Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
T-box 2
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tbx2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Tbx2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Narrow palate, Contracture of the proximal interphalangeal joint of the 4th finger, Cleft palate,... OMIM:618223

The table below shows human diseases predicted to be associated to Tbx2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormal finger morphology OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Polydactyly, Postaxial, Type A9
Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:618219
Polydactyly, Postaxial, Type A10
Postaxial polydactyly type A, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:618498
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Polydactyly, Preaxial I
Preaxial hand polydactyly, Radial deviation of thumb terminal phalanx, Partial duplication of thu... OMIM:174400
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Syngnathia
Cleft palate OMIM:119550
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... OMIM:113100
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate, Finger aplasia OMIM:172880
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1566
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Clinodactyly of the 5th finger, Glossoptosis,... OMIM:311895
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Syndactyly Type 1
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... ORPHA:93402
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... OMIM:618167
Cleft Palate, Deafness, And Oligodontia
Sandal gap, Cleft soft palate, Short hallux, Agenesis of permanent teeth, Oligodontia of primary ... OMIM:216300
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Syndactyly-Polydactyly-Earlobe Syndrome
1-2 toe complete cutaneous syndactyly, Broad toe, Bifid distal phalanx of toe, Preaxial hand poly... OMIM:186350
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa... OMIM:174200
Scalp Defects And Postaxial Polydactyly
Postaxial polydactyly type A OMIM:181250
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Multiple Synostoses Syndrome 3
Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,... OMIM:612961
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal hip bone morphology, Cleft palate, Upper limb phocomelia, Syndactyly ORPHA:294975
Ectrodactyly-Polydactyly Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... ORPHA:1892
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormal thumb morphology, Partial duplication of the distal phalanx of the hallux, Bifid uvula, ... ORPHA:2669
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ... OMIM:617642
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Partial duplication of the distal phalanx of the hallux, Short distal phalanx of hallux, Bifid uv... OMIM:256200
Sprengel Deformity
Abnormality of the shoulder girdle musculature, Cleft palate, Shoulder muscle hypoplasia, Abnorma... ORPHA:3181
Acropectoral Syndrome
Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx OMIM:605967
Ectrodactyly-Polydactyly
Split foot, Split hand, Postaxial hand polydactyly OMIM:225290
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Jawad Syndrome
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... OMIM:251255
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Short 5th finger, Postaxial hand polydactyly, Short thumb, Short 2nd toe OMIM:176305
Uvula, Bifid
Bifid uvula OMIM:192100
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Disorganization, Mouse, Homolog Of
Cleft upper lip, Hand polydactyly, Cleft palate, Limb duplication, Hip dislocation OMIM:223200
Nuchal Bleb, Familial
Cystic hygroma, Stillbirth, Hydrops fetalis, Fetal cystic hygroma OMIM:257350
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... OMIM:608180
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Polydactyly, Postaxial, With Progressive Myopia
Postaxial hand polydactyly OMIM:174310
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Glossoptosis, Abnormality of the ... ORPHA:3104
Split-Foot Malformation With Mesoaxial Polydactyly
Split hand, 4-5 toe syndactyly, Split foot, 1-2 toe syndactyly, Mesoaxial hand polydactyly OMIM:616890
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Cleft palate, Foot oli... OMIM:183600
Cleft Soft Palate
Cleft soft palate OMIM:119570
Holzgreve Syndrome
Cleft upper lip, Hand polydactyly, Cleft palate OMIM:236110
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Cleft palate, Bowing... OMIM:249710
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Split-Foot Deformity With Mandibulofacial Dysostosis
Split foot, Toe syndactyly, Cleft palate, Split hand OMIM:183700
Pierre Robin Syndrome
Pierre-Robin sequence, Cleft palate, Glossoptosis OMIM:261800
Fetal Parvovirus Syndrome
Hydrops fetalis, Ascites, Hypertrophic cardiomyopathy, Increased nuchal translucency ORPHA:295
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th... ORPHA:488232
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Broad palm, S... OMIM:611263
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Cleft palate, Toe syndac... DECIPHER:46
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis ORPHA:718
Trochlea Of The Humerus, Aplasia Of
Cleft palate, Short humerus OMIM:191000
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Indomethacin Embryofetopathy
Hydrops fetalis, Cardiomyopathy, Premature birth, Atrial septal defect, Ventricular septal defect... ORPHA:1909
Bifid Uvula
Cleft lip, Bifid uvula, Submucous cleft soft palate ORPHA:99771
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Clinodactyly, Postaxial polydactyly OMIM:615984
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion, Fetal ascites OMIM:619462
2q33.1 deletion syndrome
Cleft palate, High palate DECIPHER:51
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Cleft palate OMIM:612913
Cleft Palate, Isolated
Anterior open-bite malocclusion, Gingival overgrowth, Cleft palate, Increased overbite OMIM:119540
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Single transverse palmar crease, Absent ... OMIM:176240
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Postaxial polydactyly, Broad hallux, Dou... OMIM:217095
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Cleft hard palate, Fixed elbow flexion, Genu valgum, Rhizomelia, Small epiphy... ORPHA:166016
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... ORPHA:2919
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Upper limb undergrowth, Hydrops fetalis, Polyhydramnios, Nonimmune hydrops fetalis OMIM:613124
Orofaciodigital Syndrome Viii
Polydactyly, High palate, Cleft palate, Syndactyly, Short tibia, Median cleft upper lip OMIM:300484
Chondrodysplasia, Blomstrand Type
Stillbirth, Polyhydramnios, Hydrops fetalis, Flared metaphysis, Micromelia, Preductal coarctation... OMIM:215045
