Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Twist1 MGI:98872

Gene Summary

Name:

twist basic helix-loop-helix transcription factor 1

Synonyms:

pdt, charlie chaplin, Ska^m10Jus, bHLHa38, M-Twist, Pluridigite, Ska10

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
increased lean body mass	Twist1^{em1(IMPC)Rbrc}	HET	Early adult	8.73×10^-07
decreased total body fat amount	Twist1^{em1(IMPC)Rbrc}	HET	Early adult	1.39×10^-05
decreased prepulse inhibition	Twist1^{em1(IMPC)Rbrc}	HET	Early adult	1.33×10^-05
abnormal nail morphology	Twist1^{em1(IMPC)Rbrc}	HET	Early adult	3.54×10^-15
abnormal pelvic girdle bone morphology	Twist1^{em1(IMPC)Rbrc}	HET	Early adult	4.67×10^-06
abnormal zygomatic bone morphology	Twist1^{em1(IMPC)Rbrc}	HET	Early adult	6.97×10^-11
abnormal vertebral arch morphology	Twist1^{em1(IMPC)Rbrc}	HET	Early adult	2.39×10^-06
abnormal digit morphology	Twist1^{em1(IMPC)Rbrc}	HET	Early adult	1.23×10^-21
abnormal vertebrae morphology	Twist1^{em1(IMPC)Rbrc}	HET	Early adult	8.79×10^-05
abnormal autopod morphology	Twist1^{em1(IMPC)Rbrc}	HET	Early adult	3.54×10^-15
abnormal brain morphology	Twist1^{em1(IMPC)Rbrc}	HET	Early adult	0.00
abnormal cranium morphology	Twist1^{em1(IMPC)Rbrc}	HET	Early adult	4.18×10^-10
increased grip strength	Twist1^{em1(IMPC)Rbrc}	HET	Early adult	4.53×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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.

Gross Pathology and Tissue Collection

Images

21 Images

View images

Combined SHIRPA and Dysmorphology

Images

9 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

X-ray

XRay Images Hind Leg and Hip

10 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

2 Images

View 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.

Human diseases associated with Twist1 (7 diseases)
Human diseases predicted to be associated with Twist1 (1238 diseases)

The table below shows human diseases associated to Twist1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Craniosynostosis 1	Frontal bossing, Turricephaly, Sagittal craniosynostosis, Craniosynostosis, Oxycephaly, Scaphocep...	OMIM:123100
Non-Syndromic Sagittal Craniosynostosis	Prominent occiput, Frontal bossing, Dolichocephaly	ORPHA:35093
Robinow-Sorauf Syndrome	Hallux valgus, Broad hallux, Craniosynostosis, Plagiocephaly, Pansynostosis, Duplication of the d...	OMIM:180750
Saethre-Chotzen Syndrome	Proximal radio-ulnar synostosis, Finger syndactyly, Hallux valgus, Brachydactyly, Craniosynostosi...	ORPHA:794
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Brachydactyly, Brachycephaly, Midface retrusion	ORPHA:35099
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Micrognathia, Long fingers, Wide anterior...	OMIM:617746

The table below shows human diseases predicted to be associated to Twist1 by phenotypic similarity.

Disease	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	Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista...	OMIM:185900
Craniosynostosis, Adelaide Type	Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m...	OMIM:600593
Summitt Syndrome	Syndactyly, Oxycephaly, Craniosynostosis	OMIM:272350
Aurocephalosyndactyly	4-5 toe syndactyly, Craniosynostosis	OMIM:109050
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Oliver Syndrome	Postaxial hand polydactyly	OMIM:258200
Polydactyly, Postaxial, Type A9	Postaxial foot polydactyly, Postaxial hand polydactyly	OMIM:618219
Polydactyly, Postaxial, Type A10	Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A	OMIM:618498
Polydactyly, Postaxial, Type A2	Postaxial hand polydactyly	OMIM:602085
Polydactyly, Preaxial I	Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin...	OMIM:174400
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Symphalangism, Distal	Craniosynostosis, Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin cr...	OMIM:185700
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Syngnathia	Cleft palate	OMIM:119550
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Craniosynostosis 3	Hallux valgus, Single transverse palmar crease, Sagittal craniosynostosis, Left unicoronal synost...	OMIM:615314
Hydrocephalus, Autosomal Dominant	Sagittal craniosynostosis	OMIM:123155
Kleeblattschaedel	Cloverleaf skull, Elbow ankylosis, Craniosynostosis	OMIM:148800
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly, Oligodactyly	OMIM:614416
Osseous Heteroplasia, Progressive	Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue	OMIM:166350
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate	OMIM:172880
Craniosynostosis With Fibular Aplasia	Single transverse palmar crease, Craniosynostosis, Fibular aplasia	OMIM:218550
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2...	OMIM:123150
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome	Postaxial hand polydactyly	ORPHA:1566
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Craniosynostosis 1	Frontal bossing, Turricephaly, Sagittal craniosynostosis, Craniosynostosis, Oxycephaly, Scaphocep...	OMIM:123100
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Non-Syndromic Sagittal Craniosynostosis	Prominent occiput, Frontal bossing, Dolichocephaly	ORPHA:35093
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca...	OMIM:311895
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Holoprosencephaly, Semilobar, With Craniosynostosis	Coronal craniosynostosis, Short distal phalanx of finger, Lambdoidal craniosynostosis, Coxa valga	OMIM:601370
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Greig Cephalopolysyndactyly Syndrome	Frontal bossing, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Preax...	ORPHA:380
Hunter-Mcalpine Craniosynostosis Syndrome	Craniosynostosis	OMIM:601379
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome	Craniosynostosis	ORPHA:2866
Syndactyly-Polydactyly-Earlobe Syndrome	Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda...	OMIM:186350
Craniosynostosis-Mental Retardation-Clefting Syndrome	Forearm undergrowth, Craniosynostosis, Lower limb undergrowth	OMIM:218650
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Narrow chest, M...	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	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala...	OMIM:612961
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Summitt Syndrome	Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu...	ORPHA:3210
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Thickened calvaria, Brachycephaly, Craniosynostosis	ORPHA:178377
Carpenter Syndrome	Syndactyly, Turricephaly, Cloverleaf skull, Finger syndactyly, Toe syndactyly, Craniosynostosis, ...	ORPHA:65759
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Polydactyly, Postaxial, Type A7	Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous...	OMIM:617642
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Greig Cephalopolysyndactyly Syndrome	Frontal bossing, Broad hallux phalanx, Broad hallux, Trigonocephaly, Craniosynostosis, 1-3 toe sy...	OMIM:175700
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Potocki-Shaffer syndrome	Parietal foramina, Delayed cranial suture closure	DECIPHER:34
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Ectrodactyly-Polydactyly	Split hand, Postaxial hand polydactyly, Split foot	OMIM:225290
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Abnormal thorax morphology, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal ...	ORPHA:294975
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Frontal bossing, Orbital craniosynostosis, Dolichocephaly	ORPHA:1538
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Short thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe	OMIM:176305
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ...	OMIM:617405
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Craniosynostosis 2	Frontal bossing, Bicoronal synostosis, Wormian bones, Turricephaly, Craniosynostosis, Brachycepha...	OMIM:604757
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Sprengel Deformity	Abnormal shoulder morphology, Shoulder muscle hypoplasia, Cleft palate, Abnormality of the should...	ORPHA:3181
Prognathism, Mandibular	Craniosynostosis	OMIM:176700
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss...	ORPHA:3104
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Disorganization, Mouse, Homolog Of	Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication	OMIM:223200
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Polydactyly, Postaxial, With Progressive Myopia	Postaxial hand polydactyly	OMIM:174310
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Narrow chest, Flared elbow...	ORPHA:1423
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Split-Foot Malformation With Mesoaxial Polydactyly	1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
16P13.11 Microduplication Syndrome	Arachnodactyly, Craniosynostosis, Joint hyperflexibility, Hand polydactyly, Dolichocephaly	ORPHA:261243
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta...	OMIM:609052
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro...	ORPHA:1350
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna...	ORPHA:3268
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hitchhiker thumb, Capitate-hamate fusion, Radial head subluxation, Short toe, G...	OMIM:614078
Holzgreve Syndrome	Hand polydactyly, Cleft palate, Cleft upper lip	OMIM:236110
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph...	ORPHA:93351
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le...	OMIM:249710
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Limitation of joint mobility, Coxa vara, Flared, irregular rib ends, Short palm	ORPHA:168555
Split-Foot Deformity With Mandibulofacial Dysostosis	Split hand, Toe syndactyly, Cleft palate, Split foot	OMIM:183700
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ...	DECIPHER:46
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Craniosynostosis	ORPHA:88643
Trigonocephaly With Short Stature And Developmental Delay	Sagittal craniosynostosis, Premature posterior fontanelle closure, Small anterior fontanelle, Cli...	OMIM:314320
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Hypophosphatasia, Childhood	Frontal bossing, Bowing of the legs, Craniosynostosis, Dolichocephaly	OMIM:241510
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific...	ORPHA:1426
Crouzon Syndrome With Acanthosis Nigricans	Brachycephaly, Craniosynostosis, Midface retrusion	OMIM:612247
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Muenke Syndrome	Broad hallux, Capitate-hamate fusion, Clinodactyly, Brachycephaly, Cone-shaped epiphyses of the p...	OMIM:602849
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate	ORPHA:1074
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal rib morphology, Clavicular sclero...	ORPHA:2790
Lowry-Maclean Syndrome	Craniosynostosis	OMIM:600252
Cranioectodermal Dysplasia	Frontal bossing, Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Osteoporosis, Pr...	ORPHA:1515
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Frontal bossing, Brachydactyly, Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal...	ORPHA:2787
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Long thorax, Mesomelia, Brachydactyly	ORPHA:1277
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias...	OMIM:617927
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, White...	ORPHA:2779
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Fifth finger distal phalanx clinodactyly, Metopic suture patent to nasal root, Premature posterio...	ORPHA:3369
Thoracomelic Dysplasia	Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Joint hyperflexib...	ORPHA:1803
Robinow-Sorauf Syndrome	Hallux valgus, Broad hallux, Craniosynostosis, Plagiocephaly, Pansynostosis, Duplication of the d...	OMIM:180750
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Abnormal ...	ORPHA:2635
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short h...	ORPHA:93258
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis, Short thorax, Abnormal epiphysis morphology, Micromelia	ORPHA:93283
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv...	OMIM:215045
Craniosynostosis 6	Turricephaly, Delayed cranial suture closure, Craniosynostosis, Parietal foramina, Brachycephaly,...	OMIM:616602
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Arthropathy, Craniosynostosis, Scaphocephaly, Hip dislocation, Clubbing, Joint contracture of the...	OMIM:618523
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ...	OMIM:156530
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Osteoarthritis, Arthralgia of the hip, Abnormality of ...	ORPHA:166002
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Craniosynostosis, Abnormality of thumb phalanx, Preaxial hand ...	ORPHA:1553
Bardet-Biedl Syndrome 7	Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly	OMIM:615984
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal dysplasia, Short metacarpal, Abnormal hair morphology, Cone-shaped epiphyses of the p...	OMIM:250460
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Eiken Syndrome	Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b...	ORPHA:79106
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology	ORPHA:2730
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Bowing of the legs, Pectus excavatum, Limb undergrowth, Limited elbow extension, Thoracic hypoplasia	ORPHA:156728
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Autosomal Recessive Omodysplasia	Frontal bossing, Abnormal morphology of the radius, Rhizomelia, Craniosynostosis, Micromelia, Elb...	ORPHA:93329
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Lateral hum...	ORPHA:2741
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p...	OMIM:200700
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Pectus excavatum,...	ORPHA:63446
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Craniofrontonasal Dysplasia	Frontal bossing, Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Cr...	ORPHA:1520
Cleft Palate, Isolated	Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate	OMIM:119540
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap...	OMIM:608728
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o...	ORPHA:93323
Triphalangeal Thumbs With Brachyectrodactyly	Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly	OMIM:190680
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa...	ORPHA:2098
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,...	ORPHA:957
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cleft palate	OMIM:261800
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb	ORPHA:2091
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Craniosynostosis, Joint hypermobility	OMIM:618906
Adducted Thumbs Syndrome	Arthrogryposis multiplex congenita, Craniosynostosis	OMIM:201550
Arthrogryposis, Distal, Type 1C	Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ...	OMIM:619110
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Plagiocephaly, Slender long bone, Decreased calvarial ossification, Trigonoceph...	OMIM:618265
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Irregularity of vertebral bodies, Flat distal femoral epiphysis, Epiphyseal dysplasia, Abnormalit...	OMIM:609324
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening	ORPHA:1513
Congenital Disorder Of Glycosylation, Type Iin	Osteopenia, Craniosynostosis, Joint hypermobility	OMIM:616721
Cleft Palate-Lateral Synechia Syndrome	Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth	ORPHA:2016
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl...	OMIM:615633
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long...	OMIM:151210
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Turricephaly, Craniosynostosis, Micromelia, Split hand, Brachycephaly, Brachyd...	ORPHA:2145
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Narrow chest, Short ri...	OMIM:618961
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology	OMIM:259270
Cutis Laxa, Autosomal Recessive, Type Iie	Joint laxity, Syndactyly, Brachydactyly, Craniosynostosis, Hip dislocation, Deep palmar crease, C...	OMIM:619451
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia	OMIM:300484
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Craniosynostosis 4	Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Metopic synostosis, Corona...	OMIM:600775
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the...	OMIM:609616
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Hypoplast...	OMIM:607778
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later...	OMIM:269250
Craniotelencephalic Dysplasia	Frontal bossing, Craniosynostosis	ORPHA:1528
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Cleft palate...	OMIM:258860
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate	ORPHA:718
Heart Defects-Limb Shortening Syndrome	Death in infancy, Mesomelic/rhizomelic limb shortening, Abnormal rib morphology, Narrow chest, Ab...	ORPHA:1354
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Abnormal cortical bone morphology, Increased bone mineral density, Abnormal lim...	ORPHA:2204
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Enlargement ...	OMIM:271650
Muenke Syndrome	Tarsal synostosis, Brachycephaly, Plagiocephaly, Cone-shaped epiphysis, Short foot, Short palm, C...	ORPHA:53271
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Flat occiput, Delayed closure of the anterior fontanelle, Brachycephaly, Lambdoidal craniosynosto...	OMIM:618736
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Clinodactyly of the 5th finger, Frontal bossing, Craniosynostosis, Dolichocephaly	ORPHA:1516
Craniotelencephalic Dysplasia	Craniosynostosis	OMIM:218670
Orofaciodigital Syndrome Xi	Cleft palate, Postaxial polydactyly	OMIM:612913
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p...	OMIM:609813
Odontochondrodysplasia 1	Death in infancy, Short metacarpal, Brachydactyly, Micromelia, Metaphyseal widening, Osteoporosis...	OMIM:184260
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Gordon Syndrome	Finger syndactyly, Camptodactyly of finger, Cleft palate, High palate, Clinodactyly of the 5th fi...	ORPHA:376
2q33.1 deletion syndrome	High palate, Cleft palate	DECIPHER:51
Hartsfield Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Craniosynostosis	ORPHA:2117
Hypophosphatasia	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Large fontanelles, Abnormal meta...	ORPHA:436
Atelosteogenesis, Type Ii	Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Micromelia, Short neck, Increased interverte...	OMIM:256050
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c...	OMIM:300863
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe...	ORPHA:1508
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Osteoar...	ORPHA:429
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han...	OMIM:200600
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ulnar deviation of the wrist, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Clinodactyly,...	OMIM:618577
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu...	OMIM:166210
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Frontal bossing, Brachycephaly, Craniosynostosis	ORPHA:314575
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Death in infancy, Toe syndactyly, Elbow flexion contracture, 2-3 toe...	OMIM:616809
Diastrophic Dysplasia	Abnormal clavicle morphology, Bowing of the long bones, Increased bone mineral density, Camptodac...	ORPHA:628
Trigonocephaly 1	Metopic synostosis, Trigonocephaly, Craniosynostosis	OMIM:190440
Enlarged Parietal Foramina	Parietal foramina, Broad thumb, Short clavicles, Craniosynostosis	ORPHA:60015
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th...	ORPHA:2631
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Stillbirth, Narrow chest, Absent or minimally ossified vertebral bo...	OMIM:600972
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ...	ORPHA:93267
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Grant Syndrome	Bowing of the long bones, Micrognathia, Abnormal cortical bone morphology, Abnormal rib morpholog...	ORPHA:2097
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Short foot, Abnormal hand morphology, Small hand, Cleft palate	OMIM:300261
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han...	OMIM:164900
Bent Bone Dysplasia Syndrome 1	Bent long bone, Hypoplastic pubic bone, Decreased calvarial ossification, Short clavicles, Corona...	OMIM:614592
Coloboma Of Macula And Skeletal Anomalies	Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5...	OMIM:216800
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph...	OMIM:122860
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis	OMIM:614732
Acrorenal Syndrome	Abnormal morphology of ulna, Abnormal tibia morphology, Split hand, Cleft palate, Aplasia/Hypopla...	ORPHA:971
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the dentition, Polydactyly, Brachydactyly	OMIM:615982
Ghosal Hematodiaphyseal Dysplasia	Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal form of ...	ORPHA:1802
Aase-Smith Syndrome	Multiple joint contractures, Camptodactyly of finger, Trismus, Aplasia/Hypoplasia of the radius, ...	ORPHA:916
Holoprosencephaly-Craniosynostosis Syndrome	Brachydactyly, Craniosynostosis, Coxa valga, Brachycephaly, Plagiocephaly, Clinodactyly of the 5t...	ORPHA:2163
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Scalp Defects-Postaxial Polydactyly Syndrome	Calvarial skull defect, Postaxial polydactyly type A	ORPHA:1003
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Joint stiffness, Joint hyperflexibility, Acromesomelia, Sprengel anomal...	ORPHA:40
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Pectus carinatum...	OMIM:259440
Pfeiffer Syndrome	Syndactyly, Finger syndactyly, Cloverleaf skull, Broad hallux, Shortening of all middle phalanges...	OMIM:101600
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Grant Syndrome	Wormian bones, Down-sloping shoulders, Tibial bowing	OMIM:138930
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, E...	ORPHA:2249
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification...	OMIM:300244
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Turricephaly, Toe syndactyly, Bowing of the long bones, Craniosynostosis, Large fontanelles, Brac...	ORPHA:171839
Antley-Bixler Syndrome	Frontal bossing, Turricephaly, Arachnodactyly, Recurrent fractures, Craniosynostosis, Joint stiff...	ORPHA:83
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal form of the vertebral bodies, Abnormal pelvic girdle bone morphology, Hip dysplasia, Sco...	ORPHA:2370
Cardiocranial Syndrome, Pfeiffer Type	Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, S...	ORPHA:2872
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint...	OMIM:603543
Pseudoachondroplasia	Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Ost...	OMIM:177170
Cole-Carpenter Syndrome 1	Osteopenia, Frontal bossing, Recurrent fractures, Reduced bone mineral density, Wormian bones, Co...	OMIM:112240
Achondrogenesis Type 1B	Micromelia, Abnormal enchondral ossification, Micrognathia, Short thorax, Abnormal rib morphology...	ORPHA:93298
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod...	OMIM:602418
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Long toe, Arachnodactyly, Cleft lip, Cleft palate, Large hands	OMIM:300263
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
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Camptodactyly, Neona...	OMIM:619751
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Frontal bossing, Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Flexio...	OMIM:207410
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Vertebral hypoplasi...	OMIM:602557
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Rhizomelia, Recu...	OMIM:616229
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,...	OMIM:602196
Macrocephaly-Developmental Delay Syndrome	Clinodactyly of the 5th finger, Frontal bossing, Scaphocephaly, Craniosynostosis	ORPHA:397612
Acrocephalopolydactyly	Limb undergrowth, Short long bone, Thoracic hypoplasia, Brachydactyly	ORPHA:221054
Achondrogenesis Type 1A	Multiple rib fractures, Recurrent fractures, Micromelia, Abnormal enchondral ossification, Microg...	ORPHA:93299
Cole-Carpenter Syndrome 2	Osteopenia, Frontal bossing, Wide cranial sutures, Turricephaly, Recurrent fractures, Lambdoidal ...	OMIM:616294
Larsen Syndrome	Finger syndactyly, Brachydactyly, Craniosynostosis, Large joint dislocations, Accessory carpal bo...	ORPHA:503
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Brachycephaly, Clinodactyly of the 5th finger,...	OMIM:201000
Odontochondrodysplasia	Death in infancy, Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysis, Joint ...	ORPHA:166272
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Limitation of joint mobility, Epiphyseal stippling, Abnormal epiphysis morphology, Li...	ORPHA:177
Holt-Oram Syndrome	Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit...	ORPHA:392
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Frontal bossing, Recurrent fractures, Craniosynostosis, Joint hypermobility	OMIM:147060
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d...	ORPHA:968
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Short middle phalanx of the 2nd finger, Partial duplication of thumb pha...	OMIM:617926
Choanal Atresia	Tracheomalacia, Polydactyly, Craniosynostosis	ORPHA:137914
Tetramelic Monodactyly	Split hand, Oligodactyly	ORPHA:2564
Cdags Syndrome	Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Large fontanelles, Brachycephaly, ...	OMIM:603116
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Tracheobronchomalacia, Narrow chest, Short phalanx of finger, Broad met...	ORPHA:56304
Bardet-Biedl Syndrome 8	Brachycephaly, Postaxial polydactyly	OMIM:615985
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Frontal bossing, Short fourth metatarsal, Short metacarpal, Overlapping toe, Craniosy...	OMIM:616723
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ...	OMIM:147891
Osteoglosphonic Dysplasia	Brachydactyly, Rhizomelia, Craniosynostosis, Abnormal bone ossification	ORPHA:2645
Greenberg Dysplasia	Micromelia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mine...	OMIM:215140
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Cleft soft palate,...	ORPHA:2756
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Short palm, Clin...	ORPHA:457395
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Thoracic hypop...	OMIM:617866
Joubert Syndrome 20	Inability to walk, 4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Multiple Synostoses Syndrome 4	Otosclerosis, Overlapping toe, Tarsal synostosis, Brachydactyly	OMIM:617898
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow...	OMIM:602111
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h...	OMIM:252600
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Bilateral coxa valga, Platyspondyly, Abnormal vertebral morphology, Abnormal ilium morphology	ORPHA:163665
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ...	OMIM:165590
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de...	ORPHA:970
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Joint stiffness, Cupped ribs, Metaphyseal widening, Coxa vara, Tibi...	OMIM:608940
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Preaxial foot polydactyly, Polysyndactyly of hallux, Aganglionic megacolon	OMIM:235750
Fibrochondrogenesis 2	Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplast...	OMIM:614524
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short thorax, Short metatarsa...	OMIM:617102
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition	OMIM:216300
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hypoplasia of the odontoid proce...	OMIM:184250
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Micrognathia, Abnormality of the elbow, Abnormal rib morphology, Limitation ...	ORPHA:1486
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Facial Clefting, Oblique, 1	Deep palmar crease, Cleft palate, Cleft upper lip	OMIM:600251
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Cupped...	OMIM:250420
Corpus Callosum Agenesis-Neuronopathy Syndrome	Turricephaly, Craniosynostosis	ORPHA:1496
Weaver-Williams Syndrome	Cleft palate, Narrow mouth	ORPHA:3448
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Metaphyseal widening, Delayed ep...	ORPHA:93314
Polydactyly, Postaxial, Type A6	Postaxial foot polydactyly, Postaxial hand polydactyly, Broad phalanges of the 5th finger	OMIM:615226
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Cranioectodermal Dysplasia 4	Frontal bossing, Sagittal craniosynostosis, Hip dysplasia, Cutaneous finger syndactyly, Broad pha...	OMIM:614378
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Rocker bottom foot, Micrognathia, Prenatal death, Camptodactyly, Neonatal death...	OMIM:618393
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Wide anterior fontanel, Genu v...	OMIM:620099
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis, Coxa valga	OMIM:616943
X-Linked Intellectual Disability, Cilliers Type	Clinodactyly of the 5th finger, Coronal craniosynostosis, Small hand	ORPHA:163971
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Achondroplasia	Rhizomelia, Thoracic hypoplasia, Hip joint hypermobility, Bowing of the legs, Short proximal phal...	ORPHA:15
Acrocraniofacial Dysostosis	Turricephaly, Craniosynostosis, Tapered finger, Coxa valga, Genu valgum, Ulnar deviation of finge...	ORPHA:949
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Hypoplastic ischia, Bowing of the legs, Metopic depression, Decreased calvarial ossif...	ORPHA:313855
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Limited elbow extension, Short metatarsal, Small hand, Short foot, ...	OMIM:180870
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t...	ORPHA:90650
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Diaphanospondylodysostosis	Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax, Absent or minimally ossified ver...	ORPHA:66637
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Narrow chest, Brachydactyly	OMIM:613819
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormality of the hand, Abnormal thumb morphology...	ORPHA:1842
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cutaneous finger syndacty...	OMIM:101200
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Vertebral hypoplasia...	OMIM:108720
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Aplasia of the ulna, Absen...	OMIM:142900
9Q21.13 Microdeletion Syndrome	Hip dysplasia, Polydactyly, Craniosynostosis	ORPHA:531151
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Coxa valga, Osteoporosis, Finger clinodactyly, Bilateral talipes equinovarus, Supernumerary ribs	ORPHA:2958
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Delayed epip...	OMIM:613320
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia	OMIM:273680
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S...	OMIM:200610
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Abnormal hip joint morphology, Broad hallux, Ovoid vertebral bodies, Abno...	ORPHA:1856
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Pectus...	OMIM:223800
X-Linked Intellectual Disability, Van Esch Type	Clinodactyly of the 5th finger, Coronal craniosynostosis	ORPHA:163976
Melnick-Needles Syndrome	Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Micrognathia, Short thorax, Hip ...	ORPHA:2484
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Enlargement of the ...	OMIM:600081
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hyp...	OMIM:228520
Spondylometaphyseal Dysplasia, Kozlowski Type	Irregular, rachitic-like metaphyses, Hypoplasia of the odontoid process, Flared metaphysis, Elbow...	OMIM:184252
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormal ri...	ORPHA:3035
Hydrolethalus Syndrome 2	Postaxial foot polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate	OMIM:614120
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Meckel Syndrome, Type 3	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Cleft palate	OMIM:607361
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Elbow dislocation, Absent radius,...	OMIM:171480
Achondrogenesis	Micromelia, Abnormal enchondral ossification, Micrognathia, Short thorax, Abnormality of bone min...	ORPHA:932
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Clinodactyly of the 5th finger, Upper limb asymmetry, Polydactyly, Delayed closure of the anterio...	ORPHA:231140
Gomez-Lopez-Hernandez Syndrome	Turricephaly, Craniosynostosis, Wide anterior fontanel, Brachycephaly, Skull asymmetry, Wormian b...	OMIM:601853
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Joint laxity, Frontal bossing, Prominent metopic ridge, Arachnodactyly, Postaxial polydactyly, Ta...	OMIM:619721
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Limb joint contracture, Craniosynostosis, Ankle flexion contracture, Knee flexion contracture, Bi...	ORPHA:284417
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Lateral cla...	OMIM:617895
Curry-Jones Syndrome	Duplication of thumb phalanx, Unicoronal synostosis, Preaxial hand polydactyly, 2-3 finger syndac...	OMIM:601707
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Triphalangeal thumb,...	OMIM:141400
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Joubert Syndrome 17	Ataxia, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Cranioectodermal Dysplasia 3	Joint laxity, Frontal bossing, Rhizomelia, Sandal gap, Sagittal craniosynostosis, Postaxial polyd...	OMIM:614099
Osteogenesis Imperfecta, Type X	Osteopenia, Multiple rib fractures, Bowing of the long bones, Short femur, Rhizomelia, Thoracic s...	OMIM:613848
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Narrow gr...	OMIM:602271
Osteopetrosis, Autosomal Recessive 1	Frontal bossing, Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis,...	OMIM:259700
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Knee...	OMIM:609945
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph...	ORPHA:2928
Frontometaphyseal Dysplasia 1	Carpal synostosis, Limited elbow movement, Knee flexion contracture, Increased density of long bo...	OMIM:305620
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi...	OMIM:601356
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol...	ORPHA:85166
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Thoracic hypoplasia, Bowing of the legs, Delayed epiphyseal ossification, Metaphyse...	ORPHA:93352
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ...	ORPHA:89936
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
White Forelock With Malformations	Finger syndactyly, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly of the 5th finge...	ORPHA:2475
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ...	ORPHA:93324
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Vertebral fusion, Elbow contracture, Multiple pterygia, Craniosynostosis, Tarsal...	OMIM:178110
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis	OMIM:241310
Osteogenesis Imperfecta, Type V	Hyperextensibility of the finger joints, Vertebral wedging, Platyspondyly, Abnormal pelvic girdle...	OMIM:610967
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy	Flexion contracture, Craniosynostosis	OMIM:619076
Hirschsprung Disease-Deafness-Polydactyly Syndrome	Postaxial hand polydactyly, Aganglionic megacolon, Foot polydactyly	ORPHA:2155
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ...	ORPHA:85184
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Short ribs, Sprengel a...	OMIM:173800
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Straight clavicles, Short clavicles, Type E brachydactyly, Br...	OMIM:113300
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short lingual frenulum...	OMIM:614091
Laurence-Moon Syndrome	Ataxia, Polydactyly, Abnormality of the hand	OMIM:245800
Chromosome 5P13 Duplication Syndrome	Frontal bossing, Turricephaly, Single transverse palmar crease, Craniosynostosis, Long fingers, B...	OMIM:613174
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal widening, Limit...	OMIM:224400
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Barrel-shaped chest, Joint laxity, Rhizomelia, Metaphyseal widening, Irregular epiphyses, Short f...	OMIM:612813
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva...	ORPHA:2772
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
Becker Nevus Syndrome	Micromelia, Pectus excavatum, Abnormal tibia morphology, Rib fusion, Upper limb asymmetry, Pectus...	ORPHA:64755
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Mesomelic Dysplasia, Savarirayan Type	Abnormal thorax morphology, Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated ...	OMIM:605274
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Carpal synostosis, Abnormality of ...	ORPHA:2010
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Abnormal rib m...	ORPHA:2021
Joubert Syndrome 27	Polydactyly, Ataxia, Gait ataxia	OMIM:617120
Joubert Syndrome 10	Frontal bossing, Postaxial polydactyly	OMIM:300804
Ulna Metaphyseal Dysplasia Syndrome	Abnormal morphology of ulna, Abnormal fibula morphology, Abnormal form of the vertebral bodies, A...	ORPHA:1837
Hypophosphatasia, Infantile	Craniosynostosis, Bowing of the legs, Micromelia, Increased susceptibility to fractures, Decrease...	OMIM:241500
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Joubert Syndrome 15	Exencephaly	OMIM:614464
Crouzon Syndrome	Frontal bossing, Turricephaly, Brachycephaly, Multiple suture craniosynostosis, Midface retrusion	ORPHA:207
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Decreased fibular diameter, Be...	OMIM:616897
Mesomelia-Synostoses Syndrome	Brachydactyly, Micromelia, Abnormality of the hand, Abnormality of the humerus, Abnormal metacarp...	ORPHA:2496
Parenti-Mignot Neurodevelopmental Syndrome	Frontal bossing, Craniosynostosis	OMIM:619873
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Limitation of joint mob...	ORPHA:178303
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Rhizomelia, Abnormality of the humerus, Preaxial hand polydactyly, Abnormality of ...	ORPHA:3098
Frontoocular Syndrome	Trigonocephaly, Coronal craniosynostosis	OMIM:605321
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Fl...	ORPHA:1865
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of...	ORPHA:2319
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Genu valgum, Slender long bones with narrow diaphyses, Abnormal rib cage morphology, ...	OMIM:608154
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity...	OMIM:249700
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Pectus excavatum, Flattened epiphysis, Genu valgum, Pectus ...	OMIM:607131
Kenny-Caffey Syndrome, Type 1	Long clavicles, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bone, Short palm,...	OMIM:244460
Mohr Syndrome	Syndactyly, Median cleft lip, Accessory oral frenulum, Preaxial hand polydactyly, Postaxial hand ...	OMIM:252100
Campomelia, Cumming Type	Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal t...	ORPHA:1318
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ...	ORPHA:1826
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Symphalangism...	ORPHA:710
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation...	ORPHA:3329
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Metaphyseal widening, Abnormal thorax morphology, Triangular shaped distal phalange...	ORPHA:73230
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Femoral-Facial Syndrome	Short femur, Micrognathia, Abnormal rib morphology, Rib fusion, Abnormal fibula morphology, Coxa ...	ORPHA:1988
Say Syndrome	Ulnar deviation of the 3rd finger, Short distal phalanx of finger, Cleft palate, Tapered finger	OMIM:181180
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S...	OMIM:615503
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ...	ORPHA:1512
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Meckel Syndrome, Type 5	Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial fo...	OMIM:611561
Microcephaly-Micromelia Syndrome	Craniosynostosis, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis, Forearm under...	OMIM:251230
Joubert Syndrome 18	Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft palate, Lobulated tongue, ...	OMIM:614815
Microphthalmia, Syndromic 8	Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Split foot	OMIM:601349
Osteogenesis Imperfecta, Type Xxi	Barrel-shaped chest, Recurrent fractures, Coxa valga, Bowing of the legs, Pectus excavatum, Osteo...	OMIM:619131
Split-Hand/Foot Malformation 3	Split hand, Cleft palate, High palate, Narrow mouth, Camptodactyly	OMIM:246560
Omphalocele-Cleft Palate Syndrome, Lethal	Bifid uvula, Cleft palate	OMIM:258320
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb morphology, Short thorax, Small hand,...	ORPHA:1597
Ankylosing Vertebral Hyperostosis With Tylosis	Abnormality of the vertebral column, Palmoplantar keratoderma, Obesity, Abnormal pelvis bone morp...	ORPHA:2206
Crouzon Syndrome	Frontal bossing, Sagittal craniosynostosis, Brachycephaly, Lambdoidal craniosynostosis, Coronal c...	OMIM:123500
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Short neck, Micrognathia, Adducted thumb, Ulnar ...	ORPHA:1147
Osteoglophonic Dysplasia	Osteopenia, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad metacar...	OMIM:166250
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Anterior ...	OMIM:211350
Acromesomelic Dysplasia 1	Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad...	OMIM:602875
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Genu valgum, Short philt...	OMIM:619142
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Dental malocclusion, Abnormal pelvic girdle bone morphology, Metacarpal...	OMIM:144750
Marshall-Smith Syndrome	Bowing of the long bones, Craniosynostosis, Increased susceptibility to fractures, Reduced bone m...	ORPHA:561
1P31P32 Microdeletion Syndrome	Frontal bossing, Craniosynostosis	ORPHA:401986
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the distal phalange...	ORPHA:94066
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz...	OMIM:618019
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Multiple joint dislocation, Brachycephaly, Knee dislocation, Shoulder dislocation, Di...	OMIM:245600
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m...	ORPHA:1422
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow chest, Short p...	OMIM:250220
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Craniosynostosis, Large fontanelles, Biparietal narrowing, Camptodact...	ORPHA:251038
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Micrognathia,...	ORPHA:3082
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Cleidocranial Dysplasia	Mandibular prognathia, Micrognathia, Coxa vara, Hypoplastic inferior ilia, Clinodactyly of the 5t...	ORPHA:1452
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology	ORPHA:1506
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Glossoptosis, Long philtrum, Cleft palate, Abnormal metacarpal morphology	ORPHA:166100
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of...	ORPHA:199306
Cardioacrofacial Dysplasia 2	Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ...	OMIM:619143
Slc35A2-Cdg	Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Abnormality of the...	ORPHA:356961
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, 2-3 toe cutaneous syndactyly, Knee flexion contracture, Femoral bowing,...	OMIM:600920
Chromosome 10Q26 Deletion Syndrome	Frontal bossing, Scapular winging, Congenital hip dislocation, Toe syndactyly, Single transverse ...	OMIM:609625
Cooper-Jabs Syndrome	Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Redu...	ORPHA:1488
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormally o...	ORPHA:1427
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b...	OMIM:224300
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Cleft upper lip, Palmoplantar hyperkeratosis, Cleft palate, Cutaneou...	OMIM:225060
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Joint dislocation, Genu recurvatum, Single transverse palmar crease, Flexion contract...	OMIM:130070
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Tapered finger, Hip dislocation, Thin ribs, Delayed ossific...	OMIM:618395
Spondyloepimetaphyseal Dysplasia, X-Linked	Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum...	OMIM:300106
Pycnodysostosis	Joint laxity, Frontal bossing, Persistent open anterior fontanelle, Increased bone mineral densit...	ORPHA:763
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Bifid uvula, Submucous cleft hard palate, Camptodactyly of finger, Cleft palate	ORPHA:2521
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Sagittal craniosynostosis, Scaphocephaly, Small hand, Brachycephaly, Camptodactyly, Trigonocephal...	ORPHA:459061
Pallister-Hall-Like Syndrome	Death in infancy, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislo...	OMIM:241800
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Brachycephaly, Knee flexion contrac...	ORPHA:3103
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Lip pit	ORPHA:1072
Saethre-Chotzen Syndrome	Proximal radio-ulnar synostosis, Finger syndactyly, Hallux valgus, Brachydactyly, Craniosynostosi...	ORPHA:794
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Enlargement of the ...	OMIM:241530
3M Syndrome	Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme...	ORPHA:2616
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac crest serrat...	ORPHA:239
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Cleft uppe...	OMIM:613091
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Abnormality of the elbo...	ORPHA:3121
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Cleft upper lip, Cleft palate, Clinodactyly of the 5th fi...	OMIM:244600
19P13.12 Microdeletion Syndrome	Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Brachycephaly, Deep palmar cre...	ORPHA:254346
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs	ORPHA:66630
Seckel Syndrome	Sandal gap, Craniosynostosis, Cone-shaped epiphysis, Joint hyperflexibility, Hip dysplasia, Clino...	ORPHA:808
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Barrel-shaped chest, Joint laxity, Rhizomelia, Mesomelia, Broad thumb, Brachydactyly	ORPHA:171866
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal pelvic gi...	ORPHA:3429
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Craniosynostosis, Joint hypermobility	OMIM:619056
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Overlapping fingers, Rocker bottom foot, Craniosynostosis, Coxa valga, Postaxial hand polydactyly...	OMIM:301056
Craniosynostosis And Dental Anomalies	Hallux valgus, Frontal bossing, Prominent metopic ridge, Flat occiput, Turricephaly, Broad hallux...	OMIM:614188
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath...	OMIM:227270
Abruzzo-Erickson Syndrome	Radioulnar synostosis, Cleft palate	OMIM:302905
Ollier Disease	Abnormal metaphysis morphology, Osteolysis, Micromelia, Joint stiffness	ORPHA:296
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ...	ORPHA:50945
Nephronophthisis 15	Polydactyly	OMIM:614845
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Frontal bossing, Craniosynostosis	ORPHA:1064
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Frontal bossing, Short metacarpal, Brachydactyly, Metaphyseal dysplasia, Craniosynostosis, Metaph...	OMIM:250410
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Osteopenia, Short metacarpal, Radial bowing, Joint laxity, Recurrent fractur...	OMIM:610915
Acromesomelic Dysplasia 4	Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi...	OMIM:619636
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Death in infancy, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality...	ORPHA:163966
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac...	OMIM:259420
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Anterior rib cupping, Hypoplasia of the odontoid process, Metaphyseal widening, Flexion contractu...	OMIM:300232
Distal Deletion 10Q	Frontal bossing, Prominent metopic ridge, Scapular winging, Sandal gap, Single transverse palmar ...	ORPHA:96148
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn...	OMIM:271665
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Sandal gap, Single transverse palmar crease, Camptodactyly of finger, Joint hyperm...	OMIM:619951
Gorlin-Chaudhry-Moss Syndrome	Abnormal metacarpal morphology, Coronal craniosynostosis, Brachycephaly, Short distal phalanx of ...	ORPHA:2095
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp...	OMIM:206920
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook, Horizontal ribs, Early ossificat...	OMIM:208500
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Trigonocephaly, Scaphocephaly, Sagittal craniosynostosis	OMIM:616901
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Micrognathia, Carious teeth, Flared metaphysis, Hypoplastic pubic ...	ORPHA:93346
Multiple Epiphyseal Dysplasia Type 4	Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Arthral...	ORPHA:93307
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Calvarial skull defect, Frontal bossing, Coronal craniosynostosis, Brachycephaly	ORPHA:228390
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ...	OMIM:311300
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t...	ORPHA:3258
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol...	ORPHA:2167
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Downturned corners ...	OMIM:615761
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Frontal bossing, Short metacarpal, Craniosynostosis, Metaphyseal chondrodysplasia,...	ORPHA:166035
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Meckel Syndrome, Type 10	Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Cleft palate, Pos...	OMIM:614175
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida	ORPHA:2476
Meckel Syndrome, Type 2	Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Cleft palate, Polyd...	OMIM:603194
Hamamy Syndrome	Osteopenia, Syndactyly, Long toe, Recurrent fractures, Craniosynostosis, Tapered finger, Down-slo...	OMIM:611174
Mosaic Trisomy 14	Camptodactyly of finger, Micrognathia, Abnormal rib morphology, Narrow chest, Bilateral single tr...	ORPHA:1703
Stickler Syndrome, Type Ii	Arachnodactyly, Long fingers, High, narrow palate, Pierre-Robin sequence, Cleft palate, Bifid uvula	OMIM:604841
C Syndrome	Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, P...	OMIM:211750
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Abnormal hair morphology, Preaxial polydactyly, Scoliosis, Spi...	ORPHA:64754
Coffin-Siris Syndrome 7	Trigonocephaly, Clinodactyly of the 5th finger, Sagittal craniosynostosis, Brachydactyly	OMIM:618027
Anencephaly 2	Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge	OMIM:619452
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Brachydactyly, Brachycephaly, Midface retrusion	ORPHA:35099
Teebi Hypertelorism Syndrome 1	Frontal bossing, Sagittal craniosynostosis, Small hand, Broad palm, Coronal craniosynostosis	OMIM:145420
Bardet-Biedl Syndrome 16	Polydactyly	OMIM:615993
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Distal Duplication 5Q	Hypoplasia of the ulna, Craniosynostosis, Absent thumb, Hypoplasia of the radius, Brachydactyly	ORPHA:96097
Orofaciodigital Syndrome Vi	Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper lip, Hamartoma...	OMIM:277170
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact...	OMIM:174300
Desbuquois Dysplasia 2	Joint laxity, Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, Monkey wre...	OMIM:615777
Coxopodopatellar Syndrome	Abnormal epiphysis morphology, Abnormal pelvic girdle bone morphology, Hip dysplasia, Aplasia/Hyp...	ORPHA:1509
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Joint laxity, Frontal bossing, Genu recurvatum, Arachnodactyly, Craniosynostosis, Dol...	OMIM:182212
Craniometadiaphyseal Dysplasia	Osteopenia, Broad long bones, Coxa valga, Wide anterior fontanel, Flared metaphysis, Genu valgum,...	OMIM:269300
Gracile Bone Dysplasia	Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, ...	OMIM:602361
Aprosencephaly And Cerebellar Dysgenesis	Talipes equinovarus, Craniosynostosis	OMIM:601374
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ...	OMIM:264700
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Large posterior fontanelle, Frontal bossing, Tarsal synostosis, Aplastic clavicle, Parietal foram...	ORPHA:85199
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Senior-Loken Syndrome 9	Osteopenia, Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Thanatophoric Dysplasia	Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Short thorax, Joint hyperflexi...	ORPHA:2655
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi...	OMIM:184253
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio...	ORPHA:2712
Orofaciodigital Syndrome Ix	Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa...	OMIM:258865
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Crumpled long bones, Death in infancy, Rhizomelia, Protrusio ...	OMIM:610682
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Osteopenia, Recurrent shoulder dislocation, Down-sloping shoulders, Short clavicles, Finger joint...	OMIM:212112
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion	OMIM:616898
Schwartz-Jampel Syndrome, Type 1	Hip contracture, Bowing of the long bones, Congenital hip dislocation, Shoulder flexion contractu...	OMIM:255800
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Cleft palate, High palate, Evert...	OMIM:619736
Moebius Syndrome	Syndactyly, Brachydactyly, Short neck, Micrognathia, Split hand, Abnormal pelvic girdle bone morp...	OMIM:157900
Hogue-Janssen Syndrome 2	Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Plagiocephaly, Hip dysplasia, Devia...	OMIM:616362
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Ulnar deviation of the wrist, Elbow contracture, Pectus excavatum, 2-3 toe syndactyly...	OMIM:618162
Lowry-Maclean Syndrome	Osteopenia, Single transverse palmar crease, Craniosynostosis, Osteoporosis, Small anterior fonta...	ORPHA:2409
Pelger-Huet Anomaly	Abnormality of the dentition, Upper limb undergrowth, Gingival overgrowth, Polydactyly, Short 3rd...	OMIM:169400
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, ...	OMIM:620076
Meckel Syndrome, Type 8	Polydactyly, Talipes equinovarus, Cleft palate, Cleft upper lip	OMIM:613885
Aredyld Syndrome	Mandibular prognathia, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Abnormal pelvic ...	ORPHA:1133
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Narrow chest	ORPHA:1861
Fg Syndrome Type 1	Limited elbow extension and supination, Finger syndactyly, Broad toe, Progressive flexion contrac...	ORPHA:93932
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Frontal bossing, Short metacarpal, Cloverleaf skull, Limited elbow movement, Craniosynostosis, Pr...	ORPHA:508533
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Hypoplastic ilia...	OMIM:187600
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones,...	OMIM:616300
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Rickets of the...	ORPHA:289176
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border, High palate...	ORPHA:544254
20P13 Microdeletion Syndrome	Finger syndactyly, Wide anterior fontanel, Polydactyly, Clinodactyly, Brachydactyly	ORPHA:313781
Hypertrichosis Cubiti	Joint hyperflexibility, Abnormality of the elbow, Rhizomelia, Micromelia	ORPHA:2220
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Metaphyseal widening, Multiple joint dislocation, Arachn...	ORPHA:536467
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Brachycephaly, Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Sh...	ORPHA:95699
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint laxity, Microretrognathia, Scapular winging, Single transverse palmar crease, Micromelia, M...	OMIM:618870
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
3P25.3 Microdeletion Syndrome	Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fin...	ORPHA:435638
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing...	OMIM:268305
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Ivic Syndrome	Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad...	ORPHA:2307
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,...	ORPHA:958
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Abnormal dental enamel morphology, Highly arched eye...	ORPHA:3253
Mucopolysaccharidosis Type 4	Bowing of the long bones, Coxa valga, Short thorax, Abnormal rib morphology, Genu valgum, Pectus ...	ORPHA:582
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Micromelia, Genu valgum, Joint hyperflexibility	ORPHA:1035
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Pectus carinatum, Reduce...	ORPHA:2911
Pseudoaminopterin Syndrome	Frontal bossing, Brachydactyly, Overlapping toe, Single transverse palmar crease, Sagittal cranio...	ORPHA:221120
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Pect...	OMIM:225500
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Atelosteogenesis, Type Iii	Radial bowing, Rhizomelia, Sandal gap, Elbow dislocation, Tombstone-shaped proximal phalanges, Wi...	OMIM:108721
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Brachydactyly, Inguinal hernia, Abnormal hair pattern, Cari...	ORPHA:1786
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the...	ORPHA:1788
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial h...	ORPHA:1120
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Plagiocephaly, Craniosynostosis, Brachydactyly	ORPHA:457193
Joubert Syndrome 23	Polydactyly	OMIM:616490
Proximal 16P11.2 Microdeletion Syndrome	Platybasia, Hand polydactyly, Midface retrusion, Craniosynostosis	ORPHA:261197
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ...	ORPHA:950
Braddock-Carey Syndrome 2	Wide mouth, Clinodactyly, Pierre-Robin sequence, Cleft palate	OMIM:619981
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Narrow mouth, Mi...	ORPHA:1307
Suleiman-El-Hattab Syndrome	Thin upper lip vermilion, Single transverse palmar crease, Thick lower lip vermilion, Downturned ...	OMIM:618950
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental enamel m...	ORPHA:1458
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Micrognathia, Pectus excavatum, Abnormal rib morphology, Fused cerv...	ORPHA:2522
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cleft lip, Cleft palate	OMIM:612370
Orofaciodigital Syndrome Type 2	Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tibia, Finger syn...	ORPHA:2751
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Broad hallux, Shortening of all distal phalanges of the fingers, Plagiocephaly, Left unicoronal s...	OMIM:614749
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol...	ORPHA:2876
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short...	OMIM:169550
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Brachycephaly, Bilateral talipes eq...	OMIM:618142
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Cleft palate	OMIM:217150
Hypomelia With Mullerian Duct Anomalies	Postaxial hand polydactyly, Split hand	OMIM:146160
Hypomandibular Faciocranial Dysostosis	Trigonocephaly, Brachycephaly, Craniosynostosis, Midface retrusion	ORPHA:1790
Bardet-Biedl Syndrome 19	Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals	OMIM:615996
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Osteoporosis, Brachycephaly, Ankle clonus, Metopic synostosis...	OMIM:615398
Craniofrontonasal Syndrome	Joint laxity, Frontal bossing, Toe syndactyly, Broad hallux, Down-sloping shoulders, Brachycephal...	OMIM:304110
Xylt1-Cdg	Joint laxity, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles...	ORPHA:370930
Meier-Gorlin Syndrome 7	Joint laxity, 2-4 finger syndactyly, Sagittal craniosynostosis, Craniosynostosis, Aplasia/Hypopla...	OMIM:617063
Arthrogryposis Multiplex Congenita 6	Death in infancy, Death in childhood, Neonatal death, Arthrogryposis multiplex congenita, Adducte...	OMIM:619334
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Recurrent fractures, Rocker bottom foot, Micrognathia, Tibial bowing, Congenital b...	ORPHA:453510
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Syndactyly, Polydactyly	OMIM:602501
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Craniometaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Metaphyseal widening, Flared metaphysis, Abnormal pelvic girdle bone morph...	OMIM:123000
Isolated Hemihyperplasia	Myelomeningocele	ORPHA:2128
Baller-Gerold Syndrome	Limited elbow movement, Brachycephaly, Patellar hypoplasia, Hypoplasia of the ulna, Radial deviat...	OMIM:218600
15Q Overgrowth Syndrome	Turricephaly, Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnodactyly...	ORPHA:314585
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Cleft palate, Radioulnar synostosis, Short middle phalanx of the 4th finger, Overlapping fingers,...	OMIM:616738
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Pectus carinatum, Narrow chest, Short pa...	ORPHA:175
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Lateral clavicle hook, Wide anterior fontanel, Preaxial poly...	OMIM:617925
Acrocephalopolydactylous Dysplasia	Postaxial hand polydactyly, Oxycephaly, Craniosynostosis, Micromelia	OMIM:200995
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp...	ORPHA:989
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Micrognathia, Low posterior hairline, ...	ORPHA:1323
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Long palm, Arachnodactyly, Missing ribs, Abnormal rib morphology, Joint hyperflexibility, Clinoda...	ORPHA:2759
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Turricephaly, Cloverleaf skull, Craniosynostosis, Palmoplantar cutis gyrata, Palmoplantar keratod...	ORPHA:1555
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele	ORPHA:101030
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Non-midline cleft lip, Cleft palate	ORPHA:1484
Dysostosis, Stanescu Type	Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Short neck, Hyperlordosi...	ORPHA:1798
Tatton-Brown-Rahman Syndrome	Patellar subluxation, Talipes valgus, Sagittal craniosynostosis	OMIM:615879
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Multiple joint contractures, Single transverse palmar crease, Gene...	ORPHA:536471
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Joint hypermobility, Osteoporosis, Anterior plagiocephaly, Bicoronal synostosis	OMIM:619718
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Joint hypermobility, Joint stiffness, Short long bone, Short palm, Tracheobronchomalacia, Bicoron...	OMIM:619184
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia...	OMIM:613390
Thanatophoric Dysplasia Type 2	Micromelia, Short thorax, Limitation of joint mobility, Joint hyperflexibility, Narrow chest, Abn...	ORPHA:93274
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Deep philtrum, 2-3 toe s...	ORPHA:404440
3Mc Syndrome 1	Single interphalangeal crease of fifth finger, Wide anterior fontanel, Short foot, Radioulnar syn...	OMIM:257920
Mosaic Variegated Aneuploidy Syndrome 2	Frontal bossing, Rhizomelia, Single transverse palmar crease, Craniosynostosis, Dolichocephaly, C...	OMIM:614114
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, Coxa vara, Narrow c...	OMIM:119600
Isolated Klippel-Feil Syndrome	Abnormal rib morphology, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Sprengel ...	ORPHA:2345
Mucolipidosis Ii Alpha/Beta	Osteopenia, Metaphyseal widening, Split hand, Flat acetabular roof, Flared iliac wing, Trigonocep...	OMIM:252500
Shprintzen-Goldberg Syndrome	Osteopenia, Frontal bossing, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, C...	ORPHA:2462
Hypocalcemic Vitamin D-Dependent Rickets	Thin bony cortex, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorptio...	ORPHA:289157
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi...	OMIM:114300
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Craniosynostosis, Unilateral brachydactyly, Plagiocephaly, Aplasia/Hypoplasia involvi...	ORPHA:1521
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con...	OMIM:271640
Chromosome 3Pter-P25 Deletion Syndrome	Prominent metopic ridge, Flat occiput, Overlapping toe, Postaxial polydactyly, Tapered finger, Br...	OMIM:613792
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Craniosynostosis, Long...	OMIM:616914
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Renpenning Syndrome	Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodacty...	ORPHA:3242
Rhizomelic Chondrodysplasia Punctata, Type 2	Short humerus, Inguinal hernia, Rhizomelia, Micrognathia, Flexion contracture, Coronal cleft vert...	OMIM:222765
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short hallux, Campto...	ORPHA:90652
Biemond Syndrome Type 2	Preaxial polydactyly	ORPHA:141333
3Mc Syndrome	Craniosynostosis, Hip dislocation, Limited pronation/supination of forearm, Radioulnar synostosis...	ORPHA:293843
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Spina bifida occulta, Shoulder muscle hypoplasia	OMIM:184400
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Limitation of joint mobility, Abnormal rib morphology, Pectus carinatu...	ORPHA:3068
Image Syndrome	Metaphyseal dysplasia, Micromelia	ORPHA:85173
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f...	OMIM:272460
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Talipes equinovarus, Absent phalangeal crease, Tarsal synostosis, Cleft palate	OMIM:618469
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Hypoplastic ischia	OMIM:616910
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Micrognathia, Short long bone, Talipes equinovarus, Neonata...	OMIM:224410
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Short metatarsal, Clinodactyly of the 5th finger, Short phalanx of finger, Broad meta...	OMIM:266920
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Cleft lip, Clinodactyly, Cleft palate	OMIM:614838
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Nablus Mask-Like Facial Syndrome	Frontal bossing, Sandal gap, Single transverse palmar crease, Craniosynostosis, Tapered finger, S...	OMIM:608156
Schisis Association	Encephalocele, Anencephaly, Spina bifida	ORPHA:63862
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Distal clavicular thinning, Micromelia, Bell-shaped thorax, Narrow chest, Short...	OMIM:600092
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi...	OMIM:308050
Mucopolysaccharidosis, Type Iva	Joint laxity, Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubular bones, ...	OMIM:253000
Mucopolysaccharidosis, Type Ivb	Joint laxity, Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubular bones, ...	OMIM:253010
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Clinodactyly of the 5th finger, F...	ORPHA:193
Kagami-Ogata Syndrome	Long clavicles, Coxa valga, Micrognathia, Long fingers, Flexion contracture, Thin ribs, Bell-shap...	OMIM:608149
Scarf Syndrome	Joint hyperflexibility, Short sternum, Craniosynostosis	ORPHA:3134
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Joint hyperflexibility	ORPHA:2314
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Abnormal rib morphology,...	ORPHA:2769
Aymé-Gripp Syndrome	Prominent metopic ridge, Rocker bottom foot, Craniosynostosis, Tapered finger, Limitation of join...	ORPHA:1272
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Small hand, Abnormal rib morphology, Short foot, Spina bifida occulta, Thickened cort...	ORPHA:488434
Autosomal Dominant Spondylocostal Dysostosis	Missing ribs, Short thorax, Abnormal rib morphology, Posterior rib fusion, Spina bifida occulta	ORPHA:1797
Fibrous Dysplasia Of Bone	Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Abn...	ORPHA:249
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Coxa...	OMIM:271510
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Phocomelia, Split hand, Foot polydactyly, Duodenal atresia	ORPHA:3004
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia	ORPHA:79107
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Hall-Riggs Syndrome	Joint stiffness, Abnormal epiphysis morphology, Limb undergrowth, Abnormal metaphysis morphology,...	ORPHA:2107
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Joint laxity, Microretrognathia, Short 4th metacarpal, Short clavicles	OMIM:606220
Cranioectodermal Dysplasia 1	Joint laxity, Frontal bossing, Brachydactyly, Broad toe, Rhizomelia, Single transverse palmar cre...	OMIM:218330
15q26 overgrowth syndrome	Long toe, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Tapered finger, Abnormal toe...	DECIPHER:81
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Joint laxity, Toe syndactyly, Single transverse palmar crease, Craniosynostosis, 4-5 toe syndacty...	OMIM:300707
Joubert Syndrome 16	Polydactyly	OMIM:614465
Pycnodysostosis	Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Osteolyt...	OMIM:265800
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Au-Kline Syndrome	Prominent metopic ridge, Overlapping toe, Craniosynostosis, Sagittal craniosynostosis, Postaxial ...	OMIM:616580
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, Craniosynostosis, Abnormality of thu...	ORPHA:235
Intellectual Developmental Disorder, Autosomal Dominant 57	Craniosynostosis, Contracture of the proximal interphalangeal joint of the 4th finger, Absent fou...	OMIM:618050
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Central Y-shaped metacarpal, Preaxial pol...	ORPHA:2754
Joubert Syndrome 7	Postaxial hand polydactyly, Ataxia, Postaxial polydactyly, Genu valgum	OMIM:611560
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Cupped r...	ORPHA:1145
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Bowing of the legs, Short toe, Short thorax, Broad palm, Short foot, Short ...	OMIM:269860
Meier-Gorlin Syndrome 1	Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, Pectus carinatum, C...	OMIM:224690
Distal Triplication 15Q	Flexion contracture, Arachnodactyly, Craniosynostosis, Camptodactyly	ORPHA:314588
Carpenter Syndrome 2	Single transverse palmar crease, Preaxial polydactyly, Brachycephaly, Coxa vara, Knee flexion con...	OMIM:614976
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Clinodactyly of ...	ORPHA:1106
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Cerebrooculonasal Syndrome	Frontal bossing, Craniosynostosis, Proboscis, Postaxial polydactyly, Postaxial hand polydactyly, ...	OMIM:605627
3Mc Syndrome 2	Craniosynostosis, Limited elbow movement, Hip dislocation, Radioulnar synostosis, Skull asymmetry...	OMIM:265050
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Cleft palate, Short 5th finger, Polydactyly, Ectrodactyly, Clinodactyly of the 5th fi...	ORPHA:397590
Aase-Smith Syndrome I	Slender finger, Open mouth, Talipes equinovarus, Cleft palate	OMIM:147800
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Brachydactyly, Dental crowding, Cleft soft palate, Abnormality of the d...	OMIM:616331
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Recurrent fractures, Micrognathia, Abnormal rib mo...	ORPHA:2050
Cat-Eye Syndrome	Hip dysplasia, Abnormal rib morphology	ORPHA:195
Otosclerosis 10	Otosclerosis	OMIM:615589
Spondylocostal Dysostosis 5	Vertebral fusion, Missing ribs, Pectus carinatum, Posterior rib fusion, Supernumerary ribs	OMIM:122600
Osteopetrosis, Autosomal Dominant 1	Abnormal pelvic girdle bone morphology, Abnormality of the vertebral column, Mandibular pain, Thi...	OMIM:607634
Nephrotic Syndrome, Type 11	Arachnodactyly, Cleft lip, Partial duplication of thumb phalanx, Cleft palate, High palate, Clino...	OMIM:616730
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Micromelia, Non-midline cleft lip, Cleft palate, High palate, Abnormal e...	ORPHA:1784
Congenital Fibrinogen Deficiency	Abnormal bleeding, Tachycardia, Internal hemorrhage, Prolonged prothrombin time, Clubbing of fing...	ORPHA:335
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine...	OMIM:200990
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Clinodactyly, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Abnormal vertebral mo...	ORPHA:93315
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D...	OMIM:263520
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of the...	OMIM:609638
Infantile Systemic Hyalinosis	Osteopenia, Camptodactyly of finger, Micromelia, Osteomalacia, Recurrent fractures, Joint stiffne...	ORPHA:2176
Musculocontractural Ehlers-Danlos Syndrome	Recurrent joint dislocation, Decreased palmar creases, Craniosynostosis, Tapered finger, Generali...	ORPHA:2953
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplas...	OMIM:276820
Hyperparathyroidism, Transient Neonatal	Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Undulate ribs, Femoral bowing, T...	OMIM:618188
Beare-Stevenson Cutis Gyrata Syndrome	Cloverleaf skull, Flat occiput, Overlapping toe, Craniosynostosis, Palmoplantar cutis laxa, Limit...	OMIM:123790
Glutamine Deficiency, Congenital	Neonatal death, Flexion contracture, Micromelia, Camptodactyly	OMIM:610015
Microphthalmia, Syndromic 11	Cleft palate, Cleft upper lip	OMIM:614402
Retinitis Pigmentosa 89	Esophageal varix, Postaxial polydactyly	OMIM:618955
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Narrow mouth, Calcaneovalgus ...	OMIM:615065
Slc39A8-Cdg	Osteopenia, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous synd...	ORPHA:468699
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Arterial Tortuosity Syndrome	Arachnodactyly, Long palm, Craniosynostosis, Rocker bottom foot, Coxa valga, Avascular necrosis o...	ORPHA:3342
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi...	ORPHA:93317
Joubert Syndrome 37	Frontal bossing, Prominent metopic ridge, Postaxial polydactyly, Joint hypermobility	OMIM:619185
Faciocardiomelic Syndrome	Osteopenia, Micrognathia, Slender long bone, Polydactyly, Narrow chest, Hypoplastic pelvis, Thin ...	OMIM:612731
Frontonasal Dysplasia 2	Craniosynostosis, Parietal foramina, Brachycephaly, Anterior plagiocephaly, Calvarial skull defect	OMIM:613451
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Short palm, Small hand, Short foot, Cutaneous finger syndactyly, Talipes equinovarus, Hypoplastic...	OMIM:235510
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Small cervical vertebral bodies, Abnormal acetabulum morphology, Long clavicles, Postaxial polyda...	ORPHA:397715
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Thenar muscle atrophy...	ORPHA:2463
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Mic...	OMIM:311900
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contra...	OMIM:601559
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Basal Cell Nevus Syndrome 1	Vertebral fusion, Down-sloping shoulders, Palmar pits, Irregular ossification of hand bones, Abno...	OMIM:109400
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Micrognathia, Flexion contracture, Tibial bowing, Narrow chest, ...	ORPHA:96334
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short palm, Large iliac win...	ORPHA:198
Rhombencephalosynapsis	Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Polydact...	ORPHA:59315
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short neck, Fi...	OMIM:614800
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Bowing of the legs, Enamel hypomineralization, Spinal canal stenosi...	OMIM:307800
Marshall-Smith Syndrome	Hallux valgus, Frontal bossing, Prominent fingertip pads, Decreased hip abduction, Large sternal ...	OMIM:602535
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Thoracolumbar kyphosis, Coxa valga, Hypoplastic vertebral bodies, Limb undergrow...	OMIM:230600
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Rhizomelia, Single transverse palmar crease, Micrognathia, Square...	OMIM:611209
Wildervanck Syndrome	Meningocele	ORPHA:3456
Lethal Congenital Contracture Syndrome 1	Neonatal death, Arthrogryposis multiplex congenita, Abnormal thorax morphology, Micrognathia	OMIM:253310
Cranioectodermal Dysplasia 2	Joint laxity, Frontal bossing, Syndactyly, Cloverleaf skull, Rhizomelia, Craniosynostosis, Postax...	OMIM:613610
Scarf Syndrome	Coronal craniosynostosis, Short sternum, Lambdoidal craniosynostosis	OMIM:312830
Paternal Uniparental Disomy Of Chromosome 1	Recurrent fractures, Craniosynostosis	ORPHA:251004
Caudal Duplication	Myelomeningocele, Spina bifida	ORPHA:1756
Osteopetrosis, Autosomal Dominant 2	Mandibular osteomyelitis, Abnormality of the vertebral endplates, Abnormal pelvic girdle bone mor...	OMIM:166600
Pediatric-Onset Graves Disease	Small anterior fontanelle, Craniosynostosis	ORPHA:525731
Osteogenesis Imperfecta, Type Xv	Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Thin ribs	OMIM:615220
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Short neck, Kyphoscoliosis, Sparse eyebrow, ...	OMIM:302960
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Join...	OMIM:268310
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Camptodactyly of finger, Short thorax, Rib fus...	ORPHA:2311
Otosclerosis 8	Otosclerosis	OMIM:612096
Otosclerosis 3	Otosclerosis	OMIM:608244
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Osteoporosis, Narrow chest, Br...	ORPHA:1517
Parietal Foramina With Cleidocranial Dysplasia	Short clavicles	OMIM:168550
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal rib morphology, Sandal gap, Sprengel anomaly, Brachydactyly	ORPHA:2180
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Craniosynostosis, Joint stiffness, Cranial hyperostosis, Osteolysis, Br...	ORPHA:309282
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Micrognathia, Missing ribs, Abnormal rib morphology, Aplasia/Hypop...	ORPHA:3301
Three M Syndrome 2	Scapular winging, Short thorax, Pectus carinatum, Thin ribs, Slender long bone, Short 5th finger,...	OMIM:612921
Culler-Jones Syndrome	Cleft palate, Postaxial polydactyly, Cleft upper lip	OMIM:615849
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93259
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A...	ORPHA:570
Spondylocostal Dysostosis 1, Autosomal Recessive	Vertebral fusion, Block vertebrae, Rib fusion, Death in infancy	OMIM:277300
Sclerosteosis 1	Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Facial palsy secondary to...	OMIM:269500
Trisomy 8Q	Camptodactyly of finger, Non-midline cleft lip, Orofacial cleft, Cleft palate, Deep palmar crease...	ORPHA:1752
Opsismodysplasia	Short metacarpal, Rhizomelia, Anterior rib cupping, Hypoplasia of the odontoid process, Squared i...	OMIM:258480
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse...	OMIM:607323
Shwachman-Diamond Syndrome 1	Anterior rib cupping, Metaphyseal sclerosis, Metaphyseal chondrodysplasia, Metaphyseal widening, ...	OMIM:260400
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Hypoplastic iliac wing, Sparse hair...	OMIM:139210
Kinsship Syndrome	Osteopenia, Death in infancy, Single transverse palmar crease, Coxa valga, Micrognathia, Hip disl...	OMIM:619297
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate	ORPHA:2736
Macrodactyly	Macrodactyly	OMIM:155500
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Micrognathia, Mesomelia, Camptodactyly, Prominent fingertip pads, Clino...	OMIM:618529
Orofaciodigital Syndrome I	Syndactyly, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumerary ...	OMIM:311200
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro...	ORPHA:2519
Humero-Radial Synostosis	Meningocele	ORPHA:3265
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Dental malocclusion, Fine hair, Abnormal pelvic girdle bone morphology, Cl...	ORPHA:3079
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Micrognathia, Femoral bowing, Short long bone, Broad ribs, Talipe...	OMIM:617022
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Mucolipidosis Type Ii	Hip contracture, Prominent metopic ridge, Craniosynostosis, Limited wrist movement, Limitation of...	ORPHA:576
Harrod Syndrome	Arachnodactyly, Kyphosis, Dental malocclusion, Abnormal shoulder morphology, Abnormal pelvic gird...	ORPHA:2115
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus...	ORPHA:2215
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Lymphangiectasia, Intestinal	Stillbirth, Prominent floating ribs	OMIM:152800
Thoraco-Abdominal Enteric Duplication	Meningocele	ORPHA:1759
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla,...	ORPHA:245
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Micrognathia, Flexion contracture, Increased susceptibility to fractures, Thin ...	OMIM:312150
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Missing ribs, Micrognathia, Split h...	OMIM:200980
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Joint laxity, Overlapping toe, Single transverse palmar crease, Pectus excavatum, Flexi...	ORPHA:254528
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Vertebral fusion, Overlapping toe, Craniosynostosis, Lon...	OMIM:213980
Cartilage-Hair Hypoplasia	Joint laxity, Metaphyseal dysplasia, Flaring of lower rib cage, Hypoplasia of the odontoid proces...	OMIM:250250
Sponastrime Dysplasia	Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax...	ORPHA:93357
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly	OMIM:611134
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the zygomatic bone	ORPHA:3074
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia	OMIM:112310
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
Distal 17P13.1 Microdeletion Syndrome	Arachnodactyly, Limited elbow movement, Abnormal hand morphology, Hypoplasia of the zygomatic bon...	ORPHA:319171
Melnick-Needles Syndrome	Short humerus, Hypoplastic scapulae, Coxa valga, Pectus excavatum, Micrognathia, Flared metaphysi...	OMIM:309350
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Brachydactyly, Synophrys, Genu valgum, Hypoplasia of the zygomatic bone, Abnormal metacarpal morp...	ORPHA:1295
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Severe Congenital Nemaline Myopathy	Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Arthrogr...	ORPHA:171430
Hartsfield Syndrome	Craniosynostosis, Ectrodactyly, Hypoplasia of the frontal bone, Syndactyly	OMIM:615465
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Coxa vara, Pectus carinatum, Wrist flexion contracture, Death in infanc...	ORPHA:800
Raine Syndrome	Death in infancy, Bowing of the long bones, Increased bone mineral density, Micromelia, Micrognat...	OMIM:259775
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patell...	OMIM:114290
Prolidase Deficiency	Arachnodactyly, Micrognathia, Carious teeth, Low anterior hairline, Genu valgum, Palmoplantar ker...	ORPHA:742
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Joint laxity, Prominent metopic ridge, Sagittal craniosynostosis, Craniosynostosis, P...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Joint laxity, Prominent metopic ridge, Sagittal craniosynostosis, Craniosynostosis, P...	ORPHA:352665
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Prominent metopic ridge, Multiple joint contractures, Camptodactyly of fin...	ORPHA:468631
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies	OMIM:307500
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebrae, Flaring of rib cage...	OMIM:612852
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Overlapping toe, Craniosynostosis, Tapered finger, Flexion contracture, Small hand, Brachycephaly...	OMIM:309590
Stüve-Wiedemann Syndrome	Osteopenia, Bowing of the long bones, Camptodactyly of finger, Micromelia, Recurrent fractures, M...	ORPHA:3206
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Small hand, Short foot, Short palm	ORPHA:238750
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi...	OMIM:210710
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Craniosynostosis, Aplastic clavicle, Elbow dislocation, Patellar aplasia...	ORPHA:2554
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Micrognathia, Wide anterior fontanel, Short toe, Limb undergrowth, Shor...	OMIM:225410
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage	ORPHA:49566
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Micrognathia, Flexion contracture, Increased susceptibility to fractures, Thin ...	OMIM:253290
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly	ORPHA:1908
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Prominent metopic ridge, Craniosynostosis, Plagiocephaly, Hip dysplasia	ORPHA:453499
Van Maldergem Syndrome 1	Osteopenia, Joint laxity, Short fourth metatarsal, Tracheomalacia, Micrognathia, Wide anterior fo...	OMIM:601390
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Frontal bossing, Craniosynostosis, Tapered finger, Scaphocephaly, Small hand, Hip dysplasia, Dela...	OMIM:620005
Trisomy 1Q	Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydac...	ORPHA:261344
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome	Joint laxity, Craniosynostosis, Tracheomalacia	ORPHA:412069
Radio-Renal Syndrome	Micromelia, Micrognathia, Hypoplasia of the radius, Abnormality of the elbow, Abnormal rib morpho...	ORPHA:3015
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Flexion contracture, Narrow chest, Talipes equinovarus, Death in childhood, Li...	OMIM:619124
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:615989
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Multiple rib fractures, Death in infancy, Femur fracture, Os...	OMIM:612301
Say-Barber-Miller Syndrome	Craniosynostosis, Hip dislocation, Elbow flexion contracture, Patellar hypoplasia, Knee flexion c...	ORPHA:3132
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius	ORPHA:1765
Occipital Horn Syndrome	Joint laxity, Short humerus, Pelvic bone exostoses, Coxa valga, Broad clavicles, Capitate-hamate ...	OMIM:304150
Osteogenesis Imperfecta	Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morpholo...	ORPHA:666
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Micrognathia, Flexion contracture, Progressive clavicular acroosteolysi...	OMIM:608612
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, Abnormal ...	ORPHA:2879
Dpm1-Cdg	Sandal gap, Micrognathia, Knee flexion contracture, Camptodactyly, Limb undergrowth, Long hallux	ORPHA:79322
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Craniosynostosis, Upper limb undergrowth, Brachycephaly, Slender long bone, Joint hyp...	ORPHA:369837
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Limb undergrowt...	OMIM:617809
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C...	ORPHA:2636
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol...	ORPHA:2658
Camurati-Engelmann Disease	Abnormal tibia morphology, Abnormal femur morphology, Cortical thickening of long bone diaphyses,...	ORPHA:1328
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Low posterior hairline, Genu valgum, Umbilical hernia, Hypoplasia of the z...	ORPHA:1778
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Joint stiffness, Micrognathia, Split hand, Abnormal rib morpho...	ORPHA:1300
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Joint stiffness, Genu valgum, Broad ribs, Abnormal metaphysis morphology	ORPHA:583
Noonan Syndrome 3	Frontal bossing, Sagittal craniosynostosis, Scaphocephaly, Dolichocephaly, Left unilambdoid synos...	OMIM:609942
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Os...	ORPHA:667
Van Maldergem Syndrome 2	Osteopenia, Joint laxity, Short fourth metatarsal, Ulnar deviation of the hand, Micrognathia, Wid...	OMIM:615546
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Micrognathia, Pos...	OMIM:619879
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Recurrent fractures, Micrognathia, Osteoporosis, Palmoplantar hyperkeratosis, Tibi...	OMIM:601812
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, Clinodactyly of ...	ORPHA:319675
Acromelic Frontonasal Dysostosis	Syndactyly, Cleft upper lip, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia...	OMIM:603671
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han...	OMIM:146510
Mosaic Trisomy 8	Camptodactyly of finger, Micrognathia, Patellar aplasia, Abnormal rib morphology, Limitation of j...	ORPHA:96061
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Down-sloping shoulders, Coxa valga, Joint stiffness, Micrognathia, Flexion contractur...	OMIM:248370
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Wide anterior fontanel, Tibial bowing, Femoral bowing, Narrow chest, Neonatal death, ...	OMIM:616482
Trisomy 13	Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morphology, Ectr...	ORPHA:3378
Pyruvate Dehydrogenase E1-Alpha Deficiency	Limb undergrowth, Flexion contracture, Single transverse palmar crease	ORPHA:79243
7Q11.23 Microduplication Syndrome	Single transverse palmar crease, Craniosynostosis, Long fingers, Brachycephaly, Dolichocephaly, T...	ORPHA:96121
Trichothiodystrophy	Osteopenia, Joint dislocation, Increased bone mineral density, Multiple joint contractures, Crani...	ORPHA:33364
Otosclerosis 1	Otosclerosis	OMIM:166800
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Block vertebrae, Missing ribs, Pectus excavatum, Short thorax, Rib fusion, Bell...	OMIM:613686
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Adducted thumb, Micromelia, Bilateral single transverse palmar creases	ORPHA:50810
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture	OMIM:603387
Arboleda-Tham Syndrome	Frontal bossing, Brachydactyly, Sandal gap, Deviation of the hallux, Craniosynostosis, Short hall...	OMIM:616268
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Limb undergrowth, Osteopenia, Joint contracture, Hip dislocation	OMIM:618005
Orofaciodigital Syndrome Type 1	Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental...	ORPHA:2750
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Micrognathia, Flexion contracture, Knee flexion contracture, Camptod...	OMIM:265000
Bardet-Biedl Syndrome 1	Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, P...	OMIM:209900
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Postaxial polydactyly, Tapered finger, Abnormality of the dentition, Small hand, Hip dislocation,...	OMIM:300968
Loeys-Dietz Syndrome 1	Joint laxity, Arachnodactyly, Craniosynostosis, Postaxial hand polydactyly, Talipes equinovarus, ...	OMIM:609192
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pi...	ORPHA:2886
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit...	OMIM:607932
Myotubular Myopathy With Abnormal Genital Development	Neonatal death, Death in infancy, Joint hypermobility, Thin ribs	OMIM:300219
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Carious teeth, Hypoplasia of the zygomatic bone, Abnormal hip bone morphol...	ORPHA:1110
Lethal Congenital Contracture Syndrome 5	Death in infancy, Congenital contracture, Flexion contracture, Thin ribs	OMIM:615368
Mckusick-Kaufman Syndrome	Finger syndactyly, Aganglionic megacolon, Tarsal synostosis, Postaxial hand polydactyly, Cleft pa...	ORPHA:2473
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Prominent metopic ridge, Polydactyly	ORPHA:314655
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Congenital diaphragmatic hernia, Short neck, Micrognathia, Abnormal form of the vert...	ORPHA:1834
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Flat Face-Microstomia-Ear Anomaly Syndrome	Inguinal hernia, Camptodactyly of finger, Highly arched eyebrow, Micrognathia, Sparse eyebrow, Hy...	ORPHA:1968
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Hypoplasia of the zygomatic bone, Sandal gap, Scoliosis	ORPHA:2715
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Pectus carinatum, Arthritis, Limb un...	ORPHA:1855
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Narrow chest, Short ribs	OMIM:616546
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Pectus excavatum, Osteoporosis, 2-3 toe syndactyly, Broad finger, Li...	ORPHA:488632
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur...	ORPHA:90308
Restrictive Dermopathy 2	Microretrognathia, Overtubulated long bones, Short clavicles	OMIM:619793
Loeys-Dietz Syndrome 2	Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Postaxial polyda...	OMIM:610168
3Mc Syndrome 3	Cleft upper lip, Preaxial polydactyly, Cleft palate, Radioulnar synostosis, Clinodactyly	OMIM:248340
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, B...	ORPHA:2211
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Limited elbow movement, Joint stiffness, Micrognathia, Flexion contracture, Os...	OMIM:614008
Weill-Marchesani Syndrome 1	Thin bony cortex, Joint stiffness, Broad palm, Broad phalanges of the hand, Broad ribs, Broad met...	OMIM:277600
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Loeys-Dietz Syndrome	Joint dislocation, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Joint hyperflexibility	ORPHA:60030
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Wide anterior fontanel, Sagittal craniosynostosis	OMIM:610199
Autosomal Recessive Robinow Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas...	ORPHA:1507
Caudal Regression Syndrome	Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, Hypoplastic vertebral bodies, A...	ORPHA:3027
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Broad hallux phalanx, Sandal gap, Single transverse palmar crease, Craniosynostosis, ...	ORPHA:363611
Gm1 Gangliosidosis	Camptodactyly of finger, Joint stiffness, Abnormal diaphysis morphology, Abnormal epiphysis morph...	ORPHA:354
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Single transverse palmar crease, Cleft palat...	OMIM:247200
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulder flexion contracture,...	OMIM:620369
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab...	OMIM:118100
Hajdu-Cheney Syndrome	Short neck, Micrognathia, Synophrys, Low anterior hairline, Coarse hair, Hernia, Generalized hirs...	ORPHA:955
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormal rib morphology, Micrognathia	OMIM:601076
Myhre Syndrome	Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Abnormal rib morphology, Abnormal epip...	ORPHA:2588
Mucopolysaccharidosis, Type Iiib	Thickened ribs, Dense calvaria, Joint stiffness	OMIM:252920
Marbach-Rustad Progeroid Syndrome	Micrognathia, Femur fracture, Short clavicles, Reduced bone mineral density	OMIM:619322
Lenz-Majewski Hyperostotic Dwarfism	Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of the midd...	OMIM:151050
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short long bone, Short ...	OMIM:617088
Prune Belly Syndrome	Pectus excavatum, Congenital hip dislocation, Abnormal rib morphology, Talipes equinovarus	ORPHA:2970
Hurler Syndrome	Abnormal clavicle morphology, Death in infancy, Camptodactyly of finger, Abnormality of the elbow...	ORPHA:93473
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Arachnodactyly, Tracheomalacia, Micrognathia, Pectus excavatum, Thora...	OMIM:300373
9Q31.1Q31.3 Microdeletion Syndrome	Small hand, Short clavicles, Tapered finger	ORPHA:401923
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse eyelashes, Micrognathia, Spars...	ORPHA:2067
Hyperlysinemia	Craniosynostosis	ORPHA:2203
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Coxa vara, Narrow pelvis bone, Joint hyperflexibility, Abnormal epiphysis morphology,...	ORPHA:2637
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Protrusio acetabuli...	ORPHA:284984
Sirenomelia	Spina bifida, Sirenomelia	ORPHA:3169
Cerebrocostomandibular Syndrome	Rib gap, Short humerus, 10 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyseal stippl...	OMIM:117650
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Palmoplantar keratoderma, Craniosynostosis	ORPHA:79396
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Cleft lip, Cleft palate, Submucous cleft of soft and hard palate, Polyd...	OMIM:301022
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Sandal gap, Abnormal dental enamel morphology, Supernumerary nipple, Abnormal fi...	ORPHA:1812
Ulnar-Mammary Syndrome	Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ...	OMIM:181450
Aspergillosis	Abnormal long bone morphology, Osteomyelitis, Abnormal rib morphology, Eosinophilia	ORPHA:1163
Otosclerosis 4	Otosclerosis	OMIM:611571
Mucopolysaccharidosis, Type Iiia	Thickened ribs, Dense calvaria, Joint stiffness	OMIM:252900
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger, Craniosynostosis	ORPHA:2136
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Frontal bossing, Craniosynostosis, Joint hypermobility	OMIM:617506
Joubert Syndrome 14	Tented upper lip vermilion, Postaxial polydactyly, Cleft palate, Short philtrum, Open mouth	OMIM:614424
Mucopolysaccharidosis, Type X	Spatulate ribs, Broad clavicles, Genu valgum, Hip dysplasia, Broad ribs, Irregular acetabular roof	OMIM:619698
Gabriele-De Vries Syndrome	Hallux valgus, Sydney crease, Sandal gap, Craniosynostosis, Patellar subluxation, Distal arthrogr...	ORPHA:506358
Ellis Van Creveld Syndrome	Micromelia, Capitate-hamate fusion, Short thorax, Genu valgum, Abnormal pelvic girdle bone morpho...	ORPHA:289
Kbg Syndrome	Syndactyly, Vertebral fusion, Single transverse palmar crease, Rib fusion, Cutaneous syndactyly, ...	OMIM:148050
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia	ORPHA:3145
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Micrognathia, Long fingers, Wide anterior...	OMIM:617746
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Sandal gap, Decreased fibular diameter, Pectus excavatum, Joint stiffness, Micrognath...	OMIM:619127
Rhabdoid Tumor	Hypertension, Internal hemorrhage	ORPHA:69077
Anophthalmia Plus Syndrome	Spina bifida	ORPHA:1104
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal rib morphology, Abnormality of the humeroulnar joint	ORPHA:2234
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Abnormal morphology of ulna, Failure to thrive in infancy, Short...	ORPHA:1340
Branchioskeletogenital Syndrome	Amelia involving the lower limbs, Craniosynostosis, Upper limb peromelia, Brachycephaly, Thickene...	ORPHA:1299
Opitz Gbbb Syndrome	Tracheomalacia, Prominent metopic ridge, Large fontanelles, Craniosynostosis	ORPHA:2745
Roberts-Sc Phocomelia Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Craniosynostosis, Ankle flexion contracture, A...	OMIM:268300
Doors Syndrome	Frontal bossing, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagittal craniosynostosis, A...	ORPHA:79500
Adnp Syndrome	Joint laxity, Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology,...	ORPHA:404448
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Joint stiffness, Hypoplasia of the odontoid process, Metaphyseal widening, ...	OMIM:253200
Brachytelephalangic Chondrodysplasia Punctata	Calcaneal epiphyseal stippling, Abnormal ossification involving the femoral head and neck, Abnorm...	ORPHA:79345
Hurler Syndrome	Hypoplasia of the femoral head, Coxa valga, Joint stiffness, Hypoplasia of the odontoid process, ...	OMIM:607014
Constricting Bands, Congenital	Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus	OMIM:217100
Mend Syndrome	Broad hallux, Overlapping toe, Long fingers, 2-3 toe syndactyly, Small anterior fontanelle, Polyd...	OMIM:300960
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced eruption of teeth,...	OMIM:615873
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thin bony cortex, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull b...	OMIM:619727
Fontaine Progeroid Syndrome	Syndactyly, Turricephaly, Craniosynostosis, Wide anterior fontanel, Brachycephaly, Deep palmar cr...	OMIM:612289
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Micrognathia, Long fi...	OMIM:617527
Zttk Syndrome	Frontal bossing, Craniosynostosis, Flexion contracture, Small hand, Short foot, Midface retrusion...	OMIM:617140
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Mosaic Trisomy 9	Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Micrognathia, Limitat...	ORPHA:99776
Toluene Embryopathy	Hypoplasia of the zygomatic bone, Micrognathia, Tapered finger	ORPHA:1920
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Plagiocephaly, Hip dysplasia, Clino...	ORPHA:457284
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ...	ORPHA:1071
Weill-Marchesani Syndrome 2	Short metacarpal, Thin bony cortex, Joint stiffness, Short metatarsal, Broad palm, Elbow flexion ...	OMIM:608328
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Abnormal rib morphology	ORPHA:2578
Koolen-De Vries Syndrome Due To A Point Mutation	Joint dislocation, Joint laxity, Hand muscle atrophy, Prominent fingertip pads, Arachnodactyly, A...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint dislocation, Joint laxity, Hand muscle atrophy, Prominent fingertip pads, Arachnodactyly, A...	ORPHA:363958
Schinzel-Giedion Midface Retraction Syndrome	Long clavicles, Increased density of long bones, Single transverse palmar crease, Wide distal fem...	OMIM:269150
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Frontal bossing, Cloverleaf skull, Arachnodactyly, Tarsal synostosis, Craniosynostosis, Rocker bo...	OMIM:201750
Degcags Syndrome	Osteopenia, Syndactyly, Toe syndactyly, Craniosynostosis, Short thumb, Preaxial hand polydactyly,...	OMIM:619488
Focal Dermal Hypoplasia	Finger syndactyly, Toe syndactyly, Abnormal palmar dermatoglyphics, Camptodactyly of finger, Spli...	ORPHA:2092
Peters-Plus Syndrome	Joint laxity, Frontal bossing, Syndactyly, Short metacarpal, Rhizomelia, Single transverse palmar...	OMIM:261540
Alagille Syndrome	Hypoplasia of the ulna, Micrognathia, Abnormal rib morphology, Clinodactyly of the 5th finger, Sp...	ORPHA:52
Proteus Syndrome	Hallux valgus, Finger syndactyly, Macrodactyly, Craniosynostosis, Joint stiffness, Metatarsus val...	ORPHA:744
Spondylocostal Dysostosis 2, Autosomal Recessive	Rib fusion	OMIM:608681
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis, Hypoplasia of the radius,...	ORPHA:3404
Mandibuloacral Dysplasia	Micrognathia, Contractures of the large joints, Osteolytic defects of the distal phalanges of the...	ORPHA:2457
Chime Syndrome	Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Osteolysis, ...	ORPHA:3474
Septopreoptic Holoprosencephaly	Abnormal rib morphology	ORPHA:280195
Congenital Sialidosis Type 2	Ataxia, Polydactyly, Dysmetria	ORPHA:93400
Camptodactyly Syndrome, Guadalajara Type 1	Spina bifida	ORPHA:1327
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Arachnodactyly, Single transverse palmar crease, Overlapping toe, Contracture of the distal inter...	ORPHA:83617
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida	ORPHA:2437
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Hip dysplasia, Postaxial polydactyly	OMIM:614576
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Elbow ...	OMIM:208150
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, El...	ORPHA:2538
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Joint hypermobility, Thin ribs	ORPHA:456328
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Pectus excavatum, Limitation of joint m...	ORPHA:2990
Sifrim-Hitz-Weiss Syndrome	Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short femoral neck, Short clavicles	OMIM:617159
Robinow Syndrome, Autosomal Dominant 1	Limited elbow extension and supination, Brachydactyly, Broad toe, Rhizomelia, Micrognathia, Pectu...	OMIM:180700
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Sacral dimple, Tapered finger, Hypoplasia of the zygoma...	OMIM:613603
Inhalational Anthrax	Internal hemorrhage, Hypotension	ORPHA:247257
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Long fingers, Ca...	OMIM:256520
Monosomy 9Q22.3	Palmar pits, Pectus excavatum, Abnormal rib morphology, Joint hyperflexibility, Polydactyly	ORPHA:77301
Restrictive Dermopathy 1	Limb joint contracture, Rocker bottom foot, Micrognathia, Thin clavicles, Ankylosis, Flexion cont...	OMIM:275210
Hydrolethalus	Postaxial hand polydactyly, Micromelia, Micrognathia	ORPHA:2189
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, Hypoplasi...	OMIM:122470
22Q11.2 Deletion Syndrome	Turricephaly, Arachnodactyly, Multiple suture craniosynostosis, Joint hyperflexibility, Arthritis...	ORPHA:567
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Dense calvaria, Joint stiffness	OMIM:252930
Joubert Syndrome 39	Joint contracture of the 5th finger, Postaxial polydactyly	OMIM:619562
Cog1-Cdg	Osteopenia, Rhizomelia, Coxa valga, Micrognathia, Rib fusion, Posterior rib gap, Flat acetabular ...	ORPHA:263508
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co...	OMIM:149730
Waardenburg Syndrome Type 1	Meningocele, Spina bifida	ORPHA:894
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Osteoporosis, Rickets, L...	ORPHA:2671
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger...	ORPHA:69085
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Flexion contracture, Thin ribs	OMIM:614833
Desmosterolosis	Increased bone mineral density, Micromelia, Micrognathia, Metatarsus adductus, Osteopetrosis	ORPHA:35107
Iniencephaly	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Pectus excavatum, Pol...	ORPHA:464306
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Rubinstein-Taybi Syndrome 1	Dental crowding, Single transverse palmar crease, High, narrow palate, High palate, Hypoplastic i...	OMIM:180849
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele	ORPHA:2003
Triploidy	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial...	ORPHA:93271
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Postaxial polydactyly	OMIM:615824
Meckel Syndrome, Type 1	Syndactyly, Bowing of the long bones, Thin upper lip vermilion, Natal tooth, Camptodactyly of fin...	OMIM:249000
Simpson-Golabi-Behmel Syndrome	Finger syndactyly, Vertebral fusion, Congenital hip dislocation, Toe syndactyly, Camptodactyly of...	ORPHA:373
Vacterl/Vater Association	Preaxial hand polydactyly, Finger syndactyly, Aplasia/Hypoplasia of the radius, Abnormal rib morp...	ORPHA:887
Fountain Syndrome	Spina bifida occulta, Spina bifida	ORPHA:3219
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hemoper...	ORPHA:99827
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Preaxial polydactyly, Cleft palate, Wide mouth, Duodenal...	OMIM:243605
Hallermann-Streiff Syndrome	Abnormality of the hand, Micrognathia, Pectus excavatum, Metaphyseal widening, Thin ribs, Slender...	OMIM:234100
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finger syndactyly, Ta...	OMIM:119500
Rabson-Mendenhall Syndrome	Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia...	ORPHA:769
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Bell-shaped thorax, Horizontal ribs, Micrognathia	OMIM:614857
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He...	ORPHA:906
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve...	ORPHA:87
Trisomy 18	Microretrognathia, Camptodactyly of finger, Postaxial hand polydactyly, Abnormal rib morphology, ...	ORPHA:3380
Neurocutaneous Melanocytosis	Meningocele	ORPHA:2481
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Miscarriage, Thin ribs	ORPHA:169189
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Joint stiffness, Achilles tendon contra...	OMIM:252940
Cerebrocostomandibular Syndrome	Hydranencephaly, Myelomeningocele, Meningocele, Spina bifida	ORPHA:1393
Gm1-Gangliosidosis, Type I	Hypoplastic vertebral bodies, Death in infancy, Thickened ribs, Joint stiffness	OMIM:230500
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Bifid distal phalanx of the thumb, Missing r...	ORPHA:97360
Bardet-Biedl Syndrome 20	Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:619471
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Palmoplantar hyperkeratosis,...	ORPHA:2907
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Osteop...	OMIM:225400
Loeys-Dietz Syndrome 3	Joint laxity, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Dolichocephaly, Osteoarthrit...	OMIM:613795
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly, Ataxia	ORPHA:163681
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Micrognathia, Mesomelia, Camptodactyly, Clinodactyly, Short phalanx of finger, Broad ...	OMIM:616894
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Missing ribs, Rib fusion, Thin ribs, Short ribs	OMIM:271520
Marshall Syndrome	Sparse eyelashes, Micrognathia, Hypoplasia of the maxilla, Sparse eyebrow, Genu valgum, Hypoplasi...	ORPHA:560
Kagami-Ogata Syndrome	Coxa valga, Micrognathia, Limitation of joint mobility, Bell-shaped thorax, Coat hanger sign of r...	ORPHA:254519
Treacher Collins Syndrome 3	Hypoplasia of the zygomatic bone, Micrognathia	OMIM:248390
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm...	OMIM:216340
Khan-Khan-Katsanis Syndrome	Frontal bossing, Postaxial polydactyly, Delayed closure of the anterior fontanelle, Joint contrac...	OMIM:618460
8Q24.3 Microdeletion Syndrome	Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Fing...	ORPHA:508488
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Camptodactyly of finger, Micromelia, Coxa valga, Elbow dislocation, Avascular ...	ORPHA:3107
Smith-Lemli-Opitz Syndrome	Finger syndactyly, Rhizomelia, Proximal placement of thumb, Micrognathia, Postaxial hand polydact...	ORPHA:818
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Tapered finger, Hip dislocation, Genu valgum, Hip dysplasia, Talipes equinovarus, Broad ribs, Bro...	OMIM:301066
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Craniofacial hyperostosis, Joint stiffness, Avascular necrosis of t...	ORPHA:581
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida	ORPHA:2839
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Hypoplastic pubic ramus, Arachnodactyly, Short hallux, Micrognath...	ORPHA:280
Fryns Syndrome	Microretrognathia, Single transverse palmar crease, Proximal placement of thumb, Rocker bottom fo...	OMIM:229850
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Meningocele	ORPHA:2031
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology	ORPHA:93941
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype...	ORPHA:340
Amish Lethal Microcephaly	Spina bifida	ORPHA:99742
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Frontal bossing, Arachnodactyly, Sagittal craniosynostosis, Absent thumb, Hyperextensible hand jo...	ORPHA:500150
Aicardi Syndrome	Block vertebrae, Missing ribs, Small hand, Rib fusion, Hip dysplasia, Supernumerary ribs, Bifid ribs	ORPHA:50
Holoprosencephaly	Omphalocele, Failure to thrive in infancy, Highly arched eyebrow, Short neck, Congenital diaphrag...	ORPHA:2162
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ...	OMIM:192350
C Syndrome	Death in infancy, Toe syndactyly, Micromelia, Micrognathia, Pectus excavatum, Limitation of joint...	ORPHA:1308
Short Stature, Microcephaly, And Endocrine Dysfunction	Limb undergrowth, Clinodactyly	OMIM:616541
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hallux valgus, Thin upper lip vermilion, Congenital hip dislocation, Overlapping toe, Postaxial p...	ORPHA:480880
Ablepharon Macrostomia Syndrome	Omphalocele, Absent eyebrow, Toe syndactyly, Camptodactyly of finger, Abnormal hair pattern, Hypo...	ORPHA:920
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele	ORPHA:1827
Floating-Harbor Syndrome	11 pairs of ribs, Joint laxity, Brachydactyly, Ivory epiphyses of the distal phalanges of the han...	OMIM:136140
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly	OMIM:219730
Pallister-Hall Syndrome	Bifid uvula, Mesoaxial polydactyly, Radial bowing, Accessory oral frenulum, Cleft lip, Microgloss...	ORPHA:672
Orofaciodigital Syndrome Xiv	Natal tooth, Broad hallux, Hamartoma of tongue, Cleft lip, Postaxial hand polydactyly, Supernumer...	OMIM:615948
Ablepharon-Macrostomia Syndrome	Ventral hernia, Absent eyebrow, Short metacarpal, Toe syndactyly, Omphalocele, Absent eyelashes, ...	OMIM:200110
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Short palm, Exaggerated median tongue furrow, Gingival overgrowth, ...	OMIM:312870
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Unsteady gait, Choreoathetosis, Polydactyly	ORPHA:17
Monosomy 9P	Proximal placement of thumb, Micrognathia, Abnormality of the tarsal bones, Postaxial hand polyda...	ORPHA:261112
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Vertebral fusion, Pseudoepiphyses of the metacarpals, Single tran...	OMIM:194190
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Hypoplasia of the zygomatic bone	ORPHA:2835
Smith-Lemli-Opitz Syndrome	Microretrognathia, Death in infancy, Overlapping toe, Micromelia, Proximal placement of thumb, Me...	OMIM:270400
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Clinodactyly of the 5th finger, Rib fusion, Tapered toe, Tapered finger	ORPHA:544488
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Palmopl...	ORPHA:2908
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Broad-based gait, Ataxia, Tapered finger, Abnormal toe morphology, Polydactyly, Ga...	ORPHA:268261
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, High palate, Syndactyly, Broad hallux, Supernumerary tooth, Talon cusp, Widened ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, High palate, Syndactyly, Broad hallux, Supernumerary tooth, Talon cusp, Widened ...	ORPHA:353277
Treacher-Collins Syndrome	Failure to thrive, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Ab...	ORPHA:861
X-Linked Mandibulofacial Dysostosis	Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the eyebrow, Micrognathia	ORPHA:1131
Neurocardiofaciodigital Syndrome	Syndactyly, Thin vermilion border, High palate, Polydactyly	OMIM:619869
Oculocerebrorenal Syndrome Of Lowe	Death in infancy, Osteomalacia, Recurrent fractures, Joint stiffness, Micrognathia, Abnormal rib ...	ORPHA:534
Lateral Meningocele Syndrome	Umbilical hernia, Meningocele	ORPHA:2789
Sotos Syndrome	Joint laxity, Hip contracture, Ankle flexion contracture, Craniosynostosis, Bilateral camptodacty...	ORPHA:821
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Coat hanger sign of ribs, Thoracic hypoplasia	ORPHA:254534
Legius Syndrome	Clinodactyly of the 5th finger, Polydactyly, Abnormal sternum morphology, Diaphyseal dysplasia	ORPHA:137605
Cerebrofaciothoracic Dysplasia	Sprengel anomaly, Rib fusion, Narrow chest, Bifid ribs	ORPHA:1394
Lateral Meningocele Syndrome	Umbilical hernia, Hydrocephalus, Meningocele	OMIM:130720
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Overlapping toe, Micrognathia, Wide anterior fontanel, Abnormal tho...	ORPHA:798
Cardiospondylocarpofacial Syndrome	Joint laxity, Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, ...	OMIM:157800
Coccidioidomycosis	Osteomyelitis, Eosinophilia, Osteolysis, Abnormal long bone morphology, Arthritis, Abnormal metac...	ORPHA:228123
Chromosome 17P13.1 Deletion Syndrome	Umbilical hernia, Hydrocephalus, Spina bifida	OMIM:613776
Aicardi Syndrome	Block vertebrae, Proximal placement of thumb, Missing ribs, Rib fusion, Supernumerary ribs, Bifid...	OMIM:304050
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intestinal malrotati...	ORPHA:2729
Restrictive Dermopathy	Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract...	ORPHA:1662
Neu-Laxova Syndrome 2	Spina bifida	OMIM:616038
Trisomy 20P	Umbilical hernia, Spina bifida	ORPHA:261318
Hellp Syndrome	Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension	ORPHA:244242
Dextrocardia	Congenital hip dislocation, Abnormal rib morphology	ORPHA:1666
Cornelia De Lange Syndrome	Toe syndactyly, Abnormal morphology of ulna, Micromelia, Proximal placement of thumb, Elbow dislo...	ORPHA:199
Pancreatic Agenesis-Holoprosencephaly Syndrome	Small for gestational age, Aplasia/Hypoplasia of the phalanges of the thumb, Hypoplasia of the zy...	ORPHA:556955
Leukocyte Adhesion Deficiency Type Ii	Limb undergrowth, Overlapping toe, Broad palm	ORPHA:99843
Waardenburg Syndrome, Type 1	Myelomeningocele, Spina bifida	OMIM:193500
Marburg Hemorrhagic Fever	Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Hyp...	ORPHA:99826
Limb Body Wall Complex	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ...	ORPHA:2369
Chilton-Okur-Chung Neurodevelopmental Syndrome	Short fourth metatarsal, Short fifth metatarsal, Single transverse palmar crease, Tapered finger,...	OMIM:619841
Vacterl With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Spina bifida	ORPHA:3412
Cloacal Exstrophy	Myelomeningocele, Spina bifida	ORPHA:93929
Microphthalmia, Syndromic 3	Vertebral fusion, Missing ribs, Rib fusion, Supernumerary ribs, Vertebral hypoplasia	OMIM:206900
Chromosome 14Q11-Q22 Deletion Syndrome	Micrognathia, Hip subluxation, Mesomelia	OMIM:613457
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Polydactyly, Osteoporosis of vertebrae, Abnormal digit morphology	ORPHA:95494
Phakomatosis Pigmentokeratotica	Spina bifida	ORPHA:2874
Townes-Brocks Syndrome	Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha...	ORPHA:857
Pseudo-Torch Syndrome 2	Thin ribs	OMIM:617397
Pagod Syndrome	Encephalocele, Meningocele, Spina bifida	ORPHA:991
Charge Syndrome	Abnormal tibia morphology, Abnormal rib morphology, Bifid femur, Abnormality of bone mineral dens...	ORPHA:138
Superficial Siderosis	Abnormal bleeding, Persistent bleeding after trauma, Internal hemorrhage, Subarachnoid hemorrhage	ORPHA:247245
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, F...	ORPHA:261537
Yellow Fever	Abnormal bleeding, Shock, Supraventricular arrhythmia, Excessive bleeding after a venipuncture, H...	ORPHA:99829
Hutchinson-Gilford Progeria Syndrome	Limitation of movement at ankles, Limited wrist movement, Coxa valga, Joint stiffness, Abnormal t...	ORPHA:740
Williams Syndrome	Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Clinodactyly ...	ORPHA:904
Nail-Patella Syndrome	Spina bifida	OMIM:161200
Floating-Harbor Syndrome	11 pairs of ribs, Short metacarpal, Brachydactyly, Avascular necrosis of the capital femoral epip...	ORPHA:2044
1P36 Deletion Syndrome	11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Rib fusion, Short foot, Hip dysplasia...	ORPHA:1606
Lathosterolosis	Meningocele	ORPHA:46059
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Deep palmar crease, Micromelia	ORPHA:1675
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Hallux valgus, Frontal bossing, Syndactyly, Ulnar deviation of the hand, Broad hallux, Long toe, ...	ORPHA:261552
Treacher Collins Syndrome 2	Microretrognathia, Retrognathia, Hypoplasia of the zygomatic bone, Micrognathia	OMIM:613717
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Micrognathia, Hypoplastic ilia, Long fingers, Flexion contr...	OMIM:264090
Leukocyte Adhesion Deficiency	Coronal craniosynostosis, Osteomyelitis	ORPHA:2968
Osteopetrosis With Renal Tubular Acidosis	Recurrent fractures, Micrognathia, Pectus excavatum, Osteopetrosis, Prominent floating ribs	ORPHA:2785
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Arthr...	ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Arthr...	ORPHA:217093
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Small for gestational age, Hitchhiker thumb, Hypoplasia of the zygomatic bone	OMIM:618500
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Camptodactyly of finger, Metatarsus adductus, Wide anterior fontanel, Rib fusio...	OMIM:607872
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Syndactyly, Postaxial polydactyly, Broad first metatarsal, Polydactyly, Neonatal deat...	OMIM:619534
Pontine Tegmental Cap Dysplasia	Rib fusion	OMIM:614688
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus	ORPHA:573278
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele	ORPHA:1010
Alagille Syndrome 1	Hypoplasia of the ulna, Abnormal rib morphology, Short distal phalanx of finger	OMIM:118450
Charge Syndrome	Hypoplasia of the ulna, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Micrognathia, Ab...	OMIM:214800
Peters Plus Syndrome	Toe syndactyly, Rhizomelia, Micromelia, Micrognathia, Short toe, Short foot, Clinodactyly of the ...	ORPHA:709
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Spina bifida	ORPHA:508498
Jacobsen Syndrome	Spina bifida	ORPHA:2308
Thrombocytopenia-Absent Radius Syndrome	Spina bifida	OMIM:274000
Fanconi Anemia	Umbilical hernia, Hydrocephalus, Spina bifida	ORPHA:84
Microphthalmia, Syndromic 1	Syndactyly, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Pectus excavatum, Short clav...	OMIM:309800
Tuberous Sclerosis Complex	Noncommunicating hydrocephalus, Hypertension, Internal hemorrhage	ORPHA:805
Knobloch Syndrome 1	Occipital meningocele, Occipital encephalocele, Spina bifida occulta	OMIM:267750
Arima Syndrome	Occipital meningocele	OMIM:243910
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Spina bifida	OMIM:619480
Marfan Syndrome	Meningocele	ORPHA:558
Otopalatodigital Syndrome, Type Ii	Umbilical hernia, Hydrocephalus, Stillbirth, Spina bifida	OMIM:304120
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Vascular Ehlers-Danlos Syndrome	Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Renovascular hypertensi...	ORPHA:286

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Twist1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Twist1.

No publications found that use IMPC mice or data for Twist1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Twist1^{em1(IMPC)Rbrc}	Whole-gene deletion	Mice
Twist1^{tm413867(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Twist1 MGI:98872

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Pathology and Tissue Collection

Combined SHIRPA and Dysmorphology

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Twist1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data