Genu valgum, Fibular bowing, Rhizomelia, Narrow chest, Death in childhood, Thin ribs,... OMIM:613848
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Narrow chest, Femoral bowing, Dumbbell-shaped long bone, Micromelia, Micrognathia, Me... ORPHA:440354
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Delayed pubic bone ossific... ORPHA:1856
Spondylometaphyseal Dysplasia, Axial
Narrow greater sciatic notch, Rhizomelia, Narrow chest, Coxa vara, Anterior rib cupping, Thoracic... OMIM:602271
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Metopic depression, Short clavicles, Steep acetabular roof, Hypoplastic ischia, Coron... ORPHA:313855
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Enlargement of the costochondral junction, Fibular bowing, Delayed epiphyseal ossificati... OMIM:600081
Achondrogenesis, Type Ii
Short tubular bones of the hand, Stillbirth, Barrel-shaped chest, Hypoplastic iliac wing, Short r... OMIM:200610
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in childhood, Bell-shaped thorax, Narrow chest, Delayed epiphyseal ossification, Metaphysea... OMIM:613320
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica... ORPHA:2484
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Microdontia, Talon cusp,... OMIM:605282
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Tibial bowing, Bowing of the long bones, Abnormally ossified vertebra... ORPHA:3035
X-Linked Intellectual Disability, Van Esch Type
Coronal craniosynostosis, Clinodactyly of the 5th finger ORPHA:163976
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic... OMIM:228520
Hydrolethalus Syndrome 2
Cleft palate, Postaxial hand polydactyly, Preaxial foot polydactyly, Postaxial foot polydactyly OMIM:614120
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Micromelia OMIM:273680
Spondylometaphyseal Dysplasia, Kozlowski Type
Narrow greater sciatic notch, Carpal bone hypoplasia, Cone-shaped epiphyses of the phalanges of t... OMIM:184252
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Orofacial cleft, Triphalangeal thumb, Non-midline cleft of the upper lip, ... OMIM:141400
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Upper limb asymmetry, Clinodactyly of the 5th finger, Delayed closure of the anterio... ORPHA:231140
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Meckel Syndrome, Type 3
Polydactyly, Cleft palate, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:607361
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Short finger, Irregular epiphyses, Barrel-shaped chest, Rhizomelia, Broad thumb, Metaphyseal wide... OMIM:612813
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Bilateral talipes equinovarus, Limb joint contracture, Knee flexion co... ORPHA:284417
Apert Syndrome
Limited elbow movement, Brachyturricephaly, Broad thumb, Syndactyly, Craniosynostosis, Postaxial ... OMIM:101200
Spondyloepimetaphyseal Dysplasia, Shohat Type
Fibular overgrowth, Generalized bone demineralization, Delayed epiphyseal ossification, Flared me... ORPHA:93352
Joubert Syndrome 17
Postaxial polydactyly, Preaxial polydactyly, Ataxia, 3-4 finger syndactyly OMIM:614615
Curry-Jones Syndrome
Unicoronal synostosis, Bicoronal synostosis, Triphalangeal hallux, Broad thumb, Duplication of th... OMIM:601707
Achondrogenesis
Narrow chest, Short thorax, Abnormality of bone mineral density, Abnormal enchondral ossification... ORPHA:932
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, 2-3 toe syndactyly, Postaxial polydactyly, Frontal bossing, Dolichocephal... OMIM:614099
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
X-Linked Hypophosphatemia
Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,... ORPHA:89936
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Abnormal pelvic girdle bone morphology, Micromelia, Camptodactyly of finger, Brachydactyly, Ulnar... ORPHA:2928
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Narrow chest, Short thorax, Metaphyseal cupping, Bowing of the long b... ORPHA:85166
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Brachycephaly, Plagiocephaly, Genu valgum, Clinodactyly of the 5th finger, Prominent fingertip pa... OMIM:619721
Autosomal Recessive Kenny-Caffey Syndrome
Thin clavicles, Calvarial osteosclerosis, Thin ribs, Decreased skull ossification, Thin long bone... ORPHA:93324
Pyknoachondrogenesis
Short iliac bones, Craniofacial hyperostosis, Short thorax, Abnormal iliac wing morphology, Short... ORPHA:3003