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hydrops fetalis, Finger aplasia, Neonatal death, Endocardial fibroelastosis OMIM:276822
Crossed Polysyndactyly
Finger syndactyly, Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb ORPHA:2935
Bardet-Biedl Syndrome 19
Y-shaped metacarpals, Partial atrioventricular canal defect, Postaxial polydactyly, Patent ductus... OMIM:615996
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Cleft soft pa... ORPHA:2756
Van Der Woude Syndrome 1
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit OMIM:119300
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Postaxial polydac... OMIM:617927
Triphalangeal Thumbs With Brachyectrodactyly
Triphalangeal thumb, Short 2nd finger, Split hand, Split foot, Brachydactyly, Short 3rd toe OMIM:190680
Boomerang Dysplasia
Polyhydramnios, Abnormal tibia morphology, Hydrops fetalis, Abnormal femur morphology, Abnormal m... ORPHA:1263
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, High, narrow palate, Hypodontia, Glossoptosis, Tapered finger, Camptodactyl... ORPHA:3201
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Preaxial foot polydactyly, Postaxial hand polydactyly ORPHA:2091
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Oligodactyly, Ectrodactyly, Abnormal metacarpal morphology ORPHA:2730
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... OMIM:618773
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Single umbilical artery, Polyhydramnios, Abnormal tricuspid valve morphology, Hydrops fetalis, Ab... ORPHA:3405
Arthrogryposis, Distal, Type 1C
Rocker bottom foot, Thin vermilion border, Clinodactyly of the 5th finger, Shoulder flexion contr... OMIM:619110
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius, Cleft upper lip, Cleft palate OMIM:179400
Orofaciodigital Syndrome Iv
Short finger, Short tibia, High palate, Tongue nodules, Foot polydactyly, Postaxial polydactyly, ... OMIM:258860
Acropectorovertebral Dysplasia
High, narrow palate, Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of car... ORPHA:957
Aphalangy-Syndactyly-Microcephaly Syndrome
Abnormal metacarpal morphology, Split foot, Aplasia/Hypoplasia of the distal phalanges of the toe... ORPHA:1113
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous clef... OMIM:192445
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Cleft palate, Deep palmar crease OMIM:600251
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Diffuse Neonatal Hemangiomatosis
Hydrops fetalis, Polyhydramnios, Ascites, Premature birth, Patent ductus arteriosus ORPHA:2123
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... OMIM:605289
Congenital Heart Block
Hydrops fetalis, Patent foramen ovale, Pleural effusion, Pericardial effusion, Premature birth, P... ORPHA:60041
Hydrops Fetalis
Abnormality of the neck, Polyhydramnios, Lymphedema, Pleural effusion, Ascites, Twin-to-twin tran... ORPHA:1041
Coloboma Of Macula And Skeletal Anomalies
Genu valgum, Contracture of the distal interphalangeal joint of the 5th finger, Cleft palate, Hal... OMIM:216800
Achondrogenesis, Type Ib
Stillbirth, Hydrops fetalis, Polyhydramnios, Breech presentation, Hypoplastic ilia, Micromelia, U... OMIM:600972
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Cleft palate, Ankyloglossia OMIM:303400
Transaldolase Deficiency
Hydrops fetalis, Coarctation of aorta, Edema, Atrial septal defect, Biventricular hypertrophy ORPHA:101028
Coffin-Siris Syndrome 11
Esophageal atresia, Cleft soft palate, High palate, Downturned corners of mouth, Bifid uvula, Wid... OMIM:618779
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Postaxial hand polydactyly, Syndactyly OMIM:615938
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Acrorenal Syndrome
Abnormal tibia morphology, Split hand, Abnormal morphology of ulna, Cleft palate, Aplasia/Hypopla... ORPHA:971
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Split-Hand/Foot Malformation 6
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly OMIM:225300
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Abnormal hip bone morphology, Abnormal met... ORPHA:2631
Cardiomyopathy, Familial Restrictive, 6
Pulmonic stenosis, Hydrops fetalis, Restrictive cardiomyopathy, Ascites OMIM:619433
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrops fetalis, Lymphedema, Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial se... OMIM:601927
Bardet-Biedl Syndrome 8
Postaxial polydactyly, Situs inversus totalis OMIM:615985
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Polyhydramnios, Hydrops fetalis, Limb undergrowth, Abnormal limb bone morphology ORPHA:2204
Orofaciodigital Syndrome Xix
Narrow palate, Cleft soft palate, Midline notching of lower lip, High palate, Postaxial hand poly... OMIM:620107
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis, Redundant neck skin, Neonatal death, Cardiomyopathy OMIM:619003
Robinow Syndrome, Autosomal Recessive 2
Sandal gap, Cleft soft palate, Triangular mouth, Gingival overgrowth, Prominent fingertip pads, A... OMIM:618529
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hydrops fetalis, Fetal akinesia sequence, Hypertrophic cardiomyopathy OMIM:618815
Multiple Self-Healing Squamous Epithelioma, Susceptibility To
Bifid uvula, Talipes equinovarus OMIM:132800
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Limb-Mammary Syndrome
Split hand, Camptodactyly, Split foot, Bifid uvula, Cleft palate, Syndactyly, Hypodontia, Hallux ... OMIM:603543
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Ascites, Premature birth, Metaphyseal irregularity, Cardiomegaly OMIM:269920
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Spondylometaphyseal Dysplasia, Schmidt Type
Narrow greater sciatic notch, Short iliac bones, Abnormal metaphysis morphology, Abnormality of t... ORPHA:93316
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Single umbilical artery, Adducted thumb, Hydrops fetalis, Polyhydramnios, Webbed neck, Flared met... OMIM:616897
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Pulmonic stenosis, Hand polydactyly, Patent ductus arteriosus, Atrial septal defect,... OMIM:249670
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft palate, Cleft soft palate ORPHA:2736
Achondrogenesis Type 1B
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold, Micromelia, Cystic hygroma, Umbilica... ORPHA:93298
Congenital Disorder Of Glycosylation, Type Ik
Nonimmune hydrops fetalis, Cardiomyopathy, Abnormality of the amniotic fluid OMIM:608540
Orofaciodigital Syndrome Xvii
Polydactyly, High, narrow palate, Clubbing of fingers, Central Y-shaped metacarpal, Partial dupli... OMIM:617926
Achondrogenesis Type 1A
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold, Micromelia, Short palm, Cystic hygro... ORPHA:93299
Klippel-Trénaunay Syndrome
