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, Cleft palate, Cleft lip 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
Triphalangeal thumb, Polydactyly OMIM:190600
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormality of finger OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Polydactyly, Postaxial, Type A6
Broad phalanges of the 5th finger, Postaxial hand polydactyly OMIM:615226
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Polydactyly, Postaxial, Type A9
Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:618219
Polydactyly, Postaxial, Type A10
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly OMIM:618498
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Syndactyly, Type Iv
6 metacarpals, 2-3 toe syndactyly, Triphalangeal thumb, Supernumerary metacarpal bones, Polydacty... OMIM:186200
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly OMIM:174200
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Syngnathia
Cleft palate OMIM:119550
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Synpolydactyly 1
Short middle phalanx of the 5th finger, 4-5 toe syndactyly, 6 metacarpals, Postaxial foot polydac... OMIM:186000
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Broad hallux, Hallux varus, Syndactyly OMIM:234280
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate OMIM:172880
Banki Syndrome
Clinodactyly, Radial deviation of finger OMIM:109300
Polydactyly, Preaxial Iv
Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, 3-4 finger syndactyly, Dy... OMIM:174700
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula, Short distal phalanx of the thumb, Bifid distal phalanx of the thumb, Short distal p... OMIM:256200
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormal thumb morphology, Bifid uvula, Bifid distal phalanx of the thumb, Broad hallux, Partial ... ORPHA:2669
Acrocephalopolysyndactyly Type Iv
Clinodactyly, Syndactyly, Hand polydactyly, Ulnar deviation of the hand or of fingers of the hand... OMIM:201020
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Sandal gap, Short hallux, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1566
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Metacarpal synostosis, Syndactyly OMIM:263450
Ectrodactyly-Cleft Palate Syndrome
Split hand, Cleft palate OMIM:129830
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Brachydactyly, Polydactyly OMIM:617405
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Palant Cleft Palate Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Contracture of the proximal ... OMIM:260150
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Van Der Woude Syndrome 2
Anodontia, Cleft upper lip, Cleft palate OMIM:606713
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Clinodactyly of the 5th finger, Tapered finger, Short distal phalanx of fi... OMIM:311895
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Metatarsus adductus, Polydactyly, Postaxial po... OMIM:613005
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Robin Sequence-Oligodactyly Syndrome
Abnormality of the ulna, Hand oligodactyly, Clinodactyly of the 5th finger, Glossoptosis, Abnorma... ORPHA:3104
Scalp Defects And Postaxial Polydactyly
Postaxial polydactyly type A OMIM:181250
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
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, 1-2 toe complete cutaneous syndactyly, Bifid distal phalanx of toe, Preaxial hand poly... OMIM:186350
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Multiple Synostoses Syndrome 3
Limited interphalangeal movement, Broad hallux, Cubitus valgus, Humeroradial synostosis, Broad th... OMIM:612961
Ectrodactyly-Polydactyly Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ectrodactyly... ORPHA:1892
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Syndactyly, Polydactyly, Abnormal heart morphology, Upper limb phoc... ORPHA:294975
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Acropectoral Syndrome
Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly OMIM:605967
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Short 5th finger, Syndactyly OMIM:186100
Sprengel Deformity
Shoulder muscle hypoplasia, Abnormality of the shoulder girdle musculature, Cleft palate, Abnorma... ORPHA:3181
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Overlapping fingers, Short hallux, Short thumb, Broad hallux, Adducted thumb, Shor... OMIM:618167
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Brachydactyly, Short 2nd toe, Postaxial hand polydactyly, Short thumb OMIM:176305
Disorganization, Mouse, Homolog Of
Cleft upper lip, Hand polydactyly, Limb duplication, Cleft palate, Hip dislocation OMIM:223200
Split-Hand/Foot Malformation 1
Clinodactyly, Hand oligodactyly, Triphalangeal thumb, Broad hallux, Split foot, Foot oligodactyly... OMIM:183600
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metacarpal synostosis, Metatar... OMIM:608180
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Cystic hygroma, Stillbirth OMIM:257350
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Congenital Laryngomalacia
Cleft palate, Non-midline cleft lip ORPHA:2373
Polydactyly, Postaxial, With Progressive Myopia
Postaxial hand polydactyly OMIM:174310
Split-Foot Deformity With Mandibulofacial Dysostosis
Split foot, Toe syndactyly, Split hand, Cleft palate OMIM:183700
Holzgreve Syndrome
Hand polydactyly, Cleft upper lip, Cleft palate OMIM:236110
Bifid Uvula
Submucous cleft soft palate, Bifid uvula, Cleft lip ORPHA:99771
Trochlea Of The Humerus, Aplasia Of
Cleft palate, Short humerus OMIM:191000
Anencephaly 2
Cleft of alveolar ridge of maxilla, Median cleft palate, Median cleft lip OMIM:619452
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Cleft palate, Non-midline cleft lip ORPHA:1074
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Absent thumb, Absent middle phalanx of 2nd finger, Proximal placement of thumb, Proximal placemen... OMIM:218530
Mesomelic Limb Shortening And Bowing
Bowing of the arm, Bowing of the legs, Mesomelic leg shortening, Mesomelic arm shortening, Campto... OMIM:249710
Fetal Parvovirus Syndrome
Hydrops fetalis, Hypertrophic cardiomyopathy, Increased nuchal translucency, Ascites ORPHA:295
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Preaxial hand polydactyly, Cleft upper lip, Cleft palate OMIM:601420
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Dislocated radial head, Rhizomelia, Fixed... ORPHA:166016
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Short metacarpal, Rhizomelia, Broad palm, Postaxial hand polydactyly, Mesomelia, S... OMIM:611263
Arthrogryposis, Distal, Type 1C
Narrow mouth, High palate, Bifid uvula, Metacarpophalangeal joint contracture, Rocker bottom foot... OMIM:619110
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, 2-3 toe syndactyly, Cleft palate, Cutaneous finger syndactyly, Split hand, Split ... DECIPHER:46
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Acetabular erosions, Bifid uvula OMIM:601492
Orofaciodigital Syndrome Xviii
Accessory oral frenulum, Short philtrum, Brachydactyly, Single transverse palmar crease, Sandal g... OMIM:617927
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Cardiomyopathy, Ventricular septal defect, Premature birth... ORPHA:1909
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Camptodactyly of finger, Bifid uvula, Cleft palate ORPHA:2521
Limb-Mammary Syndrome
Bifid uvula, Hypodontia, Syndactyly, Cleft palate, Hallux valgus, Camptodactyly, Split hand, Spli... OMIM:603543
Bardet-Biedl Syndrome 7
Clinodactyly, Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly OMIM:615984
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, Hypodontia, Tapered finger, Aplasia/Hypoplasia of the distal phalanges of t... ORPHA:3201
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of t... OMIM:192445
Postaxial Oligodactyly, Tetramelic
Single transverse palmar crease, Postaxial foot polydactyly, Partial-complete absence of 5th phal... OMIM:176240
Ulnar Agenesis And Endocardial Fibroelastosis
Hand oligodactyly, Endocardial fibroelastosis, Hydrops fetalis, Aplasia of the ulna, Neonatal death OMIM:276822
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Orofaciodigital Syndrome Xi
Cleft palate, Postaxial polydactyly OMIM:612913
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Hydrops fetalis, Squared ili... OMIM:215045
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Postaxial polydactyly, Broad hallux, Double outlet right ... OMIM:217095
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Upper limb undergrowth, Nonimmune hydrops fetalis, Hydrops fetalis OMIM:613124
Orofaciodigital Syndrome Viii
High palate, Polydactyly, Short tibia, Cleft palate, Median cleft lip, Syndactyly OMIM:300484
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate, Absent radius OMIM:179400
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Oral synechia, Cleft palate ORPHA:2016
Boomerang Dysplasia
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Hydrops fetalis, Mi... ORPHA:1263
Bardet-Biedl Syndrome 5
Brachydactyly, Syndactyly, Polydactyly OMIM:615983
Postaxial Tetramelic Oligodactyly
Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology, Abnormality of finger ORPHA:2730
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly, Finger syndactyly ORPHA:2935
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Triphalangeal Thumbs With Brachyectrodactyly
Brachydactyly, Short 2nd finger, Short 3rd toe, Triphalangeal thumb, Split hand, Split foot OMIM:190680
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Bifid uvula, Postaxial foot polydactyly, Non-midline cleft lip, Enamel h... ORPHA:2919
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, High palate, Clinodactyly, Bifid uvula, Long thumb,... OMIM:618658
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Postaxial hand polydactyly, Preaxial foot polydactyly ORPHA:2091
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Finger syndactyly, Triphalangeal thumb, High, narrow palate, Short di... ORPHA:957
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Hydrops fetalis, Single umbilical artery, Polyhydramnios, Ve... ORPHA:3405
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Short long bone, Abnormality of the epiphysis of the femoral head, Sho... ORPHA:93316
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Short philtrum, Abnormality of the dentition, Thick upper lip vermilion, Thin upper lip vermilion... OMIM:226440
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Postaxial foot polydactyly, Ap... ORPHA:1113
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Preaxial foot polydactyly, Postaxial hand polydactyly, Bilateral triphalangeal thumbs OMIM:138790
Diffuse Neonatal Hemangiomatosis
Patent ductus arteriosus, Hydrops fetalis, Polyhydramnios, Ascites, Premature birth ORPHA:2123
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Stillbirth, Peric... OMIM:618773
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Orofaciodigital Syndrome Type 10
Accessory oral frenulum, Hypoplasia of proximal radius, Long philtrum, Cleft soft palate, Multipl... ORPHA:2756
Intellectual Developmental Disorder, X-Linked 90
High palate, Bifid uvula OMIM:300850
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Ectrodactyly, Aplasia/Hyp... OMIM:605289
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Bardet-Biedl Syndrome 6
Syndactyly, Polydactyly OMIM:605231
Achondrogenesis, Type Ib
Hydrops fetalis, Micromelia, Breech presentation, Polyhydramnios, Umbilical hernia, Edema, Hypopl... OMIM:600972
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Orofaciodigital Syndrome Iv
Accessory oral frenulum, High palate, Tongue nodules, Clinodactyly, Foot polydactyly, Brachydacty... OMIM:258860
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Acrorenal Syndrome
Abnormality of the ulna, Abnormality of tibia morphology, Split hand, Cleft palate, Aplasia/Hypop... ORPHA:971
Orofaciodigital Syndrome Vi
Accessory oral frenulum, High palate, Tongue nodules, Clinodactyly, Cleft upper lip, Brachydactyl... OMIM:277170
Cardiomyopathy, Familial Restrictive, 6
Hydrops fetalis, Restrictive cardiomyopathy, Pulmonic stenosis, Ascites OMIM:619433
Brachydactyly-Syndactyly Syndrome
Brachydactyly, Finger syndactyly, Oligodactyly, Short phalanx of finger, Short digit, Camptodacty... OMIM:610713
Meckel Syndrome, Type 8
Cleft upper lip, Polydactyly, Postaxial hand polydactyly, Talipes equinovarus, Cleft palate OMIM:613885
Transaldolase Deficiency
Atrial septal defect, Biventricular hypertrophy, Hydrops fetalis, Coarctation of aorta, Edema ORPHA:101028
Heart-Hand Syndrome Type 2
Brachydactyly, Abnormality of the ulna, Abnormal palate morphology, Short 5th metacarpal, Aplasia... ORPHA:1350
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Clinodactyly, Partial duplication of the phalanx of hand, Long philtrum, Thin uppe... OMIM:616331
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Short neck, Overlapping fingers, Hydrops fetalis, Adducted thumb, Fetal akinesi... OMIM:617022
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Hand oligodactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Hydrops Fetalis
Increased placental thickness, Nonimmune hydrops fetalis, Pleural effusion, Abnormal heart morpho... ORPHA:1041
Bardet-Biedl Syndrome 4
Brachydactyly, Abnormality of the dentition, Syndactyly, Polydactyly OMIM:615982
Dysplastic Cortical Hyperostosis
Limb undergrowth, Hydrops fetalis, Polyhydramnios, Abnormality of limb bone morphology ORPHA:2204
Coloboma Of Macula And Skeletal Anomalies
Coxa valga, Contracture of the distal interphalangeal joint of the 5th finger, Hallux valgus, Gen... OMIM:216800
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Elbo... ORPHA:2631
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Patent ductus arteriosus, Atrial septal defect, Hydrops fetalis, Vascular ring,... OMIM:601927
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Nonimmune hydrops fetalis, Cardiomyopathy, Redundant neck skin OMIM:619003
Isolated Childhood Apraxia Of Speech
Submucous cleft hard palate, Drooling, High, narrow palate ORPHA:209908
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Fetal akinesia sequence, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hydrops fetalis OMIM:618815
Achondrogenesis Type 1B