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Bilateral talipes equinovarus, Mesomelia, Limb undergrowth, Shortening of... OMIM:601356
Nievergelt Syndrome
Tarsal synostosis, Genu valgum, Metatarsus adductus, Mesomelia, Radioulnar synostosis, Metatarsal... OMIM:163400
White Forelock With Malformations
Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Abnormal rib morphology,... ORPHA:2475
Otospondylomegaepiphyseal Dysplasia
Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Abnormal il... ORPHA:1427
Osteogenesis Imperfecta, Type V
Anterior radial head dislocation, Vertebral wedging, Hyperextensibility of the finger joints, Abn... OMIM:610967
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho... ORPHA:2378
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Craniosynostosis, Flexion contracture OMIM:619076
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Popliteal pterygium, Tarsal synostosis, Multiple pterygia, Elbow flexion contracture, Camptodacty... OMIM:178110
Microcephaly, Short Stature, And Limb Abnormalities
Hypoplasia of the radius, Clinodactyly of the 5th finger, 11 pairs of ribs, Patellar hypoplasia, ... OMIM:617604
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow greater sciatic notch, Narrow chest, Short ribs, Limitation of joint mobility, Short long ... OMIM:224400
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Foot polydactyly, Aganglionic megacolon, Postaxial hand polydactyly ORPHA:2155
Laron Syndrome
Short long bone, Limb undergrowth OMIM:262500
Brachydactyly, Type E1
Type E brachydactyly, Short metatarsal, Straight clavicles, Short clavicles, Short metacarpal, Br... OMIM:113300
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Short tubular bones of the hand, Abnormal diaphysis morphology, Increased bone minera... ORPHA:85184
Trichothiodystrophy 6, Nonphotosensitive
Increased bone mineral density, Coxa valga, Coronal craniosynostosis OMIM:616943
Poland Syndrome
Hypoplasia of deltoid muscle, Short ribs, Sprengel anomaly, Unilateral oligodactyly, Syndactyly, ... OMIM:173800
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Flared metaphysis, Increased bone minera... OMIM:259700
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Short uvula, Short lingual frenulum, Short long bone, Flat acetabular roof, Bowing o... OMIM:614091
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand, Ataxia OMIM:245800
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis OMIM:241310
Chromosome 5P13 Duplication Syndrome
Brachycephaly, Turricephaly, Single transverse palmar crease, Frontal bossing, Long fingers, Larg... OMIM:613174
Gomez-Lopez-Hernandez Syndrome
Brachycephaly, Turricephaly, Wide anterior fontanel, Wormian bones, Craniosynostosis, Skull asymm... OMIM:601853
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Becker Nevus Syndrome
Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Pectus excavatum, Micromelia, ... ORPHA:64755
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Micromelia, Decreased calvarial ossification, Joint hypermobility, Recur... ORPHA:2772
Parenti-Mignot Neurodevelopmental Syndrome
Craniosynostosis, Frontal bossing OMIM:619873
Ulna Metaphyseal Dysplasia Syndrome
Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal metacarpal morphology, Abnor... ORPHA:1837
Joubert Syndrome 27
Polydactyly, Ataxia, Gait ataxia OMIM:617120
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Abnormality of the wrist, Cleft palate, Oligodontia of primary teeth, Carpal s... ORPHA:2010
Joubert Syndrome 15
Exencephaly OMIM:614464
Fibrochondrogenesis
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ... ORPHA:2021
Hypophosphatasia, Infantile
Unossified vertebral bodies, Metaphyseal cupping, Micromelia, Decreased calvarial ossification, S... OMIM:241500
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing OMIM:156232
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Pectus carin... OMIM:620663
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow chest, Clubbing of fingers, Hypoplastic pubic bone, Miscarriage, Short long bone, Short ri... ORPHA:1865
Mesomelia-Synostoses Syndrome
Abnormality of the hand, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpa... ORPHA:2496
Al-Gazali-Bakalinova Syndrome
Polydactyly, Genu valgum, Pectus carinatum, Tapered finger, Pectus excavatum, Epiphyseal dysplasi... OMIM:607131