Hydrops fetalis, Abnormal tricuspid valve morphology, Ascites, Abnormality of the pulmonary arter... ORPHA:90308
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Postax... OMIM:615986
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonic stenosis ORPHA:2414
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc... OMIM:602418
Weyers Acrofacial Dysostosis
Clinodactyly of the 5th finger, Postaxial hand polydactyly, Short palm, Brachydactyly, Postaxial ... OMIM:193530
Meckel Syndrome, Type 3
Polydactyly, Cleft palate, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:607361
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Polyhydramnios, Hydrops fetalis, Metaphyseal cupping, Bowing of the l... ORPHA:85166
Tetramelic Monodactyly
Split foot, Foot monodactyly, Split hand, Hand monodactyly OMIM:187510
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular... OMIM:617102
Achondrogenesis
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold, Micromelia, Cystic hygroma, Umbilica... ORPHA:932
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Abnormal palate morphology, Abnormality of the wrist, Abnormal shoulder mor... ORPHA:1350
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Ventricular septal defect, Bilateral talipes equinovarus, Postaxial polydac... OMIM:618142
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate, Broad thumb, Brachydactyly, Smooth philtrum OMIM:614526
Robinow Syndrome, Autosomal Dominant 2
Partial duplication of the phalanx of hand, Long philtrum, Cleft soft palate, Triangular mouth, D... OMIM:616331
Bardet-Biedl Syndrome 4
Polydactyly, Abnormality of the dentition, Syndactyly, Brachydactyly OMIM:615982
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Glycogen Storage Disease Iv
Polyhydramnios, Hydrops fetalis, Cardiomyopathy, Ascites, Decreased fetal movement, Edema, Talipe... OMIM:232500
Lymphatic Malformation 12
Polyhydramnios, Lymphedema, Fetal pericardial effusion, Fetal pleural effusion, Neonatal death, N... OMIM:620014
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Orofaciodigital Syndrome X
Fibular aplasia, Finger aplasia, Cleft palate, Preaxial hand polydactyly, Coalescence of tarsal b... OMIM:165590
Lethal Congenital Contracture Syndrome 10
Adducted thumb, Hydrops fetalis, Stiff neck, Torticollis, Fetal akinesia sequence, Femoral bowing... OMIM:617022
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch... OMIM:617300
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Bifid uvula, Finger joint hypermobility, Acetabular erosions OMIM:601492
Neuraminidase Deficiency
Hydrops fetalis, Epiphyseal stippling, Bone-marrow foam cells, Cardiomyopathy, Ascites, Cardiomeg... OMIM:256550
Dyssegmental Dysplasia, Silverman-Handmaker Type
Single umbilical artery, Hydrops fetalis, Encephalocele, Clubbing of fingers, Hypoplastic pubic b... ORPHA:1865
Mulibrey Nanism
Hydrops fetalis, Single transverse palmar crease, Ascites, Pericardial constriction, Myocardial f... OMIM:253250
Oculofaciocardiodental Syndrome
Solitary median maxillary central incisor, Intestinal malrotation, Flexion contracture of the 2nd... ORPHA:2712
Trisomy 1Q
Hydrops fetalis, Polyhydramnios, Increased nuchal translucency, Arachnodactyly, Camptodactyly of ... ORPHA:261344
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Patellar hypoplasia, Sandal gap, Flat capital femoral epiphysis, High palate, ... OMIM:147891
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Joubert Syndrome 18
Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Trident pelvis, Ventricular septa... OMIM:614815
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Clinodactyly of the 5th finger, Dental crowding, High palate, Upper limb asymmetry ORPHA:231140
Carpenter Syndrome
Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly,... ORPHA:65759
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Polysyndactyly of hallux, Preaxial foot polydactyly OMIM:235750
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Orofacial cleft, Triphalangeal thumb, Non-midline cleft of the upper lip, ... OMIM:141400
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Genu valgum, Postaxial polydactyly, Limb undergrowth, Complete atr... OMIM:619142
Joubert Syndrome 20
Postaxial polydactyly, 4-5 toe syndactyly OMIM:614970
Hydrolethalus Syndrome 2
Cleft palate, Postaxial hand polydactyly, Preaxial foot polydactyly, Postaxial foot polydactyly OMIM:614120
Hb Bart'S Hydrops Fetalis
Pericarditis, Polyhydramnios, Oligohydramnios, Hydrops fetalis ORPHA:163596
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Fibrochondrogenesis 1
Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Hydrops fetalis, Rhizomelia, Clinod... OMIM:228520
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broad hallux phalanx, Preaxial hand p... ORPHA:380
Bardet-Biedl Syndrome 2
Postaxial hand polydactyly, Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy, ... OMIM:615981
Schneckenbecken Dysplasia
Metaphyseal irregularity, Stillbirth, Polyhydramnios, Snail-like ilia, Short long bone, Flat acet... OMIM:269250
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... ORPHA:888
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Short uvula, Short lingual frenulum, Short long bone, Flat acetabular roof, High pal... OMIM:614091
Arthrogryposis, Distal, Type 3
Single transverse palmar crease, High palate, Ulnar deviation of the hand or of fingers of the ha... OMIM:114300
W Syndrome
Hypoplasia of the ulna, Cubitus valgus, Broad uvula, Camptodactyly, Metatarsus adductus, Upper li... ORPHA:2804
Mosaic Trisomy 9
Rocker bottom foot, Oligohydramnios, Hip dislocation, Single umbilical artery, Hydrops fetalis, D... ORPHA:99776
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Genu valgum, Clinodactyly of the 5th finger, Prominent fingertip pads, Broad thumb, Arachnodactyl... OMIM:619721
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda... OMIM:135750
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Postaxial hand polydactyly, Acetabular spurs, Brachydactyly, Trident acetabulum, Postaxial foot p... OMIM:617405
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Otopalatodigital Syndrome Type 1
Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Short hallux, Oligodonti... ORPHA:90650
Trisomy 13
Bilateral single transverse palmar creases, Hydrops fetalis, Postaxial hand polydactyly, Abnormal... ORPHA:3378
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Camptobrachydactyly
Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly OMIM:114150
Polydactyly-Myopia Syndrome
Postaxial hand polydactyly ORPHA:2917
Joubert Syndrome 17
Postaxial polydactyly, Preaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... ORPHA:2751
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay... ORPHA:1856
Retinitis Pigmentosa 89
Bicuspid aortic valve, Postaxial polydactyly OMIM:618955
Achondrogenesis, Type Ii
Short tubular bones of the hand, Stillbirth, Polyhydramnios, Hydrops fetalis, Hypoplastic iliac w... OMIM:200610
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Abnormality of the wrist, Cleft palate, Oligodontia of primary teeth, Carpal s... ORPHA:2010
Adducted Thumbs Syndrome
Velopharyngeal insufficiency, High, narrow palate, Cleft palate, High palate OMIM:201550
Congenital Disorder Of Glycosylation, Type Il
Hydrops fetalis, Ascites, Fetal skin edema, Pericardial effusion, Decreased fetal movement, Short... OMIM:608776
Say Syndrome
Short distal phalanx of finger, Cleft palate, Tapered finger, Ulnar deviation of the 3rd finger OMIM:181180
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Natal tooth OMIM:217150
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Microdontia, Talon cusp,... OMIM:605282
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Birk-Barel Syndrome
Short philtrum, Single transverse palmar crease, High palate, Bifid uvula, Submucous cleft soft p... OMIM:612292
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Non-midline cleft of the upper lip, Cleft palate, Lip pit ORPHA:1072
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
2-3 toe syndactyly, Postaxial hand polydactyly, Broad hallux, 2-3 finger syndactyly, Postaxial po... OMIM:217085
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Bifid uvula, Absent thumb OMIM:619239
Sialidosis Type 2
Hydrops fetalis, Ascites, Pedal edema, Umbilical hernia ORPHA:87876
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... ORPHA:199306
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Short long bone, Brachydactyly OMIM:615633
Polydactyly, Postaxial, Type A6
Broad phalanges of the 5th finger, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:615226
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Postaxial hand polydactyly OMIM:615937
Microphthalmia, Syndromic 8
Orofacial cleft, Split foot, Cleft upper lip, Cleft palate, Widely-spaced maxillary central incisors OMIM:601349
Split-Hand/Foot Malformation 3
Narrow mouth, High palate, Camptodactyly, Split hand, Cleft palate OMIM:246560
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ascites, Fetal pericardial effusion, Nonimmune hydrops fetalis, Patent ductus arteriosus, Overrid... OMIM:617021
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Short long bone, Brachydactyly OMIM:613819
Meckel Syndrome, Type 10
Postaxial hand polydactyly, Camptodactyly, Postaxial polydactyly, Ulnar deviation of the hand, Bi... OMIM:614175
Schilbach-Rott Syndrome
2-3 toe cutaneous syndactyly, Narrow mouth, Bifid uvula, 3-4 finger cutaneous syndactyly, Submuco... OMIM:164220
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Short middle phalanx of the 4th finger, Limited pronation/supination of forearm,... OMIM:616738
Meckel Syndrome, Type 2
Polydactyly, Postaxial hand polydactyly, Bowing of the long bones, Intestinal malrotation, Cleft ... OMIM:603194
Brachycephaly, Trichomegaly, And Developmental Delay
Thin vermilion border, Supernumerary tooth, Thick lower lip vermilion, Single transverse palmar c... OMIM:617412
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Absent tibia, Sp... ORPHA:93322
Anencephaly 2
Cleft maxillary alveolar ridge, Median cleft palate, Median cleft upper lip OMIM:619452
Simpson-Golabi-Behmel Syndrome, Type 2
Broad thumb, Short finger, Postaxial hand polydactyly OMIM:300209
Craniosynostosis 2
Supernumerary tooth, Brachydactyly, Triphalangeal thumb, Cleft soft palate OMIM:604757
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short long bone... OMIM:613091
Achondrogenesis, Type Ia
Hypoplasia of the radius, Stillbirth, Polyhydramnios, Hydrops fetalis, Talipes equinovarus, Sever... OMIM:200600
Bardet-Biedl Syndrome 22
Polydactyly, Postaxial foot polydactyly OMIM:617119
Meckel Syndrome, Type 5
Postaxial hand polydactyly, Bowing of the long bones, Cleft upper lip, Cleft palate, Postaxial fo... OMIM:611561
Lymphatic Malformation 13
Single umbilical artery, Patent foramen ovale, Lymphedema, Ascites, Fetal pleural effusion, Fetal... OMIM:620244
Congenital Enterovirus Infection
Myocarditis, Fetal distress, Polyhydramnios, Hydrops fetalis, Cardiomyopathy, Pleural effusion, P... ORPHA:292
Greenberg Dysplasia
Short long bone, Short metacarpal, Mesomelia, Nonimmune hydrops fetalis, Tetraphocomelia, Short f... OMIM:215140
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Hypoplastic ilia, Micromelia, Postaxial polydactyly, Syndactyly, Brachy... OMIM:617895
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Femoral bowing, Short long bone, Acetabular spurs, Postaxial polydactyly, S... OMIM:615503
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... OMIM:212093
Microcephaly 30, Primary, Autosomal Recessive
Pierre-Robin sequence, Clinodactyly of the 5th finger, Thin upper lip vermilion, Cleft soft palate OMIM:620183
Meckel Syndrome, Type 8
Polydactyly, Cleft upper lip, Cleft palate, Talipes equinovarus OMIM:613885
3P25.3 Microdeletion Syndrome
Proximal placement of thumb, Acromesomelia, Pulmonic stenosis, Broad thumb, Postaxial polydactyly... ORPHA:435638
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho... ORPHA:2378
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Foot polydactyly, Postaxial hand polydactyly ORPHA:2155
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Y-shaped metatarsals, Postaxial hand polydactyly, 3-4 finger syndactyly, Y-sh... OMIM:175700
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Non-midline cleft of the upper lip, Ectopic anus, Cleft palate, Aplasia/Hypoplasia of the radius ORPHA:2476
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Premature birth, Nonimmune hydrops fetalis OMIM:618838
Orofaciodigital Syndrome Ii
Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Flared metaphysis, High palate, ... OMIM:252100
Branchiogenic-Deafness Syndrome
Short distal phalanx of finger, Submucous cleft hard palate, Branchial fistula, Branchial cyst OMIM:609166
Pelger-Huet Anomaly
Polydactyly, Short 4th metacarpal, Upper limb undergrowth, Gingival overgrowth, Abnormality of th... OMIM:169400
Campomelia, Cumming Type
Hydrops fetalis, Lymphedema, Bowing of the long bones, Micromelia, Cystic hygroma, Brachydactyly,... ORPHA:1318
Intellectual Developmental Disorder, Autosomal Dominant 23
Postaxial polydactyly, Broad distal phalanx of finger, Sandal gap OMIM:615761
Orofaciodigital Syndrome V
Aganglionic megacolon, Sandal gap, High palate, Postaxial hand polydactyly, Ankyloglossia, Postax... OMIM:174300
Gm1 Gangliosidosis
Abnormal metaphysis morphology, Hydrops fetalis, Abnormal diaphysis morphology, Cardiomyopathy, C... ORPHA:354
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Femoral bowing, Glossoptosis, Dumbbell-shaped long bone, Micromelia, Cleft palate, Me... ORPHA:440354
Fetal Gaucher Disease
Stillbirth, Hydrops fetalis, Neonatal death, Decreased fetal movement, Fetal akinesia sequence ORPHA:85212
Alg8-Cdg
Hydrops fetalis, Ascites, Camptodactyly, Premature birth, Brachydactyly, Edema, Oligohydramnios, ... ORPHA:79325
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Buratti-Harel Syndrome
Clinodactyly of the 5th finger, High palate, Broad thumb, Velopharyngeal insufficiency, Bifid uvu... OMIM:619314
Orofaciodigital Syndrome Iii
Supernumerary tooth, Postaxial hand polydactyly, Microdontia, Short sternum, Bifid uvula, Tongue ... OMIM:258850
Combined Oxidative Phosphorylation Deficiency 42
Nonimmune hydrops fetalis, Neonatal death, Cardiomyopathy, Premature birth OMIM:618839
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Hydrops fetalis, Predominantly lower limb lymphedema, Pleural effusion, Ascites,... ORPHA:69735
Lymphatic Malformation 6
Facial edema, Polyhydramnios, Webbed neck, Chylothorax, Genital edema, Lymphedema, Pleural effusi... OMIM:616843
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Long philtrum, Thin vermilion border, Clinodactyly of the 5th finger, Single transverse palmar cr... OMIM:614701
Combined Oxidative Phosphorylation Deficiency 40
Premature birth, Neonatal death, Nonimmune hydrops fetalis, Hypertrophic cardiomyopathy OMIM:618835
Nephronophthisis 15
Polydactyly OMIM:614845
Combined Oxidative Phosphorylation Deficiency 57
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Fetal pleural effusio... OMIM:620167
Orofaciodigital Syndrome Vi
Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,... OMIM:277170
Long-Olsen-Distelmaier Syndrome
Secundum atrial septal defect, Nonimmune hydrops fetalis, Cardiomegaly, Dilated cardiomyopathy, V... OMIM:620609
Jeune Syndrome
Abnormal metaphysis morphology, Postaxial hand polydactyly, Abnormal pelvic girdle bone morpholog... ORPHA:474
Mucopolysaccharidosis Type 7
Diaphyseal undertubulation, Hydrops fetalis, Abnormal hip bone morphology, Epiphyseal stippling, ... ORPHA:584
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Congenital Myopathy 1B, Autosomal Recessive
Polyhydramnios, Hydrops fetalis, Decreased fetal movement OMIM:255320
Idiopathic Neonatal Atrial Flutter
Fetal distress, Hydrops fetalis ORPHA:45452
Hydrolethalus
Gingival cleft, Postaxial hand polydactyly, Micromelia, Bifid uvula, Cleft palate, Unilateral cle... ORPHA:2189
Syngap1-Related Developmental And Epileptic Encephalopathy
Thin vermilion border, Narrow mouth, High palate, Postaxial polydactyly, Wide mouth ORPHA:544254
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Bilateral single transverse palmar creases, Pericardial lymphangiectasia, Spina bifida occulta, D... OMIM:235510
Joubert Syndrome 7
Postaxial polydactyly, Genu valgum, Postaxial hand polydactyly OMIM:611560
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Short humerus, Abno... ORPHA:2491
Pallister-Hall Syndrome
Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly, Hip dislo... OMIM:146510
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2-3 toe syndactyly, Micromel... OMIM:617866
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Preaxial polydactyly, Polyhydramnios, Hydrops fetalis, Anencephaly, Micromelia, Postaxial polydac... OMIM:616546
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Syndactyly OMIM:605231
Suleiman-El-Hattab Syndrome
Polydactyly, Thick lower lip vermilion, Single transverse palmar crease, High palate, Downturned ... OMIM:618950
Free Sialic Acid Storage Disease
Abnormality of the upper limb, Hydrops fetalis, Ascites ORPHA:834
Cree Mental Retardation Syndrome
Rocker bottom foot, Cutaneous finger syndactyly, Cleft soft palate OMIM:606851
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ... ORPHA:3429
Chromosome 3Pter-P25 Deletion Syndrome
Postaxial polydactyly, Overlapping toe, Atrioventricular canal defect, Tapered finger OMIM:613792
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Nonimmune hydrops fet... OMIM:619313
Ivic Syndrome
Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Preaxial polydactyly, H... OMIM:147750
Scalp Defects-Postaxial Polydactyly Syndrome
Postaxial polydactyly type A ORPHA:1003
Joubert Syndrome 24
Postaxial hand polydactyly, Postaxial foot polydactyly, Talipes equinovarus OMIM:616654
Tarp Syndrome
Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Single transverse palmar crease... OMIM:311900
Mucopolysaccharidosis, Type Vii
Narrow greater sciatic notch, Hydrops fetalis, Genu valgum, Abnormal heart valve morphology, Card... OMIM:253220
Lymphedema-Distichiasis Syndrome
Webbed neck, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops feta... OMIM:153400
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Bifid uvula, High palate, Median cleft upper lip OMIM:155145
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Broad distal phalanx of finger, 2-3 toe syndactyly, Intestinal malrotation, Postaxial polydactyly... ORPHA:404440
Al-Gazali-Bakalinova Syndrome
Polydactyly, Genu valgum, Triangular mouth, Epiphyseal dysplasia, Clinodactyly, Flattened epiphys... OMIM:607131
Bardet-Biedl Syndrome 17
Polydactyly, Situs inversus totalis, Dextrocardia, Mesoaxial polydactyly, Postaxial hand polydact... OMIM:615994
Noonan Syndrome 2
Redundant neck skin, Prominent fingertip pads, Cardiomyopathy, Low posterior hairline, Pulmonic s... OMIM:605275
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hydrops fetalis, Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Shor... OMIM:263520
Long Qt Syndrome 3
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:603830
Gm1-Gangliosidosis, Type I
Hydrops fetalis, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Short neck, Dilate... OMIM:230500
Houge-Janssens Syndrome 2
Postaxial polydactyly, Deviation of the 5th finger, Broad hallux, Hip dysplasia OMIM:616362
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Polyhydramnios, Ascites, Nonimmune hydrops fetalis, Abnormal cardiomyocyte morphology, Dilated ca... ORPHA:367
Gm1 Gangliosidosis Type 1
Abnormal placenta morphology, Hydrops fetalis, Broad long bone diaphyses, Short long bone, Cardio... ORPHA:79255
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Clinodactyly of the 5th finger, Ectrodactyly, Cleft palate, Syndactyly, Short 5th fi... ORPHA:397590
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate OMIM:614402
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... OMIM:265300
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Hydrops fetalis, Abnormal tibia morphology, Aplasia of... ORPHA:2879
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Talipes equinovarus, Tarsal synostosis, Cleft palate, Absent phalangeal crease OMIM:618469
Culler-Jones Syndrome
Postaxial polydactyly, Cleft upper lip, Cleft palate OMIM:615849
Alg9-Cdg
Narrow greater sciatic notch, Short long bone, Low posterior hairline, Abnormal heart morphology,... ORPHA:79328
Lymphatic Malformation 1
Nonimmune hydrops fetalis, Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema OMIM:153100
Joubert Syndrome 23
Polydactyly OMIM:616490
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Hemochromatosis, Neonatal
Oligohydramnios, Nonimmune hydrops fetalis OMIM:231100
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp... OMIM:268305
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Ventricular septal defect, Syndactyly OMIM:602501
Hypomelia With Mullerian Duct Anomalies
Split hand, Postaxial hand polydactyly OMIM:146160
Mgat2-Cdg
Hydrops fetalis, Abnormal heart morphology, Brachydactyly, Patent ductus arteriosus, Ventricular ... ORPHA:79329
Yunis-Varon Syndrome
Rocker bottom foot, Redundant neck skin, Abnormal finger morphology, Cardiomyopathy, Aplasia of t... ORPHA:3472
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Tibial bowing, Abnormal pelvic girdle bone morphology, Premature birth, Limb... OMIM:166210
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Postaxial hand polydactyly, Abnormal cardiac septum morphology ORPHA:83473
20P13 Microdeletion Syndrome
Polydactyly, Finger syndactyly, Tented upper lip vermilion, Brachydactyly, Smooth philtrum, Clino... ORPHA:313781
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Finger syndactyly, Hypodontia, Adactyly, High palate, Split hand, ... ORPHA:989
Mycophenolate Mofetil Embryopathy
Hydrops fetalis, Foot polydactyly, Short palm, Coarctation of aorta, Ventricular septal defect ORPHA:268249
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Widely spaced teeth, Clinodactyly of the 5th finger, Delayed eruption of teeth, Finger syndactyly... ORPHA:1071
Blomstrand Lethal Chondrodysplasia
Polyhydramnios, Hydrops fetalis, Rhizomelia, Flared metaphysis, Metaphyseal cupping, Short metaca... ORPHA:50945
Alpha-Thalassemia
Generalized edema, Pericardial effusion, Hydrops fetalis, Pleural effusion ORPHA:846
8Q22.1 Microdeletion Syndrome
Sandal gap, Finger syndactyly, Abnormality of the dentition, Camptodactyly of finger, Long philtr... ORPHA:178303
Vertebral Hypersegmentation And Orofacial Anomalies
Submucous cleft hard palate, Scapular winging, Unilateral cleft palate, Unilateral cleft lip OMIM:619122
Loeys-Dietz Syndrome 5
Increased arm span, Flexion contracture of toe, Cleft soft palate, Talipes equinovarus, Bilateral... OMIM:615582
Orofaciodigital Syndrome Type 6
Preaxial polydactyly, Finger clinodactyly, Mesoaxial polydactyly, High palate, Tongue nodules, Ce... ORPHA:2754
Meier-Gorlin Syndrome 5
Slender long bone, Hypoplasia of the capital femoral epiphysis, Irregular femoral epiphysis, Pate... OMIM:613805
Limb-Mammary Syndrome
Cleft hard palate, Clinodactyly of the 5th finger, Hypodontia, Oligodactyly, Bifid uvula, Submuco... ORPHA:69085
Joubert Syndrome 27
Polydactyly, Thick lower lip vermilion OMIM:617120
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand OMIM:245800
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Hydrops fetalis, Abnormality of the amniotic fluid OMIM:609015
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Nonimmune hydrops fetalis, Brachydactyly, Slender long bone OMIM:618265
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis ORPHA:766
Cranioectodermal Dysplasia 2
Polydactyly, Hydrops fetalis, Polyhydramnios, Rhizomelia, Patent foramen ovale, Postaxial hand po... OMIM:613610
Endocrine-Cerebroosteodysplasia
Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Single transverse palmar crea... OMIM:612651
Hand-Foot-Genital Syndrome
Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux... ORPHA:2438
Joubert Syndrome 39
Joint contracture of the 5th finger, Postaxial polydactyly, Hypoplastic left heart OMIM:619562
Cardioacrofacial Dysplasia 2
Atrioventricular canal defect, Clinodactyly of the 5th finger, Genu valgum, Clubbing, Postaxial h... OMIM:619143
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly, Atrial septal defect, Ventricular septal defect OMIM:603387
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Intellectual Developmental Disorder, Autosomal Dominant 58
Single transverse palmar crease, Dental crowding, High palate, Protruding tongue, Wide mouth, Thi... OMIM:618106
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Short finger, Aplasia of the distal phalanx of the 5th toe, Clinodactyly of the 5th finger, Oligo... OMIM:608670
Biemond Syndrome Type 2
Preaxial polydactyly ORPHA:141333
Congenital Disorder Of Glycosylation, Type Iil
Patent ductus arteriosus, Postaxial polydactyly, Hip dysplasia, Atrial septal defect, Ventricular... OMIM:614576
Farber Disease
Abnormality of the hand, Short finger, Hydrops fetalis, Abnormality of the wrist, Abnormality of ... ORPHA:333
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Nonimmune hydrops fetalis, Dysplastic tricuspid valve, Bicuspid aortic valve, Single umbilical ar... OMIM:265380
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Sandal gap, Camptodactyl... OMIM:206920
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Deep palmar crease, Short philtrum, Cleft soft palate, Smooth philtrum, Adducted thumb ORPHA:293725
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Decreased fetal movement, Hydrops fetalis, Dislocated radial head, Camptodact... OMIM:265000
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Preaxial polydactyly ORPHA:64754
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Cleft palate, Thick vermilion border, Talipes equinovarus ORPHA:250999
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Ascites, Neonatal death, Nonimmune hydrops fetalis, Premature birth, Desquamation... OMIM:608013
Rhizomelic Chondrodysplasia Punctata, Type 2
Rhizomelia, Epiphyseal stippling, High palate, Stippled calcification proximal humeral epiphyses,... OMIM:222765
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Osteopathia Striata-Cranial Sclerosis Syndrome
Abnormal metaphysis morphology, High, narrow palate, Delayed eruption of teeth, Large iliac wing,... ORPHA:2780
9Q21.13 Microdeletion Syndrome
Polydactyly, Downturned corners of mouth, Abnormal tongue morphology, Hip dysplasia ORPHA:531151
Fraser Syndrome 3
Stillbirth, Sonographic non-visualized fetal bladder, Ascites, Short toe, Nonimmune hydrops fetal... OMIM:617667
S-Adenosylhomocysteine Hydrolase Deficiency
Hydrops fetalis, Cardiomyopathy ORPHA:88618
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Sandal gap, Prominent fingertip pads, High palate, Smooth philtrum, Long phi... OMIM:612863
Orofaciodigital Syndrome Xv
Duplication of phalanx of hallux, Postaxial hand polydactyly, Broad hallux OMIM:617127
Carpenter Syndrome 1
Flared iliac wing, Pulmonic stenosis, Duplication of the proximal phalanx of the hallux, Genu var... OMIM:201000
Meckel Syndrome 14
Postaxial hand polydactyly, Bowing of the long bones, Postaxial polydactyly, Syndactyly, Postaxia... OMIM:619879
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Postaxial polydactyly, Fetal pericardial effusion, Premature birth, Ventricular s... OMIM:219730
Rhombencephalosynapsis
Polydactyly, Aganglionic megacolon, Esophageal atresia, Finger syndactyly, Narrow mouth, Anal atr... ORPHA:59315
Joubert Syndrome 16
Polydactyly OMIM:614465
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, S... OMIM:616300
Bardet-Biedl Syndrome 20
2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial polydactyly, Atrial septal defect, Prea... OMIM:619471
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Aplasia of the 1st metacarpa... OMIM:142900
Stickler Syndrome, Type I
Abnormal femoral epiphysis morphology, Arachnodactyly, Bifid uvula, Irregular femoral epiphysis, ... OMIM:108300
Joubert Syndrome 32
Postaxial hand polydactyly, Postaxial foot polydactyly, Hypertrophic cardiomyopathy OMIM:617757
Otopalatodigital Syndrome Type 2
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Short h... ORPHA:90652
Cerebrocostomandibular Syndrome
Anal stenosis, Clinodactyly of the 5th finger, Cleft soft palate, Short hard palate, Calcaneal ep... OMIM:117650
Frontonasal Dysplasia 1
Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Campt... OMIM:136760
Fetal Akinesia Deformation Sequence 1
Rocker bottom foot, Short umbilical cord, Stillbirth, Polyhydramnios, Small placenta, Decreased f... OMIM:208150
Congenital Myopathy 22B, Severe Fetal
Polyhydramnios, Tapered toe, Breech presentation, Slender long bone, Shoulder flexion contracture... OMIM:620369
Myhre Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Gingival cleft, Large iliac wing, Narrow m... ORPHA:2588
Marbach-Schaaf Neurodevelopmental Syndrome
Downturned corners of mouth, Brachydactyly, Submucous cleft hard palate, Tapered finger, Thin upp... OMIM:619680
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Broad distal phalanx of finger, Cleft hard palate, Clinodactyly of the 5th finger, Delayed erupti... OMIM:300990
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Palmar telangiectasia, Palpebral edema, Nonimmune hydrops fetalis, Predominantly lower limb lymph... OMIM:607823
3Mc Syndrome 3
Tessier cleft, Preaxial polydactyly, Cleft upper lip, Cleft palate, Radioulnar synostosis, Clinod... OMIM:248340
Bardet-Biedl Syndrome 1
Radial deviation of finger, Postaxial hand polydactyly, Foot polydactyly, Postaxial polydactyly, ... OMIM:209900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Hypoplastic ischia OMIM:616910
Joubert Syndrome 37
Postaxial polydactyly OMIM:619185
Orofaciodigital Syndrome I
Polydactyly, Supernumerary tooth, Radial deviation of finger, High palate, Tongue nodules, Ankylo... OMIM:311200
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Foot polydactyly, Phocomelia, Split hand, Duodenal atresia ORPHA:3004
Aminopterin Syndrome Sine Aminopterin
Arachnodactyly, Rudimentary postaxial polydactyly of hands, Syndactyly, Brachydactyly, Short thum... OMIM:600325
Native American Myopathy
High palate, Camptodactyly, Downturned corners of mouth, Bifid uvula, Cleft palate, Submucous cle... ORPHA:168572
Joubert Syndrome 22
2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:615665
Hennekam Syndrome
Hydrops fetalis, Delayed eruption of teeth, Chylothorax, Finger syndactyly, Lymphedema, Ascites, ... ORPHA:2136
Amish Lethal Microcephaly
Cleft soft palate ORPHA:99742
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Fetal distress, Bilateral fetal pyelectasis, Polyhydramnios, Hydrops fetalis, Breech presentation... OMIM:300868
Isolated Cleft Lip
Supernumerary maxillary incisor, Non-midline cleft of the upper lip, Macrodontia, Velopharyngeal ... ORPHA:199302
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Patent ductus arteriosus, Short foot, Postaxial polydactyly, Hip dysplasia, Atrial septal defect,... OMIM:300968
Gaucher Disease Type 3
Hydrops fetalis, Abnormal heart valve morphology, Mitral valve calcification, Pericardial effusio... ORPHA:77261
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly OMIM:615824
Congenital Syphilis
Myocarditis, Large placenta, Hydrops fetalis, Tibial bowing, Premature birth ORPHA:499009
Tarp Syndrome
Rocker bottom foot, Finger syndactyly, Single transverse palmar crease, Postaxial polydactyly, Sh... ORPHA:2886
Intellectual Developmental Disorder, Autosomal Dominant 73
Bilateral single transverse palmar creases, Everted lower lip vermilion, Prominent interphalangea... OMIM:620450
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydrops fetalis, Hammertoe, Hydranencephaly, Patent foramen ovale, Pulmonary artery atresia, Cere... OMIM:620371
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Epiphyseal stippling, Stippled calcification in carpal bones, Abnormal pelvic girdle ... OMIM:302960
Orofaciodigital Syndrome Type 4
Abnormal oral frenulum morphology, Bifid uvula, Genu varum, Short philtrum, Perineal fistula, Pos... ORPHA:2753
Macrodactyly
Macrodactyly OMIM:155500
Pseudoaminopterin Syndrome
Clinodactyly of the 5th toe, Limited elbow movement, Short 4th metacarpal, Hip subluxation, Clubb... ORPHA:221120
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Postaxial hand polydactyly, Broad ... ORPHA:3082
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, 2-3 toe syndactyly, Postaxial polydactyly, 2-4 toe syndactyly, Brachydactyly OMIM:614099
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... OMIM:617925
Yunis-Varon Syndrome
Bilateral single transverse palmar creases, Redundant neck skin, Cardiomyopathy, Flat acetabular ... OMIM:216340
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Rhizomelic leg shortening, Early ossification of capital femoral epiphyses, Short digit, Rhizomel... ORPHA:397715
Joubert Syndrome 14
Postaxial polydactyly, Ventricular septal defect OMIM:614424
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Abnormality of the amniotic fluid, Pericardial effusion, Pericarditis, Nonimmune ... OMIM:212065
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Congenital Sialidosis Type 2
Polydactyly, Ascites, Abnormal heart morphology, Umbilical hernia, Edema ORPHA:93400
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly, Tented upper lip vermilion, High palate, Deep philtrum ORPHA:314655
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Triphalangeal thumb, Webbed neck, Abnormality of the upper li... ORPHA:124
Carpenter Syndrome 2
Situs inversus totalis, Preaxial polydactyly, Transposition of the great arteries, Clinodactyly o... OMIM:614976
Lenz-Majewski Hyperostotic Dwarfism
Abnormal metaphysis morphology, High, narrow palate, Abnormal metacarpal morphology, Finger synda... ORPHA:2658
Miller-Dieker Lissencephaly Syndrome
Polydactyly, Joint contracture of the hand, Deep palmar crease, Clinodactyly of the 5th finger, D... OMIM:247200
Capillary Malformation-Arteriovenous Malformation
Chylothorax, Abnormal heart morphology, Nonimmune hydrops fetalis, Lymphedema ORPHA:137667
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis, Syndactyly OMIM:224120
Constricting Bands, Congenital
Tessier cleft, Cleft upper lip, Hand polydactyly, Cleft palate, Syndactyly, Talipes equinovarus OMIM:217100
C Syndrome
Radial deviation of finger, Dislocated radial head, Postaxial hand polydactyly, Short metacarpal,... OMIM:211750
Bardet-Biedl Syndrome 12
Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:615989
Duane-Radial Ray Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Tr... OMIM:607323
Generalized Arterial Calcification Of Infancy
Calcification of the aorta, Stippled calcification of the elbow, Fetal distress, Hydrops fetalis,... ORPHA:51608
Cholestasis, Progressive Familial Intrahepatic, 5
Nonimmune hydrops fetalis, Pleural effusion, Ascites OMIM:617049
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Thick lower lip vermilion, Unilateral cleft palate, Wide mouth, Unilateral cleft lip, Submucous c... OMIM:619103
Anemia, Congenital Dyserythropoietic, Type Iv
Hydrops fetalis, Hypertrophic cardiomyopathy OMIM:613673
Mullegama-Klein-Martinez Syndrome
Polydactyly, Clinodactyly of the 5th finger, Short philtrum, Submucous cleft of soft and hard pal... OMIM:301022
Pallister-Hall-Like Syndrome
Postaxial hand polydactyly, Micromelia, Toe syndactyly, Postaxial foot polydactyly, Hip dislocation OMIM:241800
Mckusick-Kaufman Syndrome
Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly,... ORPHA:2473
Cerebrooculonasal Syndrome
Narrow palate, Solitary median maxillary central incisor, High palate, Postaxial hand polydactyly... OMIM:605627
Joubert Syndrome 15
Preaxial polydactyly OMIM:614464
Acrofacial Dysostosis, Weyers Type
Clinodactyly of the 5th finger, Overlapping fingers, Postaxial hand polydactyly, Small hand ORPHA:952
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Genu valgum, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Postaxial hand ... OMIM:615630
Ellis-Van Creveld Syndrome
Genu valgum, Talipes equinovarus, Hypoplastic iliac wing, Short long bone, Postaxial hand polydac... OMIM:225500
Acromelic Frontonasal Dysostosis
U-Shaped upper lip vermilion, Patellar hypoplasia, Midline facial cleft, Cleft upper lip, Mesomel... OMIM:603671
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Tibial bow... ORPHA:1106
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Dilated cardiomyopathy, Abnormal heart morphology, Dehydration ORPHA:79282
Kinsship Syndrome
Polydactyly, Fibular hypoplasia, Thick lower lip vermilion, Widely spaced teeth, Short philtrum, ... OMIM:619297
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Palmopl... OMIM:617527
Campomelic Dysplasia
Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Short long bone, Tibial bowing, C... OMIM:114290
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High, narrow palate, Widely spaced teeth, Cleft soft palate, Short philtrum, Prominent fingertip ... OMIM:619950
Dubowitz Syndrome
Rectal prolapse, Anal stenosis, Clinodactyly of the 5th finger, Sandal gap, Delayed eruption of t... ORPHA:235
Basal Cell Nevus Syndrome 1
Polydactyly, Short 4th metacarpal, Palmar pits, Odontogenic keratocysts of the jaw, Hamartomatous... OMIM:109400
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Lymphedema, Nonimmune hydrops fetalis OMIM:137940
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Submucous cleft hard palate, Bifid uvula OMIM:617660
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Atrioventricular canal defect, Short clavicles, Short long bone, Postaxial hand polydactyly, Post... OMIM:617088
Acrocallosal Syndrome
Triphalangeal thumb, Postaxial hand polydactyly ORPHA:36
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Congenital hip dislocation, Pyloric stenosis, Contracture of the proximal interphala... ORPHA:457279
Ear-Patella-Short Stature Syndrome
High, narrow palate, Clinodactyly of the 5th finger, Slender long bone, Narrow mouth, Camptodacty... ORPHA:2554
Acalvaria
Postaxial hand polydactyly ORPHA:945
Double Outlet Right Ventricle
Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Narrow mouth ORPHA:3426
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Broad distal phalanx of finger, Genu valgum, Broad distal phalanx of the toes, Thin lower lip ver... OMIM:619194
Walker-Warburg Syndrome
Metatarsus valgus, Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:899
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Postaxial hand polydactyly, Patent ductus arteriosus OMIM:220220
Oliver Syndrome
Clinodactyly of the 5th finger, Prominent fingertip pads, Postaxial hand polydactyly, Elbow flexi... ORPHA:2920
Desmosterolosis
Narrow mouth, Micromelia, Intestinal malrotation, Metatarsus adductus, Bifid uvula, Cleft palate,... ORPHA:35107
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bilateral single transverse palmar creases, Aplasia/hypoplasia of the femur, Abnormal metaphysis ... ORPHA:2636
Joubert Syndrome 10
Brachydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:300804
Meckel Syndrome, Type 1
Radial deviation of finger, Postaxial hand polydactyly, Bowing of the long bones, Foot polydactyl... OMIM:249000
Velocardiofacial Syndrome
Abnormality of the hand, Velopharyngeal insufficiency, Cleft palate, Pierre-Robin sequence, Open ... OMIM:192430
Treacher Collins Syndrome 1
Cleft soft palate, Narrow mouth, Cleft palate, Wide mouth, Abnormal parotid gland morphology OMIM:154500
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Tooth malposition, Failure of eruption of permanent teeth, Bifid uvula, Cleft palate, Submucous c... ORPHA:2250
Galactosialidosis
Nonimmune hydrops fetalis OMIM:256540
Au-Kline Syndrome
Deep palmar crease, Clinodactyly of the 5th finger, Oligodontia, High palate, Postaxial polydacty... OMIM:616580
Mend Syndrome
Polydactyly, 2-3 toe syndactyly, High palate, Long fingers, Broad hallux, Smooth philtrum, Overla... OMIM:300960
Helsmoortel-Van Der Aa Syndrome
Sandal gap, Prominent fingertip pads, Everted lower lip vermilion, Microdontia, Short lower limbs... OMIM:615873
Ulnar-Mammary Syndrome
Aplasia of the pectoralis major muscle, Abnormality of the wrist, Abnormal metacarpal morphology,... ORPHA:3138
Autoinflammatory Disease, Systemic, With Vasculitis
Hydrops fetalis, Ascending tubular aorta aneurysm, Premature birth, Periorbital edema, Cardiomegaly OMIM:620376
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Submucous cleft soft palate, Cleft soft palate ORPHA:2282
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1389
Pearson Syndrome
Hydrops fetalis, Corneal stromal edema, Cardiomyopathy, Dehydration, Abnormal heart morphology ORPHA:699
Branchioskeletogenital Syndrome
Thin vermilion border, Short philtrum, Rootless teeth, Premature loss of teeth, Abnormal dentin m... ORPHA:1299
Loeys-Dietz Syndrome 2
Patent