Short neck, Cystic hygroma, Hydrops fetalis, Micromelia, Thickened nuchal skin fold, Polyhydramni... ORPHA:93298
Stickler Syndrome, Type Ii
Pierre-Robin sequence, Bifid uvula, High, narrow palate, Arachnodactyly, Long fingers, Cleft palate OMIM:604841
Achondrogenesis Type 1A
Short neck, Short palm, Cystic hygroma, Hydrops fetalis, Micromelia, Thickened nuchal skin fold, ... ORPHA:93299
Klippel-Trénaunay Syndrome
Upper limb asymmetry, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Atrial septa... ORPHA:90308
Cleft Lip With Or Without Cleft Palate
Submucous cleft of soft and hard palate, Non-midline cleft palate, Non-midline cleft lip ORPHA:1991
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot OMIM:313350
Oculofaciocardiodental Syndrome
Long philtrum, Hammertoe, Clinodactyly of the 5th finger, Broad palm, Short thumb, Flexion contra... ORPHA:2712
Congenital Disorder Of Glycosylation, Type Ik
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:608540
Achondrogenesis, Type Ii
Cystic hygroma, Hydrops fetalis, Hypoplastic iliac wing, Polyhydramnios, Short long bone, Broad l... OMIM:200610
Infantile Sialic Acid Storage Disease
Metaphyseal irregularity, Hydrops fetalis, Ascites, Cardiomegaly, Premature birth OMIM:269920
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly, Hydrops fetalis OMIM:618052
Coffin-Siris Syndrome 11
High palate, Bifid uvula, Cleft soft palate, Esophageal atresia, Small hand, Downturned corners o... OMIM:618779
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Split foot, Hypoplasia of the ulna, Short finger, Syndactyly OMIM:314360
Achondrogenesis
Short neck, Cystic hygroma, Hydrops fetalis, Micromelia, Thickened nuchal skin fold, Polyhydramni... ORPHA:932
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Postaxial hand polydactyly OMIM:615938
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Clinodactyly of the 5th finger, Preaxial polydactyly, Carious teeth, Midline n... OMIM:129540
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Cleft upper lip, Overlapping fingers, Micromelia, Limb undergrowth, Camptodactyly, Cleft palate, ... OMIM:601016
Mesoaxial Hexadactyly And Cardiac Malformation
Abnormal 3rd finger morphology, Patent ductus arteriosus, Atrial septal defect, Hand polydactyly,... OMIM:249670
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Cleft palate OMIM:618768
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Webbed neck, Short neck, Ascites, Decreased fibular diameter, Hydrops fetalis, Hypertrophic cardi... OMIM:616897
Rosselli-Gulienetti Syndrome
Cleft upper lip, Hypodontia, Microdontia, Abnormality of the philtrum, Palmoplantar hyperkeratosi... OMIM:225000
Arthrogryposis, Distal, Type 3
High palate, Bifid uvula, Single transverse palmar crease, Short phalanx of finger, Congenital hi... OMIM:114300
Orofaciodigital Syndrome Iii
Tongue nodules, Bifid uvula, Postaxial foot polydactyly, Short sternum, Microdontia, Supernumerar... OMIM:258850
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Bifid uvula, Long philtrum, Drooling, Abnormality of the dentition, Clinodactyly of ... ORPHA:576283
Weyers Ulnar Ray/Oligodactyly Syndrome
Absent thumb, High palate, Solitary median maxillary central incisor, Cleft upper lip, Hand oligo... OMIM:602418
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Genu varum, Abnormal carpal morphology, Short palm, Hydrops fetalis, Hy... ORPHA:85166
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate OMIM:137215
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Sandal gap, Short metacarpal, ... OMIM:617102
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Unilateral cleft lip, Bifid uvula, Cleft palate ORPHA:2736
Bardet-Biedl Syndrome 9
Brachydactyly, Postaxial foot polydactyly, Polydactyly, Postaxial hand polydactyly, Postaxial pol... OMIM:615986
Facial Clefting, Oblique, 1
Deep palmar crease, Cleft upper lip, Cleft palate OMIM:600251
Acromesomelic Dysplasia 2A
Acromesomelia, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Short phalanx o... OMIM:200700
Tetramelic Monodactyly
Split hand, Split foot, Foot monodactyly, Hand monodactyly OMIM:187510
Weyers Acrofacial Dysostosis
Brachydactyly, Short palm, Postaxial foot polydactyly, Clinodactyly of the 5th finger, Postaxial ... OMIM:193530
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Brachydactyly, Oligodactyly, Ectrodactyly, Talipes equinovarus, Split hand OMIM:612576
Robin Sequence With Cleft Mandible And Limb Anomalies
Bifid uvula, Fibular hypoplasia, Clinodactyly of the 5th finger, Short thumb, Cleft lower alveola... OMIM:268305
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Lymphatic Malformation 7
Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial eff... OMIM:617300
W Syndrome
Clinodactyly, Hypoplasia of the ulna, Broad uvula, Upper lip pit, Elbow dislocation, Metatarsus a... ORPHA:2804
Hb Bart'S Hydrops Fetalis
Hydrops fetalis, Polyhydramnios, Preeclampsia, Pericarditis, Oligohydramnios ORPHA:163596
Orofaciodigital Syndrome X
Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia, Cleft... OMIM:165590
Trisomy 1Q
Toe syndactyly, Cystic hygroma, Patent ductus arteriosus, Hydrops fetalis, Arachnodactyly, Preaxi... ORPHA:261344
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate, Polydactyly OMIM:607361
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
High palate, Bifid uvula, Median cleft lip OMIM:155145
Glycogen Storage Disease Iv
Hydrops fetalis, Decreased fetal movement, Polyhydramnios, Cardiomyopathy, Ascites, Edema OMIM:232500
Pallister W Syndrome
Clinodactyly, Hypoplasia of the ulna, Broad uvula, Joint contracture of the hand, Agenesis of cen... OMIM:311450
Mulibrey Nanism
Single transverse palmar crease, Pericardial constriction, Thickened cortex of long bones, Hydrop... OMIM:253250
Orofaciodigital Syndrome Xvii
Clinodactyly, Central Y-shaped metacarpal, Partial duplication of thumb phalanx, High, narrow pal... OMIM:617926
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Bifid uvula, Absent thumb OMIM:619239
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Pleural effusion, Pulmonic stenosis, Ascites, Chylopericardium ORPHA:2414
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Flat capital femoral epiphysis, High palate, Wide capital femoral epiphyses, Patellar hypoplasia,... OMIM:147891
Neuraminidase Deficiency
Epiphyseal stippling, Hydrops fetalis, Bone-marrow foam cells, Cardiomyopathy, Ascites, Cardiomeg... OMIM:256550
Au-Kline Syndrome
High palate, Hip dysplasia, Open mouth, Oligodontia, Overlapping toe, Deep palmar crease, Postaxi... OMIM:616580
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate, Preaxial foot polydactyly OMIM:614120
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial polydactyly OMIM:617127
Fibrochondrogenesis 1
Hypoplastic ischia, Short neck, Short palm, Patent foramen ovale, Fibular hypoplasia, Rhizomelia,... OMIM:228520
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Flat capital femoral epiphysis, High palate, Flattened epiphysis, Bifid uvula, Delayed eruption o... OMIM:612350
Chromosome 17Q12 Duplication Syndrome
Brachydactyly, Cleft soft palate, Esophageal atresia, Smooth philtrum, Broad thumb OMIM:614526
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Fibular hypoplasia, Aplasia/... ORPHA:2098
Mosaic Trisomy 9
Endocardial fibroelastosis, Dextrocardia, Micromelia, Spina bifida, Ventricular septal defect, Ol... ORPHA:99776
Orofaciodigital Syndrome Type 2
Broad first metatarsal, Agenesis of central incisor, Mesomelic leg shortening, Hamartoma of tongu... ORPHA:2751
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Bilateral talipes equinovarus, Patent ductus arteriosus, Atrial septal defect, Overlapping finger... OMIM:618142
Trisomy 13
Abnormality of pelvic girdle bone morphology, Cystic hygroma, Patent ductus arteriosus, Atrial se... ORPHA:3378
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Lower lip pit, Hypodontia, Lip pit, Cleft pa... ORPHA:888
Schilbach-Rott Syndrome
Narrow mouth, Clinodactyly, Bifid uvula, 3-4 finger cutaneous syndactyly, Submucous cleft hard pa... OMIM:164220
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Polysyndactyly of hallux, Preaxial foot polydactyly OMIM:235750
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Bifid uvula, Cleft palate ORPHA:506353
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Brachydactyly, Toe syndactyly, Broad toe, Bifid uvula, 2-3 toe syndactyly, Postaxial foot polydac... OMIM:263540
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Bowing of the long bones, Brachydactyly, Short long bone, Cystic hygroma, Ascites, Hydrops fetali... OMIM:614091
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Bifid uvula, Single transverse palmar crease, Open mouth, Thick lower lip vermilion,... OMIM:617412
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Postaxial polydactyly, Limb undergrowth, Atrioventricular... OMIM:619142
Carpenter Syndrome
Brachydactyly, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Polydactyly, Postaxi... ORPHA:65759
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Fibular duplication, Short fo... OMIM:135750
Temple Syndrome
Short philtrum, High palate, Clinodactyly, Bifid uvula, Small hand, Cleft palate, Short foot OMIM:616222
Greig Cephalopolysyndactyly Syndrome
Toe syndactyly, Finger syndactyly, Postaxial foot polydactyly, Preaxial hand polydactyly, Postaxi... ORPHA:380
Joubert Syndrome 20
Syndactyly, Postaxial polydactyly OMIM:614970
Hemifacial Microsomia With Radial Defects
Non-midline cleft lip, Triphalangeal thumb, Oral cleft, Complete duplication of thumb phalanx, Cl... OMIM:141400
Camptobrachydactyly
Brachydactyly, Hand polydactyly, Short toe, Congenital finger flexion contractures, Syndactyly OMIM:114150
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Carpal synostosis, Oligodontia of primary teeth, Tarsal synostosis, Abnormality of the wrist, Cle... ORPHA:2010
Meckel Syndrome, Type 2
Bowing of the long bones, Postaxial hand polydactyly, Cleft palate, Polydactyly OMIM:603194
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Bowing of the long bones, Short palm, Oligodontia, Sandal gap, Short ... ORPHA:90650
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Postaxial foot polydactyly, Atrial septal defect, Postaxial hand polydact... OMIM:615981
Temtamy Preaxial Brachydactyly Syndrome
Brachydactyly, Clinodactyly, Carpal synostosis, Short metacarpal, Microdontia, Deep philtrum, Sho... OMIM:605282
Achondrogenesis, Type Ia
Hypoplastic ischia, Short neck, Hydrops fetalis, Hypoplastic scapulae, Hypoplasia of the radius, ... OMIM:200600
Adducted Thumbs Syndrome
High palate, Cleft palate, High, narrow palate, Velopharyngeal insufficiency OMIM:201550
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the legs, Hypoplastic ischia, Hypoplastic pubic bone, Short neck, Hydrops fetalis, Micr... ORPHA:1865
Bardet-Biedl Syndrome 19
Polydactyly OMIM:615996
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
High palate, Upper limb asymmetry, Clinodactyly of the 5th finger, Polydactyly, Dental crowding ORPHA:231140
Polydactyly-Myopia Syndrome
Postaxial hand polydactyly ORPHA:2917
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Absent radius, Absent tibia, Mirror image polydactyly, Aplasia... ORPHA:2378
Joubert Syndrome 10
Postaxial polydactyly OMIM:300804
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Cleft Lip/Palate
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... ORPHA:199306
Say Syndrome
Ulnar deviation of the 3rd finger, Short distal phalanx of finger, Tapered finger, Cleft palate OMIM:181180
Mend Syndrome
High palate, 2-3 toe syndactyly, Overlapping fingers, Polydactyly, Long fingers, Overlapping toe OMIM:300960
Split-Hand/Foot Malformation 3
Narrow mouth, High palate, Camptodactyly, Split hand, Cleft palate OMIM:246560
Meckel Syndrome, Type 5
Bowing of the long bones, Cleft upper lip, Postaxial foot polydactyly, Postaxial hand polydactyly... OMIM:611561
Sialidosis Type 2
Hydrops fetalis, Umbilical hernia, Pedal edema, Ascites ORPHA:87876
Moebius Syndrome
Brachydactyly, High palate, Clinodactyly, Bifid uvula, Abnormality of pelvic girdle bone morpholo... OMIM:157900
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Brachydactyly, Short long bone, Postaxial polydactyly OMIM:615633
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Cleft palate, Non-midline cleft lip ORPHA:1072
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Retinitis Pigmentosa 89
Bicuspid aortic valve, Postaxial polydactyly OMIM:618955
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Postaxial hand polydactyly OMIM:615937
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate OMIM:217150
Branchiogenic-Deafness Syndrome
Submucous cleft hard palate, Short distal phalanx of finger, Branchial cyst, Branchial fistula OMIM:609166
Craniosynostosis 2
Cleft soft palate, Triphalangeal thumb, Supernumerary tooth, Brachydactyly OMIM:604757
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Overlapping fingers, Hydrops fetalis, Short middle phalanx of the 4th finger, Radioulnar synostos... OMIM:616738
Congenital Enterovirus Infection
Hydrops fetalis, Myocarditis, Decreased fetal movement, Pleural effusion, Polyhydramnios, Cardiom... ORPHA:292
Bardet-Biedl Syndrome 3
Brachydactyly, Postaxial polydactyly OMIM:600151
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Short neck, Atrial septal defect, Hydrops fetalis, Aplastic clavicle, Preaxial polydactyly, Anenc... OMIM:616546
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Accessory oral frenulum, High palate, Bifid uvula, Short femoral neck, Cone-shaped epiphysis, Mic... OMIM:266920
Buratti-Harel Syndrome
High palate, Bifid uvula, Velopharyngeal insufficiency, Clinodactyly of the 5th finger, Broad hal... OMIM:619314
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Hip dysplasia, Cleft palate, Hip disloca... ORPHA:93322
Birk-Barel Syndrome
Submucous cleft soft palate, High palate, Short philtrum, Bifid uvula, Single transverse palmar c... OMIM:612292
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Brachydactyly, Single transverse palmar crease, Long philtrum, 2-3 toe syndactyly, Velopharyngeal... OMIM:614701
Greenberg Dysplasia
Toxemia of pregnancy, Broad palm, Micromelia, Absent distal phalanges, Brachydactyly, Nonimmune h... OMIM:215140
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Cleft lip, Cleft palate OMIM:616898
Joubert Syndrome 32
Hypertrophic cardiomyopathy, Postaxial polydactyly OMIM:617757
Cardiac Valvular Defect, Developmental
Patent foramen ovale, Tricuspid atresia, Hydrops fetalis, Tricuspid valve prolapse, Mitral stenos... OMIM:212093
Joubert Syndrome 18
Camptodactyly, Ventricular septal defect, Polydactyly OMIM:614815
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Hypoplasia of the ulna, Cleft upper lip, Short long bone, Fibular hypoplasia, Abse... OMIM:613091
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Fetal distress, Maternal diabetes ORPHA:45452
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Brachydactyly, Hypoplasia of the radius, Micromelia, Ventricular septal defect, Postaxial polydac... OMIM:617895
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Brachydactyly, Postaxial polydactyly, Preaxial polydactyly, Acetabular spurs, Ventricular septal ... OMIM:615503
Burn-Mckeown Syndrome
Narrow mouth, Short philtrum, Bifid uvula, Cleft upper lip, 2-3 toe syndactyly, Thin vermilion bo... OMIM:608572
Kleefstra Syndrome 2
Bifid uvula, Everted lower lip vermilion OMIM:617768
Hydrolethalus
Bifid uvula, Unilateral cleft lip, Submucous cleft hard palate, Micromelia, Postaxial hand polyda... ORPHA:2189
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis, Syndactyly OMIM:224120
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Cleft palate, Aplasia/Hypoplasia of the radius, Non-midline cleft lip ORPHA:2476
3P25.3 Microdeletion Syndrome
Acromesomelia, Congenital pseudoarthrosis of the clavicle, Patent ductus arteriosus, Atrial septa... ORPHA:435638
Gm1 Gangliosidosis
Premature birth, Abnormality of epiphysis morphology, Patent ductus arteriosus, Hydrops fetalis, ... ORPHA:354
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Postaxial hand polydactyly, Foot polydactyly ORPHA:2155
Cardiocranial Syndrome, Pfeiffer Type
Slender finger, Small hypothenar eminence, Bifid uvula, Contracture of the proximal interphalange... ORPHA:2872
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Broad hallux, Postaxial hand... OMIM:217085
Meckel Syndrome, Type 10
Cleft palate, Postaxial polydactyly OMIM:614175
Congenital Disorder Of Glycosylation, Type Id
High palate, Clinodactyly, Bifid uvula, Adducted thumb, Long fingers, Clinodactyly of the 5th toe... OMIM:601110
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Nonimmune hydrops fetalis, Premature birth OMIM:618838
Campomelia, Cumming Type
Bowing of the long bones, Brachydactyly, Cystic hygroma, Hydrops fetalis, Micromelia, Lymphedema,... ORPHA:1318
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Narrow mouth, High palate, Short philtrum, Bifid uvula, Clinodactyly, Pyloric stenosis, Small han... ORPHA:96184
Otospondylomegaepiphyseal Dysplasia
Brachydactyly, Abnormal pelvis bone morphology, Bifid uvula, Short metacarpal, Sandal gap, Flared... ORPHA:1427
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft palate, Cleft lip OMIM:612370
Orofaciodigital Syndrome V
High palate, Bifid uvula, Postaxial foot polydactyly, Lobulated tongue, Hypodontia, Sandal gap, A... OMIM:174300
Fetal Gaucher Disease
Hydrops fetalis, Decreased fetal movement, Fetal akinesia sequence, Neonatal death, Stillbirth ORPHA:85212
Mohr Syndrome
Accessory oral frenulum, High palate, Tongue nodules, Brachydactyly, Metaphyseal irregularity, Po... OMIM:252100
Greig Cephalopolysyndactyly Syndrome
Postaxial foot polydactyly, Preaxial foot polydactyly, Broad hallux, Abnormal heart morphology, P... OMIM:175700
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Clinodactyly, Cleft palate, Cleft lip OMIM:614838
Acromelic Frontonasal Dysostosis
Cleft upper lip, Preaxial polydactyly, U-Shaped upper lip vermilion, Polydactyly, Talipes equinov... OMIM:603671
Intellectual Developmental Disorder, Autosomal Dominant 23
Long philtrum, Drooling, Sandal gap, Broad distal phalanx of finger, Dental crowding, Smooth phil... OMIM:615761
Desbuquois Dysplasia 2
Genu varum, Bifid uvula, Long philtrum, Metaphyseal widening, Broad thumb, Cleft palate, Hip disl... OMIM:615777
Alg8-Cdg
Brachydactyly, Hydrops fetalis, Edema, Ascites, Camptodactyly, Premature birth, Talipes equinovar... ORPHA:79325
Mucopolysaccharidosis, Type Vii
Umbilical hernia, Abnormal heart valve morphology, Short neck, Proximal tapering of metacarpals, ... OMIM:253220
Mullegama-Klein-Martinez Syndrome
Short philtrum, Long philtrum, Clinodactyly of the 5th finger, Cleft lip, Polydactyly, Smooth phi... OMIM:301022
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Postaxial foot polyd... ORPHA:474
Lymphatic Malformation 6
Webbed neck, Chylothorax, Atrial septal defect, Nonimmune hydrops fetalis, Pleural effusion, Geni... OMIM:616843
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Pelger-Huet Anomaly
Short 5th metacarpal, Median cleft palate, Short 4th metacarpal, Upper limb undergrowth, Polydact... OMIM:169400
Mucopolysaccharidosis Type 7
Abnormal hip bone morphology, Short neck, Epiphyseal stippling, Hydrops fetalis, Diaphyseal thick... ORPHA:584
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:618839
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Genu valgum, Cleft palate OMIM:614880
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Premature birth, Nonimmune hydrops fetalis, Hypertrophic cardiomyopathy OMIM:618835
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Postaxial hand polydactyly, Short humerus, Aplasia/Hypoplasia of the ulna, Abnormalit... ORPHA:2491
Pai Syndrome
Abnormal oral frenulum morphology, Bifid uvula, Cleft palate, Median cleft lip ORPHA:1993
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrops fetalis, Pleural effusion, Predominantly lower limb lymphedema, Palpebral edema, Ascites,... ORPHA:69735
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate OMIM:614402
Minicore Myopathy With External Ophthalmoplegia
Hydrops fetalis, Polyhydramnios, Decreased fetal movement OMIM:255320
Chromosome 3Pter-P25 Deletion Syndrome
Atrioventricular canal defect, Tapered finger, Postaxial polydactyly OMIM:613792
Ivic Syndrome
Absent thumb, Small thenar eminence, Carpal synostosis, Hypoplasia of the ulna, Tetralogy of Fall... OMIM:147750
Syngap1-Related Developmental And Epileptic Encephalopathy
Narrow mouth, High palate, Abnormal tongue physiology, Postaxial polydactyly, Thin vermilion bord... ORPHA:544254
Stickler Syndrome, Type I
Pierre-Robin sequence, Bifid uvula, Submucous cleft hard palate, Irregular femoral epiphysis, Ara... OMIM:108300
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Single transverse palmar crease, 2-3 toe syndactyly, Preaxial ... OMIM:617866
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Short neck, Abnormal heart valve morphology, Hydrops fetalis, Hypertrophi... OMIM:230500
Temple Syndrome
Clinodactyly of the 5th finger, Bifid uvula, Short foot, Small hand ORPHA:254516
Diamond-Blackfan Anemia 6
Bifid uvula, Cleft upper lip, Triphalangeal thumb, Short thumb, Cleft palate OMIM:612561
Joubert Syndrome 17
Syndactyly, Polydactyly OMIM:614615
Joubert Syndrome 23
Polydactyly OMIM:616490
Scalp Defects-Postaxial Polydactyly Syndrome
Postaxial polydactyly type A ORPHA:1003
Orofaciodigital Syndrome Ix
Accessory oral frenulum, High palate, Toe syndactyly, Hand polydactyly, Short tibia, Abnormality ... OMIM:258865
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Long philtrum, Camptodactyly of finger, Sandal gap, Submucous cleft hard palat... ORPHA:178303
Bardet-Biedl Syndrome 17
Brachydactyly, Mesoaxial polydactyly, Postaxial foot polydactyly, Dextrocardia, Situs inversus to... OMIM:615994
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Brachydactyly, Disproportionate shortening of the tibia, Atrial septal defect, Hydrops fetalis, P... OMIM:263520
Meier-Gorlin Syndrome 5
Clinodactyly, Long philtrum, Elbow dislocation, Submucous cleft hard palate, Irregular femoral ep... OMIM:613805
Orofaciodigital Syndrome Type 3
Bifid uvula, Postaxial foot polydactyly, Short sternum, Lobulated tongue, Hamartoma of tongue, Po... ORPHA:2752
Limb-Mammary Syndrome
Submucous cleft soft palate, Toe syndactyly, Bifid uvula, 3-4 finger cutaneous syndactyly, Clinod... ORPHA:69085
Nephronophthisis 15
Polydactyly OMIM:614845
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Long philtrum, 2-3 toe syndactyly, Postaxial foot polydactyly, Intestinal malrotatio... ORPHA:404440
Phocomelia, Schinzel Type
Bowing of the long bones, Short neck, Hand oligodactyly, Hydrops fetalis, Aplasia/Hypoplasia invo... ORPHA:2879
Joubert Syndrome 7
Postaxial hand polydactyly, Postaxial polydactyly OMIM:611560
Cree Mental Retardation Syndrome
Cleft soft palate, Cutaneous finger syndactyly, Rocker bottom foot OMIM:606851
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Restrictive card... OMIM:619313
Endocrine-Cerebroosteodysplasia
Brachydactyly, Cleft upper lip, Sandal gap, Preaxial polydactyly, Polydactyly, Natal tooth, Micro... OMIM:612651
Alg9-Cdg
Ventricular septal defect, Narrow greater sciatic notch, Pericardial effusion, Oligohydramnios, S... ORPHA:79328
Bardet-Biedl Syndrome 8
Situs inversus totalis, Polydactyly OMIM:615985
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly OMIM:615824
Vertebral Hypersegmentation And Orofacial Anomalies
Submucous cleft hard palate, Unilateral cleft palate, Unilateral cleft lip, Scapular winging OMIM:619122
Tarp Syndrome
Clinodactyly, Tetralogy of Fallot, Single transverse palmar crease, Cutaneous syndactyly, Short s... OMIM:311900
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Short philtrum, Bifid uvula, Long philtrum, Drooling, 2-3 toe syndactyly, Adducted thumb, Proxima... OMIM:619121
Hemochromatosis, Neonatal
Nonimmune hydrops fetalis, Oligohydramnios OMIM:231100
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Short philtrum, Bifid uvula, Single transverse palmar crease, Bilateral cleft lip, Rocker bottom ... OMIM:618622
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Nonimmune hydrops fetalis, Abnormal cardiomyocyte morphology, Fetal akine... ORPHA:367
Suleiman-El-Hattab Syndrome
Brachydactyly, High palate, Clinodactyly, Single transverse palmar crease, Long philtrum, Droolin... OMIM:618950
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Submucous cleft soft palate, Palmoplantar keratoderma, Finger syndactyly, Delayed eruption of tee... ORPHA:1071
Rapp-Hodgkin Syndrome
Narrow mouth, Bifid uvula, Cleft upper lip, Velopharyngeal insufficiency, Conical tooth, Hypodont... OMIM:129400
Osteogenesis Imperfecta, Type Ii
Abnormality of pelvic girdle bone morphology, Tibial bowing, Nonimmune hydrops fetalis, Crumpled ... OMIM:166210
Autosomal Recessive Centronuclear Myopathy
Narrow mouth, High palate, Bifid uvula, Long fingers, Talipes equinovarus, Scapular winging ORPHA:169186
Mgat2-Cdg
Brachydactyly, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, Ventricular ... ORPHA:79329
Cranioectodermal Dysplasia 2
Brachydactyly, Clinodactyly, Short neck, Patent foramen ovale, Patent ductus arteriosus, Cystic h... OMIM:613610
Gm1 Gangliosidosis Type 1
Abnormal placenta morphology, Flared iliac wing, Hydrops fetalis, Flattened femoral head, Broad m... ORPHA:79255
Zimmermann-Laband Syndrome
High palate, Bifid uvula, Gingival fibromatosis, Hypodontia, Supernumerary tooth, Macroglossia, D... ORPHA:3473
Osteopathia Striata-Cranial Sclerosis Syndrome
Bifid uvula, Delayed eruption of teeth, High, narrow palate, Submucous cleft hard palate, Abnorma... ORPHA:2780
20P13 Microdeletion Syndrome
Brachydactyly, Clinodactyly, Finger syndactyly, Tented upper lip vermilion, Polydactyly, Smooth p... ORPHA:313781
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Long philtrum, Sandal gap, High, narrow palate, Submucous cleft hard palate, Smooth ... OMIM:612863
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Short long bone, Polydactyly OMIM:613819
Yunis-Varon Syndrome
Abnormal pelvis bone morphology, Tapered finger, Ventricular septal defect, Short toe, Aplasia of... ORPHA:3472
Mitochondrial Trifunctional Protein Deficiency
Prenatal maternal abnormality, Dilated cardiomyopathy, Hydrops fetalis, Abnormality of the amniot... OMIM:609015
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Talipes equinovarus, Cleft palate, Thick vermilion border ORPHA:250999
Silver-Russell Syndrome Due To A Point Mutation
Clinodactyly of the 5th finger, Short 5th finger, Polydactyly, Ectrodactyly, Cleft palate, Syndac... ORPHA:397590
Alpha-Thalassemia
Hydrops fetalis ORPHA:846
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Ventricular septal defect, Polydactyly OMIM:602501
Lymphangiectasia, Pulmonary, Congenital
Chylothorax, Nonimmune hydrops fetalis, Pleural effusion, Palpebral edema, Chylous ascites, Polyh... OMIM:265300
Hypomelia With Mullerian Duct Anomalies
Split hand, Postaxial hand polydactyly OMIM:146160
Blomstrand Lethal Chondrodysplasia
Bowing of the long bones, Abnormality of epiphysis morphology, Short metacarpal, Rhizomelia, Apla... ORPHA:50945
Mycophenolate Mofetil Embryopathy
Foot polydactyly, Short palm, Hydrops fetalis, Coarctation of aorta, Ventricular septal defect ORPHA:268249
Lymphatic Malformation 1
Nonimmune hydrops fetalis, Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema OMIM:153100
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bifid uvula, Cleft upper lip, Cleft palate OMIM:300958
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Postaxial polydactyly OMIM:603387
Intellectual Developmental Disorder, Autosomal Dominant 36
Deviation of the 5th finger, Hip dysplasia, Broad hallux, Postaxial polydactyly OMIM:616362
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Narrow mouth, Bifid uvula, Delayed eruption of teeth, Clinodactyly of the 5th finger, Submucous c... OMIM:300990
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis ORPHA:766
Free Sialic Acid Storage Disease
Ascites, Hydrops fetalis, Abnormality of the upper limb ORPHA:834
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Palmar telangiectasia, Nonimmune hydrops fetalis, Palpebral edema, Predominantly lower limb lymph... OMIM:607823
Marbach-Schaaf Neurodevelopmental Syndrome
Brachydactyly, Tapered finger, Submucous cleft hard palate, Thin upper lip vermilion, Downturned ... OMIM:619680
Myhre Syndrome
Narrow mouth, Brachydactyly, Bifid uvula, Short palm, Abnormality of epiphysis morphology, Unilat... ORPHA:2588
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dysplastic tricuspid valve, Hypoplastic left heart, Ventricular septal defect, Atrioventricular c... OMIM:265380
Cardioacrofacial Dysplasia 2
Brachydactyly, Clubbing, Postaxial foot polydactyly, Clinodactyly of the 5th finger, Postaxial ha... OMIM:619143
Cri-Du-Chat Syndrome
High palate, Short philtrum, Bifid uvula, Single transverse palmar crease, Short metacarpal, Thic... OMIM:123450
Culler-Jones Syndrome
Cleft upper lip, Cleft palate, Postaxial polydactyly OMIM:615849
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Postaxial hand polydactyly, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Postaxial polydactyly OMIM:219730
Gaucher Disease, Perinatal Lethal
Nonimmune hydrops fetalis, Decreased fetal movement, Desquamation of skin soon after birth, Polyh... OMIM:608013
Microphthalmia With Limb Anomalies
Toe syndactyly, Single transverse palmar crease, Hand oligodactyly, Postaxial foot polydactyly, F... OMIM:206920
Congenital Disorder Of Glycosylation, Type Iil
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, Postaxial polydactyly,... OMIM:614576
Orofaciodigital Syndrome Type 6
Tongue nodules, High palate, Brachydactyly, Foot polydactyly, Mesoaxial polydactyly, Central Y-sh... ORPHA:2754
Biemond Syndrome Type 2
Preaxial polydactyly ORPHA:141333
Farber Disease
Hydrops fetalis, CNS foam cells, Joint swelling, Short finger, Short toe, Ascites, Abnormality of... ORPHA:333
Nevus Comedonicus Syndrome
Toe syndactyly, Preaxial polydactyly, Finger syndactyly ORPHA:64754
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Narrow mouth, Brachydactyly, Finger syndactyly, Hy... ORPHA:989
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Brachydactyly, Bifid uvula, Macroglossia, Protruding tongue, Cleft palate OMIM:612938
S-Adenosylhomocysteine Hydrolase Deficiency
Hydrops fetalis, Cardiomyopathy ORPHA:88618
Joubert Syndrome 39
Hypoplastic left heart, Joint contracture of the 5th finger, Postaxial polydactyly OMIM:619562
Thai Symphalangism Syndrome
Brachydactyly, Postaxial foot polydactyly, Proximal symphalangism of hands, Distal symphalangism ... OMIM:608028
Fraser Syndrome 3
Hydrops fetalis, Short toe, Cutaneous syndactyly OMIM:617667
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypoplastic ischia, Polydactyly OMIM:616910
Hand-Foot-Genital Syndrome
Synostosis of carpal bones, Shortening of all middle phalanges of the fingers, Clinodactyly of th... ORPHA:2438
Frontometaphyseal Dysplasia
Bifid uvula, Metaphyseal widening, Short diaphyses, Cleft palate, Shoulder muscle hypoplasia, Sin... ORPHA:1826
Septooptic Dysplasia
Short finger, Polydactyly OMIM:182230
Auriculocondylar Syndrome
Narrow mouth, Bifid uvula, Hamartoma of tongue, Microglossia, Dental crowding, Glossoptosis, Mand... ORPHA:137888
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Cleft upper lip, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus... OMIM:601027
Carpenter Syndrome 1
Genu varum, Joint contracture of the hand, Clinodactyly of the 5th finger, Complete duplication o... OMIM:201000
Frontonasal Dysplasia 1
Brachydactyly, Clinodactyly, Tetralogy of Fallot, Pectoral muscle hypoplasia/aplasia, Postaxial h... OMIM:136760
Bardet-Biedl Syndrome 20
2-3 toe syndactyly, Atrial septal defect, Postaxial hand polydactyly, Postaxial polydactyly, Prea... OMIM:619471
Rhombencephalosynapsis
Narrow mouth, Finger syndactyly, Tracheoesophageal fistula, Aganglionic megacolon, Short phalanx ... ORPHA:59315
Joubert Syndrome 16
Polydactyly OMIM:614465
Orofaciodigital Syndrome Type 4
Genu varum, Bifid uvula, Abnormality of the tongue, High, narrow palate, Micromelia, Cleft palate... ORPHA:2753
Otopalatodigital Syndrome Type 2
Narrow mouth, Pierre-Robin sequence, Carpal synostosis, Synostosis of carpal bones, Bowing of the... ORPHA:90652
Bardet-Biedl Syndrome 1
Brachydactyly, Foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Left ventricu... OMIM:209900
Gaucher Disease Type 3
Abnormal myocardium morphology, Abnormal heart valve morphology, Hydrops fetalis, Mitral valve ca... ORPHA:77261
Joubert Syndrome 15
Polydactyly OMIM:614464
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Bifid uvula, Long philtrum, Short palm, Small hand, Thin vermilion border, Short foot OMIM:241410
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Short philtrum, Bifid uvula, Single transverse palmar crease, Thick lower lip vermilion, High, na... OMIM:309583
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Pierre-Robin sequence, High palate, Submucous cleft soft palate... OMIM:608670
Joubert Syndrome 24
Talipes equinovarus, Postaxial hand polydactyly OMIM:616654
Spondyloepiphyseal Dysplasia Congenita
Pierre-Robin sequence, Flattened epiphysis, Bifid uvula, Delayed pubic bone ossification, Delayed... OMIM:183900
Joubert Syndrome 14
Postaxial polydactyly OMIM:614424
Steinfeld Syndrome
Hypoplasia of the ulna, Bifid uvula, Phocomelia, Aplasia/Hypoplasia of the thumb, Hypoplasia of t... OMIM:184705
Joubert Syndrome 37
Postaxial polydactyly OMIM:619185
Aminopterin Syndrome Sine Aminopterin
Brachydactyly, Clinodactyly, Syndactyly, Short thumb, Arachnodactyly, Rudimentary postaxial polyd... OMIM:600325
Loeys-Dietz Syndrome 5
Hiatus hernia, High palate, Bifid uvula, Cleft soft palate, Bilateral coxa valga, Increased arm s... OMIM:615582
Macrodactyly
Macrodactyly OMIM:155500
9Q21.13 Microdeletion Syndrome
Abnormal tongue morphology, Hip dysplasia, Downturned corners of mouth, Polydactyly ORPHA:531151
Lenz-Majewski Hyperostotic Dwarfism
Brachydactyly, Bifid uvula, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:2658
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Patent ductus arteriosus, Atrial septal defect, Tapered finger, Hip dislocation, Small hand, Post... OMIM:300968
Amish Lethal Microcephaly
Cleft soft palate ORPHA:99742
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Unilateral cleft palate, Unilateral cleft lip, Thick lower lip vermilion, Submucous cleft hard pa... OMIM:619103
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Split hand, Foot polydactyly, Phocomelia, Duodenal atresia ORPHA:3004
Orofaciodigital Syndrome I
Tongue nodules, High palate, Clinodactyly, Agenesis of permanent teeth, Cleft upper lip, Brachyda... OMIM:311200
Hennekam Syndrome
Chylothorax, Finger syndactyly, Delayed eruption of teeth, Hydrops fetalis, Lymphedema, Ascites, ... ORPHA:2136
Apert Syndrome
Bifid uvula, Rhizomelic arm shortening, Cleft palate, Synostosis of carpal bones, Cutaneous synda... OMIM:101200
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Short philtrum, Cleft soft palate, Adducted thumb, Deep palmar crease, Smooth philtrum ORPHA:293725
Chondrodysplasia Punctata 2, X-Linked Dominant
Bilateral talipes equinovarus, Abnormality of pelvic girdle bone morphology, Rhizomelia, Epiphyse... OMIM:302960
Meckel Syndrome 12
Rocker bottom foot, Bifid uvula OMIM:616258
Joubert Syndrome 22
Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe syndactyly OMIM:615665
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Lobulated tongue, Preaxial polydactyly, Squared iliac bones, Anal atresia, Cleft lip,... OMIM:616300
Campomelic Dysplasia
Narrow iliac wing, Long philtrum, Fibular hypoplasia, Hypoplastic iliac wing, Hallux valgus, Shor... OMIM:114290
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Tetralogy of Fallot, Hypoplastic pubic bone, Short long b... OMIM:617925
Yunis-Varon Syndrome
Clinodactyly, Absent middle phalanx of 2nd finger, Aplasia/Hypoplasia of the distal phalanges of ... OMIM:216340
Tarp Syndrome
Clinodactyly, Tetralogy of Fallot, Hypoplasia of proximal radius, Single transverse palmar crease... ORPHA:2886
Pseudoaminopterin Syndrome
Brachydactyly, Slender finger, Synostosis of carpal bones, Single transverse palmar crease, Paten... ORPHA:221120
Pallister-Hall-Like Syndrome
Micromelia, Abnormal heart morphology, Postaxial hand polydactyly, Hip dislocation OMIM:241800
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Toe syndactyly, Metatarsus valgus, Abnormality of epiphysis morphology, Aplasia/Hypoplasia of toe... ORPHA:3082
3Mc Syndrome 3
Clinodactyly, Cleft upper lip, Preaxial polydactyly, Radioulnar synostosis, Cleft palate OMIM:248340
Congenital Disorder Of Glycosylation, Type Ia
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Cardiomyopathy, Pericardial effusion OMIM:212065
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Long philtrum, Congenital hip dislocation, Contracture of the proximal interphalange... ORPHA:457279
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Myocardial calcification, Medial calcification of medium-... ORPHA:51608
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Meier-Gorlin Syndrome 7
Narrow mouth, High palate, Bowing of the legs, Clubbing, 2-3 toe syndactyly, Anal stenosis, Preax... OMIM:617063
Blackfan-Diamond Anemia
Absent thumb, Webbed neck, Short neck, Atrial septal defect, Partial duplication of thumb phalanx... ORPHA:124
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Narrow mouth, Bowing of the long bones, Bifid uvula, Single transverse palmar crease, Coxa valga,... OMIM:130070
Branchiootorenal Syndrome 1
Branchial cyst, High palate, Bifid uvula, Intestinal malrotation, Microdontia, Congenital hip dis... OMIM:113650
Apert Syndrome
Ectopic anus, Toe syndactyly, Bifid uvula, Finger syndactyly, Delayed eruption of teeth, Aplasia/... ORPHA:87
Native American Myopathy
Submucous cleft soft palate, High palate, Bifid uvula, Talipes equinovarus, Camptodactyly, Downtu... ORPHA:168572
Loeys-Dietz Syndrome 4
High palate, Bifid uvula, Broad uvula, High, narrow palate, Protrusio acetabuli, Arachnodactyly, ... OMIM:614816
Capillary Malformation-Arteriovenous Malformation
Chylothorax, Abnormal heart morphology, Nonimmune hydrops fetalis, Lymphedema ORPHA:137667
Dubowitz Syndrome
Brachydactyly, High palate, Toe syndactyly, Abnormality of thumb phalanx, Delayed eruption of tee... ORPHA:235
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Bifid uvula, Contracture of the proximal interphalangeal joint of the 5th finger, Broad hallux, H... ORPHA:293967
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Brachydactyly, Abnormal 5th metacarpal morphology, Rhizomelic arm shortening, Cone-shaped epiphys... ORPHA:397715
Megalocornea-Mental Retardation Syndrome
High palate, Bifid uvula, Long philtrum, Arachnodactyly, Genu valgum OMIM:249310
Isolated Cleft Lip
Supernumerary maxillary incisor, Bilateral cleft lip, Non-midline cleft lip, Velopharyngeal insuf... ORPHA:199302
Ear-Patella-Short Stature Syndrome
Narrow mouth, Bifid uvula, Abnormality of epiphysis morphology, Clinodactyly of the 5th finger, A... ORPHA:2554
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Total anomalous pulmonary venous return, Fibular hypoplasia, Mesomelic leg shortening, Hypoplasti... OMIM:609945
Walker-Warburg Syndrome
Submucous cleft hard palate, Bifid uvula, Metatarsus valgus, Cleft palate ORPHA:899
Otopalatodigital Syndrome, Type Ii
Short thumb, Bulbous tips of toes, Irregular metacarpals, Broad hallux, Short metatarsal, Ulnar b... OMIM:304120
C Syndrome
Clinodactyly, Toe syndactyly, Postaxial foot polydactyly, Patent ductus arteriosus, Dislocated ra... OMIM:211750
Double Outlet Right Ventricle
Narrow mouth, Intestinal malrotation, Cleft palate, Submucous cleft hard palate ORPHA:3426
Khan-Khan-Katsanis Syndrome
Clinodactyly, Patent foramen ovale, Patent ductus arteriosus, Abnormal heart morphology, Postaxia... OMIM:618460
Cerebrocostomandibular Syndrome
High palate, Calcaneal epiphyseal stippling, Long philtrum, Anal stenosis, Elbow flexion contract... OMIM:117650
Congenital Sialidosis Type 2
Polydactyly, Abnormal heart morphology, Ascites, Umbilical hernia, Edema ORPHA:93400
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Failure of eruption of permanent teeth, Submucous cleft hard palate, Cleft palate, T... ORPHA:2250
Cholestasis, Progressive Familial Intrahepatic, 5
Nonimmune hydrops fetalis, Pleural effusion, Ascites OMIM:617049
Anemia, Congenital Dyserythropoietic, Type Iv
Hydrops fetalis, Hypertrophic cardiomyopathy OMIM:613673
Pyruvate Kinase Deficiency Of Red Cells
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis OMIM:266200
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Fibular hypoplasia, Clinodactyly of the 5th finger, Cleft palate, Pierre-Robin seque... OMIM:300373
15Q Overgrowth Syndrome
High palate, Bifid uvula, Contracture of the proximal interphalangeal joint of the 2nd finger, Ab... ORPHA:314585
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Brachydactyly, Abnormal distal phalanx morphology of finger, Bifid uvula, Short palm, Abnormality... ORPHA:2636
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dehydration, Abnormal heart morphology, Hydrops fetalis, Dilated cardiomyopathy ORPHA:79282
Senior-Loken Syndrome 9
Hypoplasia of the femoral head, Polydactyly OMIM:616629
Desmosterolosis
Narrow mouth, Bifid uvula, Intestinal malrotation, Metatarsus adductus, Submucous cleft hard pala... ORPHA:35107
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Hydrops fetalis, Polyhydramnios, Premature birth, Edema OMIM:602522
Cranioectodermal Dysplasia 3
Brachydactyly, Sandal gap, Syndactyly, Postaxial polydactyly OMIM:614099
Miller-Dieker Lissencephaly Syndrome
Single transverse palmar crease, Delayed eruption of teeth, Joint contracture of the hand, Clinod... OMIM:247200
Frontometaphyseal Dysplasia 2
Pierre-Robin sequence, High palate, Short philtrum, Bifid uvula, Dislocated radial head, Short me... OMIM:617137
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Atrial septal defect, Hydrops fetalis, Polyhydramnios, Short neck OMIM:300868
Nephronophthisis 13
Polydactyly OMIM:614377
Aprosencephaly And Cerebellar Dysgenesis
Talipes equinovarus, Bifid uvula OMIM:601374
Carpenter Syndrome 2
Brachydactyly, Patent ductus arteriosus, Aplasia of the middle phalanx of the hand, Atrial septal... OMIM:614976
Craniolenticulosutural Dysplasia
High palate, Narrow iliac wing, Bifid uvula, Long philtrum, Delayed eruption of teeth, Carious te... OMIM:607812
Ellis-Van Creveld Syndrome
Cone-shaped epiphyses of phalanges 2 to 5, Postaxial foot polydactyly, Atrial septal defect, Acet... OMIM:225500
Chromosome 18Q Deletion Syndrome