8Q22.1 Microdeletion Syndrome
Sandal gap, Finger syndactyly, Limitation of joint mobility, Camptodactyly of finger, Craniosynos... ORPHA:178303
Frontoocular Syndrome
Trigonocephaly, Coronal craniosynostosis OMIM:605321
Campomelia, Cumming Type
Abnormally ossified vertebrae, Abnormal rib morphology, Bowing of the long bones, Micromelia, Dea... ORPHA:1318
Juberg-Hayward Syndrome
Hypoplasia of the radius, Abnormality of the wrist, Abnormal metacarpal morphology, Hammertoe, Ab... ORPHA:2319
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Genu valgum, Cubitus valgus, Metaphyseal striations, Slender long bones with narrow d... OMIM:608154
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Pectus carinatum, Abnormal femoral head morphology, Short long bone... ORPHA:239
Cardioacrofacial Dysplasia 1
Genu valgum, Short philtrum, Conical tooth, Postaxial polydactyly, Limb undergrowth, Accessory or... OMIM:619142
Kenny-Caffey Syndrome, Type 1
Long clavicles, Thin clavicles, Calvarial osteosclerosis, Slender long bone, Thin ribs, Decreased... OMIM:244460
Atelosteogenesis Type I
Absent or minimally ossified vertebral bodies, Abnormal fibula morphology, Rhizomelia, Narrow che... ORPHA:1190
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Rhizomelia, Barrel-shaped chest, Broad thumb, Mesomelia, Brachydactyly, Joint hypermobility ORPHA:171866
Pfeiffer Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Mandibular prognathia, Hyperlordosis, Synostos... ORPHA:710
Bardet-Biedl Syndrome 22
Polydactyly, Postaxial foot polydactyly OMIM:617119
Tibial Aplasia-Ectrodactyly Syndrome
Popliteal pterygium, Fibular hypoplasia, Abnormal fibula morphology, Abnormal femur morphology, F... ORPHA:3329
Frontometaphyseal Dysplasia
Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Wrist flexion contra... ORPHA:1826
Femoral-Facial Syndrome
Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Coxa... ORPHA:1988
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal bone ossification, Generalized bone demineralization, Abnormal diaphysis morphology, Nar... ORPHA:73230
Say Syndrome
Short distal phalanx of finger, Cleft palate, Tapered finger, Ulnar deviation of the 3rd finger OMIM:181180
Orofaciodigital Syndrome Ii
Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Flared metaphysis, Postaxial han... OMIM:252100
Joubert Syndrome 18
Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Cleft palate, Lobulated tongue, T... OMIM:614815
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Short long bone, Thoracic hypoplasia, Metaphyseal irregularity, Joint hypermobili... OMIM:618019
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Lateral clavicle hook, Preaxial polydactyly, Narrow chest, Femoral bowing, Short ribs, Short long... OMIM:615503
Microcephaly-Micromelia Syndrome
Oligodactyly, Forearm undergrowth, Micromelia, Humeroradial synostosis, Absent thumb, Absent radi... OMIM:251230
Crane-Heise Syndrome
Finger syndactyly, Decreased skull ossification, Abnormally ossified vertebrae, Joint stiffness, ... ORPHA:1512
Microphthalmia, Syndromic 8
Orofacial cleft, Split foot, Cleft upper lip, Cleft palate, Widely-spaced maxillary central incisors OMIM:601349
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... ORPHA:2919
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Osteogenesis Imperfecta, Type Xxi
Bell-shaped thorax, Barrel-shaped chest, Pectus excavatum, Osteoporosis, Coxa vara, Bowing of the... OMIM:619131
Meckel Syndrome, Type 5
Postaxial hand polydactyly, Bowing of the long bones, Cleft upper lip, Cleft palate, Postaxial fo... OMIM:611561
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Short humerus, Abno... ORPHA:2491
Split-Hand/Foot Malformation 3
Narrow mouth, High palate, Split hand, Camptodactyly, Cleft palate OMIM:246560
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Flared metaphysis, Short ribs, Decreased skull ossification, Multiple prenatal fractu... OMIM:616897
1P31P32 Microdeletion Syndrome
Frontal bossing, Craniosynostosis ORPHA:401986
3Q29 Microduplication Syndrome
Large fontanelles, Sandal gap, Biparietal narrowing, Camptodactyly of toe, Toe syndactyly, Cranio... ORPHA:251038
Sheldon-Hall Syndrome
Bilateral single transverse palmar creases, Adducted thumb, Tarsal synostosis, Abnormal hip bone ... ORPHA:1147
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia