Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
tectonic family member 2
Synonyms:
Tect2,  4432405B04Rik

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 Tctn2 mutations

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

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

The table below shows human diseases predicted to be associated to Tctn2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Ventricular septal defect, Anencephaly, Non-midline cleft lip, Aplasia/Hypoplasia o... ORPHA:2476
Gombo Syndrome
Abnormal heart morphology, Radial deviation of finger, Clinodactyly, Microphthalmia, Brachydactyly OMIM:233270
Hydrolethalus Syndrome 2
Preaxial polydactyly, Postaxial polydactyly, Anencephaly, Cleft palate, Hydrocephalus OMIM:614120
Orofaciodigital Syndrome Xviii
Genu valgum, Short philtrum, Short middle phalanx of finger, Diastema, Preaxial polydactyly, Post... OMIM:617927
Nevus Comedonicus Syndrome
Spina bifida, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida occulta ORPHA:64754
Biemond Syndrome Type 2
Microphthalmia, Preaxial polydactyly, Hydrocephalus ORPHA:141333
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Fryns Microphthalmia Syndrome
Bilateral cleft lip and palate, Anophthalmia, Microphthalmia, Neural tube defect OMIM:600776
Acropectorovertebral Dysplasia
Camptodactyly of finger, Spina bifida, Tarsal synostosis, Broad thumb, Synostosis of carpal bones... ORPHA:957
Congenital Absence Of Upper Arm And Forearm With Hand Present
Upper limb phocomelia, Polydactyly, Abnormal heart morphology, Syndactyly, Abnormal hip bone morp... ORPHA:294975
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Mmep Syndrome
Ventricular septal defect, Oral cleft, Split foot, Microphthalmia, Triphalangeal thumb, Median cl... ORPHA:3434
Polydactyly, Preaxial Iv
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... OMIM:174700
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Thin upper lip vermilion, Hypoplastic ischia, Syndac... OMIM:617866
Macrosomia With Microphthalmia, Lethal
Median cleft palate, Microphthalmia OMIM:248110
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small thenar eminence, Long philtrum, Spina bifida, Small hypothenar eminence, Mitral valve prola... OMIM:211960
Acalvaria
Spina bifida, Postaxial hand polydactyly, Holoprosencephaly, Cleft palate, Hydrocephalus ORPHA:945
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux OMIM:234280
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Bilateral microphthalmos, Oral cleft, Microphthalmia, Anophthalmia OMIM:611638
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Rocker bottom foot, Microphthalmia, Cleft palate OMIM:616570
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Easily subluxated first metacarpophalangeal joints, Short distal phalanx o... OMIM:311895
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Complete duplication of ... OMIM:129540
Meckel Syndrome, Type 2
Postaxial hand polydactyly, Polydactyly, Bowing of the long bones, Anencephaly, Meningocele, Micr... OMIM:603194
Meckel Syndrome, Type 4
Atrial septal defect, Postaxial hand polydactyly, Ventricular septal defect, Bowing of the long b... OMIM:611134
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Greig Cephalopolysyndactyly Syndrome
Postaxial hand polydactyly, Broad thumb, Preaxial hand polydactyly, Toe syndactyly, Finger syndac... ORPHA:380
Feingold Syndrome 2
3-4 toe syndactyly, Ventricular septal defect, Short middle phalanx of the 2nd finger, 2-3 toe sy... OMIM:614326
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Long philtrum, Prominent calcaneus, Hypoplasia of proximal radius, Tars... ORPHA:2756
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Abnormality of the metacarpal bones, Cleft palate, Glossoptosis, Ha... ORPHA:3104
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Atrial septal defect, Ventricular septal defect, Preaxial polydactyly, Posta... OMIM:618142
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Otopalatodigital Syndrome Type 2
Oligodontia, Tarsal synostosis, Narrow mouth, Flared iliac wing, Elbow dislocation, Abnormality o... ORPHA:90652
Catel-Manzke Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Abnormality of epiphysi... ORPHA:1388
Multiple Synostoses Syndrome 3
Cutaneous syndactyly of toes, Humeroradial synostosis, Cubitus valgus, Broad thumb, Hallux varus,... OMIM:612961
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Broad toe, Preaxial foot polydactyly, 1-2... OMIM:186350
Adams-Oliver Syndrome 4
Short toe, Atrial septal defect, Umbilical hernia, Ventricular septal defect OMIM:615297
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Sandal gap, Absent radius, Spina bifida occulta, Short thumb, Triphalangea... OMIM:607323
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Short philtrum, Toe syndactyly, Hand clenching, Microphthalmia, Bullet-s... ORPHA:1617
Blepharocheilodontic Syndrome 1
Cutaneous syndactyly, Hypodontia, Neural tube defect, Clinodactyly, Anal atresia, Cleft upper lip... OMIM:119580
Feingold Syndrome Type 2
Toe syndactyly, Ventricular septal defect, Short middle phalanx of finger, Jejunal atresia, Short... ORPHA:391646
Meckel Syndrome, Type 5
Postaxial hand polydactyly, Bowing of the long bones, Anencephaly, Postaxial foot polydactyly, Mi... OMIM:611561
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Preaxial hand polydactyly, Cleft upper lip, Cleft palate OMIM:601420
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Polydactyly, Anophthalmia, Microphthalmia, Cleft upper lip, Cleft pal... OMIM:613885
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Aganglionic megacolon, Polysyndactyly of hallux, Ventricular septal de... OMIM:235750
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Atrial septal defect, Narrow mouth, Ventricular septal defect,... ORPHA:3469
Ivic Syndrome
Limited wrist movement, Carpal bone hypoplasia, Intestinal malrotation, Rectovaginal fistula, Sho... OMIM:147750
Endocrine-Cerebroosteodysplasia
Polydactyly, Holoprosencephaly, Natal tooth, Preaxial polydactyly, Postaxial polydactyly, Sandal ... OMIM:612651
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect ORPHA:1918
Biemond Syndrome Ii
Preaxial hand polydactyly, Hydrocephalus OMIM:210350
Hartsfield Syndrome
Split hand, Non-midline cleft lip, Aplasia/Hypoplasia of the radius, Microphthalmia, Lobar holopr... ORPHA:2117
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Polydactyly, Smooth philtrum, Syndactyly, Microphthalmia, Hydrocephalus OMIM:602501
Anophthalmia Plus Syndrome
Spina bifida, Anophthalmia, Bilateral cleft lip and palate, Non-midline cleft lip, Cleft palate, ... ORPHA:1104
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Proximal placement of hallux, Preaxial foot polydactyly, Absent middle phalanx of 5th finger, Abs... OMIM:218530
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Ulnar Hemimelia
Radial club hand, Short forearm, Spinal dysraphism, Duplication of phalanx of 3rd finger, Aplasia... ORPHA:93320
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Absent tibia, Acetabular spurs, Preaxial polydactyly, Hamartoma of tongue, Intestinal malrotation... OMIM:613091
Schisis Association
Spina bifida, Anencephaly, Unilateral cleft lip, Anal atresia, Cleft palate, Tracheoesophageal fi... ORPHA:63862
Microphthalmia With Limb Anomalies
Talipes equinovarus, Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpa... OMIM:206920
X-Linked Intellectual Disability, Siderius Type
Oral cleft, Preaxial hand polydactyly, Large hands, Cleft upper lip ORPHA:85287
Isolated Klippel-Feil Syndrome
Spina bifida, Ventricular septal defect, Ectopic anus, Anal atresia, Cleft palate, Abnormal shoul... ORPHA:2345
Acromelic Frontonasal Dysostosis
Polydactyly, Preaxial polydactyly, Syndactyly, U-Shaped upper lip vermilion, Cleft upper lip, Cle... OMIM:603671
Greig Cephalopolysyndactyly Syndrome
Postaxial hand polydactyly, Broad thumb, 1-3 toe syndactyly, Preaxial hand polydactyly, Abnormal ... OMIM:175700
Oculofaciocardiodental Syndrome
Oligodontia, Intestinal malrotation, Flexion contracture of the 2nd toe, Solitary median maxillar... ORPHA:2712
Mohr Syndrome
Metaphyseal irregularity, Tongue nodules, Short palm, Lobulated tongue, High palate, Hydrocephalu... OMIM:252100
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Short distal phalanx of finger, Hydranencephaly, C... OMIM:601355
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
14Q11.2 Microdeletion Syndrome
Long philtrum, Toe syndactyly, Narrow mouth, Ventricular septal defect, High palate, Everted lowe... ORPHA:261120
Orofaciodigital Syndrome Vi
Preaxial hand polydactyly, Toe syndactyly, Central Y-shaped metacarpal, Tongue nodules, Preaxial ... OMIM:277170
Eng-Strom Syndrome
Camptodactyly of finger, Abnormal cardiac septum morphology, Brachydactyly, Ventricular septal de... ORPHA:1937
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Broad thumb, Ventricular septal defect, 2-3 toe syndactyly, Gastroesophagea... OMIM:600987
Humero-Radial Synostosis
Tarsal synostosis, Elbow dislocation, Elbow ankylosis, Meningocele, Aplasia/Hypoplasia of the thu... ORPHA:3265
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Everted lower lip vermilion, P... OMIM:249670
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Postaxial hand polydactyly, Narrow mouth, Ventricular septal defect, Abnormal cardiac septum morp... ORPHA:83473
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Finger syndactyly, Holoprosencephaly, Spinal d... ORPHA:1908
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Microphthalmia ORPHA:2432
Mend Syndrome
Overlapping fingers, Overlapping toe, Polydactyly, 2-3 toe syndactyly, Aortic valve stenosis, Hig... OMIM:300960
Cousin Syndrome
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Alveolar ridge overgrowth, Hydrocep... OMIM:260660
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Meier-Gorlin Syndrome 7
Atrial septal defect, Narrow mouth, Ventricular septal defect, Anal stenosis, Complete atrioventr... OMIM:617063
Aase-Smith Syndrome I
Open mouth, Ventricular septal defect, Slender finger, Cleft palate, Talipes equinovarus, Hydroce... OMIM:147800
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Foot oligodactyly, Clinodactyly, Syndactyly, Hand oligodactyly, ... OMIM:183600
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Chromosome 1Q41-Q42 Deletion Syndrome
Holoprosencephaly, Microphthalmia, Cleft upper lip, Cleft palate, Talipes equinovarus OMIM:612530
Sonoda Syndrome
High axial triradius, Narrow mouth, Ventricular septal defect OMIM:270460
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Microphthalmia, Spina bifida ... OMIM:169550
Arthrogryposis, Distal, Type 1C
Pursed lips, Rocker bottom foot, Thin vermilion border, Camptodactyly of finger, Talipes equinova... OMIM:619110
Microphthalmia, Syndromic 8
Oral cleft, Split foot, Microphthalmia, Cleft upper lip, Cleft palate, Widely-spaced maxillary ce... OMIM:601349
Frontonasal Dysplasia 1
Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Camptodactyly, Radial deviation o... OMIM:136760
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Hydrolethalus
Postaxial hand polydactyly, Arrhinencephaly, Micromelia, Anencephaly, Gingival cleft, Unilateral ... ORPHA:2189
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Sandal gap, Dilated cardiomyopathy, High, narrow palate, Clinodactyly ... ORPHA:2515
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Anomalous pulmonary venous return, Atrial septal defect, Preaxial hand polydactyly,... ORPHA:1120
Czeizel-Losonci Syndrome
2-3 finger syndactyly, Spina bifida, 1-2 finger syndactyly, 3-4 finger syndactyly, Radial deviati... ORPHA:2437
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Preaxial polydactyly, Postaxial polydactyly, Anencephaly, Cleft palate, Apl... OMIM:616546
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
17Q12 Microduplication Syndrome
Atrial septal defect, Toe syndactyly, Finger syndactyly, Microphthalmia, Cleft palate, Tracheoeso... ORPHA:261272
3P25.3 Microdeletion Syndrome
2-3 finger syndactyly, Short philtrum, Atrial septal defect, Broad thumb, Downturned corners of m... ORPHA:435638
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Short philtrum, Downturned corners of mouth, Ventricular septal defect, Aplasia/Hypoplasia of the... ORPHA:94066
Pelvis-Shoulder Dysplasia
Dislocated radial head, Spina bifida, Camptodactyly of finger, Mesomelic/rhizomelic limb shorteni... ORPHA:2839
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Split foot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Rhizomelic Syndrome, Urbach Type
Abnormality of the tongue, Preaxial hand polydactyly, Abnormality of epiphysis morphology, Rhizom... ORPHA:3098
Aplasia Cutis Congenita
Spinal dysraphism, Toe syndactyly, Finger syndactyly ORPHA:1114
Diprosopus
Abnormal cardiac septum morphology, Non-midline cleft lip, Anencephaly, Cleft palate ORPHA:1681
Nanophthalmos 4
Microphthalmia OMIM:615972
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Abnormal tricuspid valve morphology, Intestinal malrotation, Meningocele... ORPHA:1759
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Catel-Manzke Syndrome
Talipes equinovarus, Ventricular septal defect, Camptodactyly, Ulnar deviation of the 2nd finger,... OMIM:616145
Stromme Syndrome
Preaxial polydactyly, Intestinal malrotation, Wide mouth, Jejunal atresia, Duodenal atresia, Opti... OMIM:243605
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Oral cleft, Hydrocephalus ORPHA:324416
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Downturned corners of mouth, Limb dup... ORPHA:2378
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Thin upper lip vermilion, Long philtrum, Interphalangeal joint contracture of finger, Preaxial ha... OMIM:606242
Fibular Hemimelia
Hip subluxation, Bowing of the legs, Anophthalmia, Abnormality of fibula morphology, Arthralgia o... ORPHA:93323
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Overlapping toe, Ventricular septal defect, Camptodactyly, Pulmonic stenosi... OMIM:614262
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Camptodactyly of finger, Spina bifida, Cubitus valgus, Toe syndactyly, Narrow mouth, D... ORPHA:1327
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short philtrum, Metaphyseal chondrodysplasia, Rhizomelia, Metaphyseal cupping of metacarpals, Hyp... ORPHA:163966
Holzgreve Syndrome
Hand polydactyly, Hypoplastic left heart, Cleft upper lip, Cleft palate OMIM:236110
Filippi Syndrome
Thin vermilion border, Short philtrum, Abnormality of dental morphology, Ventricular septal defec... OMIM:272440
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Streaky metaphyseal sclerosis, Genu valgum, Dislocated radial head, Broad distal phalanx of finge... OMIM:603546
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Lambotte Syndrome
Semilobar holoprosencephaly, Preaxial foot polydactyly, Narrow mouth, Ventricular septal defect OMIM:245552
Cranioacrofacial Syndrome
Pulmonic stenosis, Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect OMIM:122850
Pierpont Syndrome
Deep palmar crease, Thin vermilion border, Everted lower lip vermilion, Long upper lip, Short fin... ORPHA:487825
Orofaciodigital Syndrome Type 6
Hand polydactyly, Midline notch of upper alveolar ridge, Tongue nodules, Abnormal heart morpholog... ORPHA:2754
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Ventricular septal defect, Holoprosencephaly, Foot oligodactyly, Bilateral cleft lip... OMIM:601357
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short philtrum, Downturned corners of mouth, Ventricular septal defect, Abnormality of epiphysis ... ORPHA:93267
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Atrial septal defect, Ventricular septal defect, Everted lower lip vermilion, Ten... OMIM:616898
Pierpont Syndrome
Deep palmar crease, Thin vermilion border, Short toe, Broad palm, Everted lower lip vermilion, Lo... OMIM:602342
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Cleft palate, Microphthalmia, Anophthalmia OMIM:221950
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Short phalanx of finger, Ventricular septal defect, Camptodactyly, Hip disl... OMIM:613458
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus OMIM:614830
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Squared iliac bones, Hypoplastic pelvis, Rhizomelia, Natal tooth, Preaxial polydactyly, Postaxial... OMIM:616300
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Sirenomelia
Spina bifida, Sirenomelia, Aplasia/Hypoplasia of the radius, Anal atresia, Tracheoesophageal fistula ORPHA:3169
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia, Cleft upper lip, Cleft palate OMIM:120433
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short hallux, Overlapping fingers, Postaxial polydactyly, Adducted thumb, Short distal phalanx of... OMIM:618167
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Hydrocephalus, Cleft palate OMIM:258320
Carpenter Syndrome 1
Flared iliac wing, Camptodactyly, Metatarsus adductus, Spina bifida occulta, High palate, Shallow... OMIM:201000
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Narrow mouth, Microphthalmia ORPHA:2528
Bardet-Biedl Syndrome 7
Polydactyly OMIM:615984
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hypoplastic iliac wing, Micr... OMIM:300863
Carpenter Syndrome
Genu valgum, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger syndactyly, Polydact... ORPHA:65759
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Natal tooth, Hamartoma of tongue, Postaxial polydactyly, ... OMIM:617925
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Microphthalmia With Limb Anomalies
Thin vermilion border, Tarsal synostosis, Broad thumb, Elbow dislocation, Bilateral single transv... ORPHA:1106
Orofaciodigital Syndrome Viii
Polydactyly, Syndactyly, Cleft palate, High palate, Short tibia, Median cleft lip OMIM:300484
Chromosome 13Q33-Q34 Deletion Syndrome
Open mouth, Camptodactyly, Anencephaly, Short thumb, High palate, Small thenar eminence, Anal atr... OMIM:619148
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Broad thumb, Esophageal atresia, Smooth philtrum, Microphthalmia, Cleft sof... OMIM:614526
Pelger-Huet Anomaly
Short 4th metacarpal, Short 3rd metacarpal, Upper limb undergrowth, Ventricular septal defect, Po... OMIM:169400
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Preaxial hand polydactyly, Short metatarsal, Broad thumb, Abnormal palate morph... ORPHA:1278
Moebius Syndrome
Talipes equinovarus, Short phalanx of finger, Split hand, Camptodactyly, Dysphagia, Abnormality o... OMIM:157900
Lambert Syndrome
Wide mouth, Branchial anomaly, Ventricular septal defect ORPHA:1296
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Split hand, Cutaneous finger syndactyly, Split foot, Spina bifida occulta, Myelomeningocele, Hydr... OMIM:183802
Faciothoracogenital Syndrome
Thin upper lip vermilion, Long philtrum, Smooth philtrum, Microphthalmia OMIM:227320
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Anal atresia, Bifid sternum, ... ORPHA:63260
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Long philtrum, Broad distal phalanx of finger, Morphological abnormality of the gastrointestinal ... ORPHA:404440
Oculoauriculovertebral Spectrum With Radial Defects
Triphalangeal thumb, Short mandibular rami, Preaxial hand polydactyly, Wide mouth, Non-midline cl... ORPHA:2549
Bardet-Biedl Syndrome 22
Polydactyly OMIM:617119
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot, Cleft pa... DECIPHER:46
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Monosomy 18P
Carious teeth, Short philtrum, Tooth malposition, Downturned corners of mouth, Holoprosencephaly,... ORPHA:1598
Pseudotrisomy 13 Syndrome
Median cleft lip and palate, Tricuspid atresia, Atrial septal defect, Postaxial hand polydactyly,... OMIM:264480
Temtamy Syndrome
Thick lower lip vermilion, Abnormal palate morphology, Microphthalmia, Genu varum, Short toe, Cli... ORPHA:1777
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Preaxial polydactyly, Postaxial polydactyly, Short long bone, Syndacty... OMIM:615503
Trisomy 4P
Radial club hand, Carious teeth, Preaxial hand polydactyly, Camptodactyly of finger, Abnormal pal... ORPHA:1738
14Q24.1Q24.3 Microdeletion Syndrome
Long philtrum, Dislocated radial head, Atrial septal defect, Truncus arteriosus, Ventricular sept... ORPHA:401935
Jackson-Weiss Syndrome
Short metatarsal, Toe syndactyly, Broad metatarsal, Abnormal palate morphology, Broad hallux phal... ORPHA:1540
Orofaciodigital Syndrome Xi
Gastroesophageal reflux, Postaxial polydactyly, Cleft palate OMIM:612913
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Aplasia of the 1st metacarpal, Atrial septal defect, Ventricular septal defect, Gastroesophageal ... OMIM:600123
Coffin-Siris Syndrome 10
Clinodactyly, Wide mouth, Persistence of primary teeth, Ventricular septal defect OMIM:618506
Bardet-Biedl Syndrome 6
Polydactyly, Syndactyly OMIM:605231
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Long philtrum, Dental crowding, Pierre-Robin sequence, Everted lower lip vermilion, Short 5th met... OMIM:617877
Acrocallosal Syndrome
Thin vermilion border, Hypoplasia of teeth, Open mouth, Rectovaginal fistula, Triangular mouth, H... OMIM:200990
Cerebrooculofacioskeletal Syndrome 1
Long philtrum, Thin vermilion border, Rocker bottom foot, Camptodactyly, Second metatarsal poster... OMIM:214150
Pallister-Hall-Like Syndrome
Postaxial hand polydactyly, Abnormal heart morphology, Microglossia, Cleft palate, Hip dislocatio... OMIM:241800
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Syndactyly, Brachydactyly, Microphthalmia OMIM:610023
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Postaxial hand polydactyly, Preaxial foot polydactyly ORPHA:2091
Bresek Syndrome
Postaxial hand polydactyly, Aganglionic megacolon, Optic nerve hypoplasia, Microphthalmia, Cleft ... ORPHA:85284
Diabetic Embryopathy
Ventricular septal defect, Spinal dysraphism, Cleft palate, Tetralogy of Fallot, Aplasia/Hypoplas... ORPHA:1926
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Glossoptosis, Ventricular septal defect OMIM:614876
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Meckel Syndrome, Type 3
Postaxial hand polydactyly, Polydactyly, Cleft palate, Postaxial foot polydactyly, Hydrocephalus OMIM:607361
Brachydactyly, Type B1
Broad thumb, Ventricular septal defect, Short middle phalanx of finger, Aplasia/Hypoplasia of the... OMIM:113000
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Postaxial hand polydactyly, Preaxial foot polydactyly, Bilateral triphalangeal thumbs OMIM:138790
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Tongue nodules, Short finger, Hamartoma of tongue, Postaxial po... OMIM:258860
X-Linked Dominant Chondrodysplasia Punctata
Hip dysplasia, Abnormality of epiphysis morphology, Rhizomelia, Hemiatrophy, Abnormality of the d... ORPHA:35173
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Mesomelic/rhizomelic limb shortening, Abnormal mitral valve morphology, Abn... ORPHA:1354
Triploidy
Macroglossia, Narrow mouth, Finger syndactyly, Holoprosencephaly, Intestinal malrotation, Wide mo... ORPHA:3376
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Elbow dislocation, Intestinal malrotation, Abnormality of the metacarpal bones, Rect... ORPHA:2538
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Broad thumb, Abnormality of the philtrum, Ventricular septal defect, Large hands, Non-midline cle... ORPHA:1770
Diaphanospondylodysostosis
Myelomeningocele, Narrow pelvis bone, Cleft palate ORPHA:66637
Orofaciodigital Syndrome Xvii
Clubbing of fingers, Central Y-shaped metacarpal, Polydactyly, Short middle phalanx of the 2nd fi... OMIM:617926
Fountain Syndrome
Spina bifida, Everted lower lip vermilion, Abnormal palate morphology, Wide mouth, Large hands, A... ORPHA:3219
8P23.1 Duplication Syndrome
Long philtrum, Toe syndactyly, Ventricular septal defect, Thick vermilion border, Pulmonic stenos... ORPHA:251076
Vater/Vacterl Association
Spina bifida, Hypoplasia of the radius, Radioulnar synostosis, Ventricular septal defect, Preaxia... OMIM:192350
3C Syndrome
Intestinal malrotation, Oral cleft, High, narrow palate, Hydrocephalus, Abnormal tricuspid valve ... ORPHA:7
Microphthalmia, Syndromic 12
Anophthalmia, Hypoplastic left atrium, Microphthalmia, Ventricular septal defect OMIM:615524
Spinal Muscular Atrophy, Type I
Tongue fasciculations, Atrial septal defect, Ventricular septal defect OMIM:253300
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Ventricular septal defect, Umbilical hernia, Protruding tongue, Cleft palate, Bifid... OMIM:612938
Char Syndrome
Short philtrum, Hand polydactyly, Toe syndactyly, Ventricular septal defect, Everted lower lip ve... ORPHA:46627
3Q29 Microduplication Syndrome
Aniridia, Toe syndactyly, Ventricular septal defect, Camptodactyly of toe, Deep philtrum, Abnorma... ORPHA:251038
Au-Kline Syndrome
Hip dysplasia, Deep palmar crease, Oligodontia, Downturned corners of mouth, Open mouth, Overlapp... OMIM:616580
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Curry-Jones Syndrome
Cutaneous syndactyly of toes, Preaxial hand polydactyly, Broad thumb, Anal stenosis, Intestinal m... OMIM:601707
Kapur-Toriello Syndrome
Overlapping fingers, Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, In... OMIM:244300
Sandestig-Stefanova Syndrome
Rocker bottom foot, Camptodactyly, Bilateral single transverse palmar creases, Oral cleft, Perime... OMIM:618804
Trisomy 13
Long philtrum, Atrial septal defect, Postaxial hand polydactyly, Ventricular septal defect, Aplas... ORPHA:3378
Orofaciodigital Syndrome Xiv
Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Natal tooth, Hamartoma of ton... OMIM:615948
Craniotelencephalic Dysplasia
Microphthalmia, Arrhinencephaly, Septo-optic dysplasia, Hydrocephalus ORPHA:1528
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Trisomy 1Q
Camptodactyly of finger, Preaxial hand polydactyly, Toe syndactyly, Narrow mouth, Ventricular sep... ORPHA:261344
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Holoprosencephaly, Esophageal atresia, Microphthalmia, Anophthalmia, T... ORPHA:77298
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Mosaic Trisomy 9
Rocker bottom foot, Spina bifida, Atrial septal defect, Camptodactyly of finger, Talipes equinova... ORPHA:99776
Mosaic Trisomy 1
Oral cleft, Long toe, Complete duplication of thumb phalanx, Elbow flexion contracture, 2-3 finge... ORPHA:1692
Fanconi Anemia, Complementation Group L
Esophageal atresia, Anal atresia, Microphthalmia, Cleft palate, Absent thumb, Tracheoesophageal f... OMIM:614083
Enlarged Parietal Foramina
Broad thumb, Cleft lip, Short clavicles, Cleft palate, Myelomeningocele ORPHA:60015
Orofaciodigital Syndrome Type 2
Y-shaped metacarpals, Hypoplasia of teeth, Tongue nodules, Broad first metatarsal, Natal tooth, H... ORPHA:2751
Caudal Duplication
Spina bifida, Myelomeningocele, Intestinal duplication ORPHA:1756
Cerebrocostomandibular Syndrome
Spina bifida, Ventricular septal defect, Meningocele, Clinodactyly of the 5th finger, Hydranencep... ORPHA:1393
Phaver Syndrome
Triphalangeal thumb, Camptodactyly of finger, Broad thumb, Radioulnar synostosis, Ventricular sep... ORPHA:2876
Focal Dermal Hypoplasia
Open bite, Abnormal dental enamel morphology, Split hand, Short clavicles, Abnormality of dental ... ORPHA:2092
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Rhombencephalosynapsis
Narrow mouth, Short phalanx of finger, Finger syndactyly, Polydactyly, Aganglionic megacolon, Eso... ORPHA:59315
8Q12 Microduplication Syndrome
Long philtrum, Atrial septal defect, Narrow mouth, Ventricular septal defect, Everted lower lip v... ORPHA:228399
Ritscher-Schinzel Syndrome 2
Short philtrum, Atrial septal defect, Overlapping toe, Ventricular septal defect, Camptodactyly, ... OMIM:300963
Joubert Syndrome 14
Short philtrum, Open mouth, Postaxial polydactyly, Tented upper lip vermilion, Microphthalmia, Hy... OMIM:614424
Diamond-Blackfan Anemia 6
Triphalangeal thumb, Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Cl... OMIM:612561
Bardet-Biedl Syndrome 4
Polydactyly, Syndactyly, Brachydactyly, Abnormality of the dentition OMIM:615982
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Cardiac fibroma, Spina bifida, Cardiac rhabdomyoma, Short 4... OMIM:109400
Orofaciodigital Syndrome V
Postaxial hand polydactyly, Aganglionic megacolon, Postaxial foot polydactyly, Lobulated tongue, ... OMIM:174300
Trisomy 18
Camptodactyly of finger, Spina bifida, Atrial septal defect, Narrow palate, Narrow mouth, Postaxi... ORPHA:3380
Pentalogy Of Cantrell
Atrial septal defect, Abnormality of tibia morphology, Ventricular septal defect, Split hand, Abn... ORPHA:1335
Femoral-Facial Syndrome
Hip dysplasia, Long philtrum, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, Oral... ORPHA:1988
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Small thenar eminence, 2-3 toe syndactyly, Joint contracture of the 5th finger, Umbilical hernia,... OMIM:618914
Burn-Mckeown Syndrome
Thin vermilion border, Atrial septal defect, Short philtrum, Narrow mouth, Ventricular septal def... OMIM:608572
Mullegama-Klein-Martinez Syndrome
Long philtrum, Short philtrum, Polydactyly, Smooth philtrum, Thin upper lip vermilion, Hypoplasti... OMIM:301022
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Mesomelia, Solitary median maxillary central incisor, Hand oligodactyly... OMIM:602418
Meckel Syndrome, Type 10
Postaxial polydactyly, Anencephaly, Cleft palate OMIM:614175
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Long philtrum, Preaxial hand polydactyly, Exencephaly, Broad thumb, Finger syndactyly, Broad hall... ORPHA:2211
Steinfeld Syndrome
Median cleft lip and palate, Hypoplasia of the radius, Abnormal heart morphology, Holoprosencepha... OMIM:184705
Solitary Median Maxillary Central Incisor
Holoprosencephaly, Torus palatinus, Solitary median maxillary central incisor, Microphthalmia, Cl... OMIM:147250
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Agenesis of permanent teeth, Polydactyly, Hypoplastic scapulae, Bowing of the long bones, Postaxi... OMIM:614091
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Long philtrum, Hemiatrophy of upper limb, Downturned corne... ORPHA:163649
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Short philtrum, Atrial septal defect, Ventricular septal defect, Thick lower lip vermilion, Widel... OMIM:608227
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Macroglossia, Open mouth, Ventricular septal defect, Abnormal heart morphology, Downturned corner... ORPHA:369891
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Genu valgum, Postaxial hand polydactyly, Ventricular septal defect, Oral cleft, Short long bone, ... OMIM:615630
Nephrotic Syndrome, Type 11
Ventricular septal defect, Smooth philtrum, Partial duplication of thumb phalanx, Clinodactyly, C... OMIM:616730
Cardioacrofacial Dysplasia 1
Genu valgum, Short philtrum, Complete atrioventricular canal defect, Diastema, Postaxial polydact... OMIM:619142
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hand polydactyly, Hydrocephalus, Short humerus, Anal atresia, Absent radius, Isomerism, Atriovent... OMIM:314390
Orofaciodigital Syndrome I
Enamel hypoplasia, Carious teeth, Agenesis of permanent teeth, Abnormal heart morphology, Tongue ... OMIM:311200
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Bartsocas-Papas Syndrome 2
Bilateral cleft lip and palate, Small hand, Cutaneous syndactyly between fingers 2 and 5, Microph... OMIM:619339
Suleiman-El-Hattab Syndrome
Long philtrum, Atrial septal defect, Drooling, Downturned corners of mouth, Ventricular septal de... OMIM:618950
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Postaxial polydactyly, Abnormally large globe, H... OMIM:603387
Trisomy 8Q
Camptodactyly of finger, Deep palmar crease, Everted lower lip vermilion, Non-midline cleft lip, ... ORPHA:1752
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Bilateral microphthalmos, Cervical spina bifida OMIM:600122
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Bardet-Biedl Syndrome 17
Situs inversus totalis, Mesoaxial polydactyly, Polydactyly, Dextrocardia, Brachydactyly OMIM:615994
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Bilateral cleft lip and palate, Non-midline cleft lip, Tooth agenesis, Meningocele, Hip dislocation ORPHA:2003
Apert Syndrome
Delayed eruption of teeth, Humeroradial synostosis, Postaxial hand polydactyly, Narrow palate, Pr... OMIM:101200
Acrofacial Dysostosis 1, Nager Type
Absent radius, Triphalangeal thumb, Hallux valgus, Hydrocephalus, Limited elbow extension, Hypopl... OMIM:154400
Teebi-Shaltout Syndrome
Rocker bottom foot, Oligodontia, Narrow mouth, Ventricular septal defect, Camptodactyly, Wide mou... OMIM:272950
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Cleft palate, High palate, Microphthalmia, Tooth agenesis ORPHA:1135
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Carpenter Syndrome 2
Talipes equinovarus, Atrial septal defect, Situs inversus totalis, Narrow palate, Broad thumb, Ca... OMIM:614976
Joubert Syndrome 18
Polydactyly, Camptodactyly, Ventricular septal defect OMIM:614815
Congenital Varicella Syndrome
Microphthalmia, Micromelia ORPHA:291
Adams-Oliver Syndrome
Absent hand, Gastrointestinal hemorrhage, Finger syndactyly, Split hand, Esophageal varix, Abnorm... ORPHA:974
Marden-Walker Syndrome
Long philtrum, Talipes equinovarus, Narrow mouth, Radioulnar synostosis, Zollinger-Ellison syndro... OMIM:248700
Stevenson-Carey Syndrome
Hip dysplasia, Atrial septal defect, Narrow mouth, Downturned corners of mouth, Pierre-Robin sequ... OMIM:611961
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Abnormality of the palmar creases, Downturned corners of mouth, Ventricular... OMIM:618652
Mcdonough Syndrome
Short philtrum, Atrial septal defect, Ventricular septal defect, Radial deviation of finger, Furr... OMIM:248950
Galloway-Mowat Syndrome 7
Cubitus valgus, Ventricular septal defect, Smooth philtrum, Partial duplication of thumb phalanx,... OMIM:618348
Genitopalatocardiac Syndrome
Ventricular septal defect, Double outlet right ventricle, Cleft upper lip, Cleft palate, Transpos... OMIM:231060
Craniotelencephalic Dysplasia
Arrhinencephaly, Optic nerve hypoplasia, Microphthalmia OMIM:218670
Oculocerebrocutaneous Syndrome
Cleft palate, Congenital hip dislocation, Microphthalmia, Anophthalmia OMIM:164180
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Oligodontia, Narrow palate, Narrow mouth, Pericardial effusion, Camptodactyly, Bilateral single t... OMIM:235510
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Short metatarsal, Short phalanx of finger, Postaxial polydactyly, Limb undergrowth... OMIM:617102
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Gracile Bone Dysplasia
Aniridia, Ankyloglossia, Slender long bone, Flared metaphysis, Microphthalmia, Brachydactyly, Hyd... OMIM:602361
Holt-Oram Syndrome
Small thenar eminence, Limited elbow extension, Hypoplasia of the radius, Ventricular septal defe... OMIM:142900
Desbuquois Syndrome
Abnormal femoral neck/head morphology, Camptodactyly of finger, Radioulnar synostosis, Ventricula... ORPHA:1425
Curry-Jones Syndrome
Preaxial hand polydactyly, Toe syndactyly, Broad thumb, Finger syndactyly, Intestinal malrotation... ORPHA:1553
Microphthalmia, Syndromic 11
Microphthalmia, Cleft upper lip, Cleft palate OMIM:614402
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Dental crowding, Polydactyly, Upper limb asymmetry, High palate, Clinodactyly of the 5th finger ORPHA:231140
16P13.11 Microduplication Syndrome
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Tetralogy of Fallot, Arachnoda... ORPHA:261243
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Tarsal synostosis, Short metatarsal, Radioulnar synostosis, Hitchhiker thumb, Deep ph... OMIM:605282
Cofs Syndrome
Camptodactyly of finger, Everted lower lip vermilion, Microphthalmia ORPHA:1466
Hadziselimovic Syndrome
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Anal atresia, U-Shaped ... OMIM:612946
Nail-Patella Syndrome
Limited elbow extension, Spina bifida, Triceps aplasia, Biceps aplasia, Hypoplastic radial head, ... OMIM:161200
Pallister-Hall Syndrome
Y-shaped metacarpals, Natal tooth, Mesoaxial foot polydactyly, Distal shortening of limbs, Postax... OMIM:146510
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Atrial septal defect, Broad thumb, Downturned corners of mouth, Ventricular septal defect, Diaste... ORPHA:329224
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Broad thumb, Radioulnar synostosis, Vent... ORPHA:392
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Hand oligodactyly, Coalescence of tarsal bones, Cleft palate, Fibular ... OMIM:165590
Nanophthalmos
Microphthalmia ORPHA:35612
Trigonocephaly With Short Stature And Developmental Delay
Broad secondary alveolar ridge, High palate, Clinodactyly of the 5th finger, Ventricular septal d... OMIM:314320
Ring Chromosome 10 Syndrome
Long philtrum, Thin vermilion border, Aganglionic megacolon, Sandal gap, Microphthalmia, Tapered ... ORPHA:1438
Roifman Syndrome
Long philtrum, Noncompaction cardiomyopathy, Downturned corners of mouth, Ventricular septal defe... OMIM:616651
Neu-Laxova Syndrome 1
Short umbilical cord, Camptodactyly, Patent foramen ovale, Rocker bottom foot, Limb undergrowth, ... OMIM:256520
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Talipes equinovarus, Atrial septal defect, Ventricular septal defect, Ho... ORPHA:261236
Limb Body Wall Complex
Short umbilical cord, Anencephaly, Spina bifida occulta, Aplasia/hypoplasia involving bones of th... ORPHA:2369
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Duodenal stenosis, Microphthalmia, Symphalangism affecting the phalanges... ORPHA:2547
Fanconi Anemia, Complementation Group S
Narrow palate, Thick upper lip vermilion, Proximal placement of thumb, Clinodactyly, Microphthalm... OMIM:617883
Congenital Toxoplasmosis
Microphthalmia, Cardiomegaly, Hydrocephalus ORPHA:858
Acromelic Frontonasal Dysplasia
Preaxial foot polydactyly, Wide mouth, Meningocele, Median cleft palate, Aplasia/Hypoplasia of th... ORPHA:1827
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Spinal dysraphism, Aortic valve stenosis, Hypoplastic left heart, Mitral st... OMIM:617660
Cohen Syndrome
Open mouth, Aplasia/Hypoplasia of the tongue, Sandal gap, Slender toe, Mitral valve prolapse, Hig... ORPHA:193
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping fingers, Atrial septal defect, Cutaneous syndactyly, Overlapping toe, Ventricular sep... OMIM:618316
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Camptodactyly, Abno... OMIM:179613
Cat-Eye Syndrome
Hip dysplasia, Anal atresia, Microphthalmia ORPHA:195
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Joubert Syndrome 22
2-3 toe syndactyly, Postaxial hand polydactyly, Microphthalmia, Postaxial foot polydactyly OMIM:615665
Insulin-Like Growth Factor I, Resistance To
Long philtrum, Atrial septal defect, Narrow mouth, Ventricular septal defect, Rieger anomaly, Smo... OMIM:270450
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Shoulder muscle hypopla... OMIM:274000
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Tooth agenesis, Abnormal hip bone morphology, Cleft palate, Tetralogy ... ORPHA:1166
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Narrow mouth, Forearm undergrowth, Absent radius, Micropht... OMIM:251230
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Vacterl With Hydrocephalus
Spina bifida, Hypoplasia of the radius, Arrhinencephaly, Esophageal atresia, Aqueductal stenosis,... ORPHA:3412
Multiple Epiphyseal Dysplasia Type 4
Short metatarsal, Ulnar deviation of the hand, Acetabular dysplasia, Short thumb, High palate, Sh... ORPHA:93307
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Hip dislocation, Bilateral microphthalmos OMIM:608763
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Overlapping toe, Th... OMIM:618974
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Broad secondary alveolar ridge, High palate, Fifth finger distal phalanx clinodactyly, Ventricula... ORPHA:3369
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia of the 1st metacarpal, Hypoplasia of the ulna, Clinodactyly of the 5th finger, Absent rad... ORPHA:1352
Holoprosencephaly-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly, Narrow mouth, Holoprosencephaly, Intestinal malrotation, Umbilical he... ORPHA:2166
Acrocardiofacial Syndrome
Camptodactyly of finger, Atrial septal defect, Truncus arteriosus, Toe syndactyly, Ventricular se... ORPHA:2008
Warburg Micro Syndrome 1
Thin vermilion border, Microphthalmia, Overlapping toe, Narrow mouth OMIM:600118
Pfeiffer Syndrome Type 2
Short hallux, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus, Broad hallux phalanx,... ORPHA:93259
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Syndactyly, Cleft palate, Small placenta, Clinodactyly of the 5th finger, Short 5th ... ORPHA:397590
1Q21.1 Microdeletion Syndrome
Long philtrum, Ankyloglossia, Talipes equinovarus, Broad thumb, Hand polydactyly, Toe syndactyly,... ORPHA:250989
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal ... OMIM:615779
Iniencephaly
Rocker bottom foot, Spina bifida, Narrow mouth, Holoprosencephaly, Rhizomelia, Spinal dysraphism,... ORPHA:63259
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Thin vermilion border, Short metatarsal, Short phalanx of finger, Broad thumb, Flared iliac wing,... OMIM:609945
3Mc Syndrome 3
Radioulnar synostosis, Preaxial polydactyly, Clinodactyly, Cleft upper lip, Cleft palate OMIM:248340
Mckusick-Kaufman Syndrome
Atrial septal defect, Tarsal synostosis, Postaxial hand polydactyly, Ventricular septal defect, F... ORPHA:2473
Subaortic Stenosis--Short Stature Syndrome
Short toe, Narrow mouth, Short phalanx of finger, Membranous subvalvular aortic stenosis, Broad t... OMIM:271960
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Ventricular septal defect, Everted lower lip vermilion, Gastroesophageal... OMIM:616920
Chromosome 6Pter-P24 Deletion Syndrome
Hip dysplasia, Rocker bottom foot, Atrial septal defect, Narrow mouth, Abnormality of dental morp... OMIM:612582
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Left ventricular hypertrophy, Hydrocephalus OMIM:613153
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Talocalcaneal synostosis, Sandal gap, Wide capital femoral epiphy... OMIM:147891
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Bilateral microphthalmos, Short foot, Optic nerve hypoplasi... OMIM:607597
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Short distal phalanx of finger, Clinodactyly, Ri... OMIM:614261
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Ventricular septal defect, Bilateral single transverse palmar creases, Short ... ORPHA:2516
Warsaw Breakage Syndrome
Ventricular septal defect, 2-3 toe syndactyly, Wide mouth, Clinodactyly, High palate, Tetralogy o... OMIM:613398
2Q31.1 Microdeletion Syndrome
Thin vermilion border, Abnormality of tibia morphology, Downturned corners of mouth, Broad hallux... ORPHA:251014
Chromosome 3Pter-P25 Deletion Syndrome
Long philtrum, Thin vermilion border, Downturned corners of mouth, Postaxial polydactyly, Macular... OMIM:613792
Basel-Vanagaite-Smirin-Yosef Syndrome
Overlapping fingers, Short philtrum, Atrial septal defect, Overlapping toe, Ventricular septal de... ORPHA:464738
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Limb-Mammary Syndrome
Split hand, Camptodactyly, Hypodontia, Syndactyly, Split foot, Joint contracture of the hand, Cle... OMIM:603543
Distal 22Q11.2 Microdeletion Syndrome
Narrow mouth, Sandal gap, Short distal phalanx of finger, High, narrow palate, Truncus arteriosus... ORPHA:261330
Li-Campeau Syndrome
Long philtrum, Atrial septal defect, Ventricular septal defect, Patellar hypoplasia, Patent foram... OMIM:619189
Timothy Syndrome
Cutaneous syndactyly, Ventricular septal defect, Thin upper lip vermilion, Syndactyly, Cardiomega... OMIM:601005
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Membranous subvalvular aortic stenosis, Bilateral single transverse p... ORPHA:3191
Joubert Syndrome 10
Deep philtrum, Postaxial polydactyly, Thick vermilion border OMIM:300804
Yunis-Varon Syndrome
Thin vermilion border, Slender long bones with narrow diaphyses, Metatarsus adductus, Cardiomegal... ORPHA:3472
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Gastrointestinal atresia, Polydac... ORPHA:1505
Waardenburg Syndrome Type 1
Spina bifida, Aganglionic megacolon, Tented upper lip vermilion, Meningocele, Cleft upper lip, Cl... ORPHA:894
Martsolf Syndrome 1
Talipes equinovarus, Short philtrum, Tooth malposition, Short phalanx of finger, Short palm, Slen... OMIM:212720
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial polydactyly, Lobulated tongue OMIM:617127
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Camptodactyly, Natal tooth, Intestinal malrotation, Spina bifida occulta, High p... OMIM:300373
Hyperphosphatasia With Mental Retardation Syndrome 1
Short philtrum, Short toe, Downturned corners of mouth, Abnormal heart morphology, Delayed ossifi... OMIM:239300
Amish Lethal Microcephaly
Cleft soft palate, Spina bifida ORPHA:99742
Mental Retardation, Autosomal Dominant 23
Long philtrum, Broad distal phalanx of finger, Drooling, Downturned corners of mouth, Dental crow... OMIM:615761
Oculodentodigital Dysplasia
Carious teeth, Abnormal dental enamel morphology, Abnormality of the metaphysis, Median cleft lip... ORPHA:2710
Cooper-Jabs Syndrome
Camptodactyly of finger, Ventricular septal defect, Umbilical hernia, Abnormal hip bone morpholog... ORPHA:1488
Fryns Syndrome
Long philtrum, Gastroesophageal reflux, Intestinal malrotation, Wide mouth, Non-midline cleft lip... ORPHA:2059
C Syndrome
Dislocated radial head, Postaxial hand polydactyly, Toe syndactyly, Ventricular septal defect, Mi... OMIM:211750
Trisomy 20P
Camptodactyly of finger, Spina bifida, Thin vermilion border, Short philtrum, Preaxial hand polyd... ORPHA:261318
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Long philtrum, Preaxial hand polydactyly, Truncus arteriosus, Thin upper lip vermili... ORPHA:508498
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Microphthalmia, ... ORPHA:290
Oculodentodigital Dysplasia, Autosomal Recessive
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Delayed eruption of teet... OMIM:257850
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Triphalangeal thumb, Long philtrum, Atrial septal defect, Downturned corners of mouth, Open mouth... OMIM:220500
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the radius, Holoprosencephaly, Hypoplasia of the ulna, Oral cleft, Foot polydactyly... ORPHA:3186
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Ventricular septal defect, Gastroesophageal reflux, Alobar holoprose... OMIM:301043
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Ventricular septal defect, Oral cleft, Foot polydactyly, Microphthalmia, Tracheoes... ORPHA:268249
Mend Syndrome
Overlapping fingers, Hand polydactyly, Overlapping toe, Abnormal heart morphology, 2-3 toe syndac... ORPHA:401973
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus OMIM:601794
Meckel Syndrome, Type 6
Postaxial hand polydactyly, Hand polydactyly, Anencephaly, Cleft upper lip, Cleft palate, Talipes... OMIM:612284
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect, Foot oligodactyly, Esophageal varix, Syndactyly, B... OMIM:616589
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
Ventricular septal defect, Rhizomelia, 2-3 toe syndactyly, Cleft palate, Metaphyseal widening, Hi... OMIM:617164
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Microphthalmia, Postaxial foot polydactyly, High palate, Proxima... ORPHA:139471
Cat Eye Syndrome
Abnormal heart morphology, Intestinal malrotation, Anal atresia, Absent radius, Microphthalmia, C... OMIM:115470
Inverted Duplicated Chromosome 15 Syndrome
Talipes equinovarus, Short philtrum, Drooling, Ventricular septal defect, 2-3 toe syndactyly, Hig... ORPHA:3306
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Camptodactyly, Abdominal situs inversus, Pulmonic stenosis, Cleft lip,... OMIM:619123
Woods Syndrome
Limited elbow extension, Thin vermilion border, Ventricular septal defect, 3-4 finger cutaneous s... OMIM:615236
Distal Monosomy 19P13.3
Pulmonary valve atresia, Short philtrum, Ventricular septal defect, Umbilical hernia, Long toe, T... ORPHA:96129
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Preaxial foot polydactyly, Median cleft palate, Mirror image foot polydactyly, Pate... OMIM:119800
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Atrial septal defect, Ventricular septal defect, Duplication of phalan... OMIM:263630
Baraitser-Winter Syndrome 1
Long philtrum, Duplication of phalanx of hallux, Wide mouth, Oral cleft, Thin upper lip vermilion... OMIM:243310
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Ventricular septal defect OMIM:614947
Chiari Malformation Type Ii
Dysphagia, Spina bifida, Myelomeningocele, Hydrocephalus OMIM:207950
Phocomelia, Schinzel Type
Radial bowing, Hypoplasia of the radius, Abnormality of tibia morphology, Humeroradial synostosis... ORPHA:2879
Hallermann-Streiff Syndrome
Spina bifida, Thin vermilion border, Narrow palate, Narrow mouth, Everted lower lip vermilion, Na... OMIM:234100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia, Hydrocephalus OMIM:615181
Fanconi Anemia
High palate, Triphalangeal thumb, Duodenal stenosis, Hydrocephalus, Abnormality of the upper limb... ORPHA:84
Autosomal Recessive Robinow Syndrome
Open bite, Broad thumb, Downturned corners of mouth, Elbow dislocation, Split hand, Broad hallux ... ORPHA:1507
Oculodentodigital Dysplasia
Enamel hypoplasia, 3-4 toe syndactyly, Carious teeth, Atrial septal defect, 4-5 finger syndactyly... OMIM:164200
Seckel Syndrome 2
Clinodactyly of the 5th finger, Microdontia, Microglossia, Microphthalmia OMIM:606744
Syngap1-Related Developmental And Epileptic Encephalopathy
Thin vermilion border, Abnormal tongue physiology, Narrow mouth, Wide mouth, Postaxial polydactyl... ORPHA:544254
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Short philtrum, Dislocated radial head, Camptodactyly of finger, Flexion cont... OMIM:610758
Skin Creases, Congenital Symmetric Circumferential, 2
Carious teeth, Narrow mouth, Microphthalmia, Cleft palate, Microdontia, Tapered finger, Short pal... OMIM:616734
Baraitser-Winter Syndrome 2
Long philtrum, Wide mouth, Oral cleft, Thin upper lip vermilion, Microphthalmia OMIM:614583
Oculoauriculofrontonasal Syndrome
Narrow mouth, Ventricular septal defect, Cleft lip, Cleft palate, Broad philtrum ORPHA:398156
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Preaxial hand polydactyly, Ventricular septal defect, Deep philtrum, Esopha... OMIM:610536
Holoprosencephaly-Caudal Dysgenesis Syndrome
Radial club hand, Holoprosencephaly, Abnormality of the radius, Cleft palate, Median cleft lip ORPHA:2165
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Mesomelia, Hypoplasia of the ulna, Syndactyly OMIM:228940
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Broad thumb, Narrow mouth, Dental crowding, High palate, Long philtrum, Slender finger, Cleft pal... ORPHA:251028
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Emanuel Syndrome
Long philtrum, Delayed eruption of teeth, Atrial septal defect, Truncus arteriosus, Tooth malposi... ORPHA:96170
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, 3-4 toe syndactyly, Oligodontia, Persistence of primary teeth, Sandal gap, Cli... OMIM:618727
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypopla... ORPHA:1209
Vacterl/Vater Association
Preaxial hand polydactyly, Finger syndactyly, Non-midline cleft lip, Anencephaly, Aplasia/Hypopla... ORPHA:887
3Mc Syndrome 1
Atrial septal defect, Radioulnar synostosis, Dental crowding, Ventricular septal defect, Single i... OMIM:257920
Ulnar-Mammary Syndrome
Absent hand, Camptodactyly of finger, Postaxial hand polydactyly, Abnormality of finger, Ventricu... ORPHA:3138
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Opitz-Kaveggia Syndrome
Narrow palate, Broad thumb, Dental crowding, Split hand, Camptodactyly, Intestinal malrotation, P... OMIM:305450
Bardet-Biedl Syndrome 8
Polydactyly, Situs inversus totalis OMIM:615985
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Genitopalatocardiac Syndrome
Postaxial hand polydactyly, Downturned corners of mouth, Non-midline cleft lip, Cleft palate, Abn... ORPHA:2075
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Abnormality of the dentition, Ventricular septal defect OMIM:616901
Ellis Van Creveld Syndrome
Thin vermilion border, Short distal phalanx of finger, Dextrocardia, Genu valgum, Situs inversus ... ORPHA:289
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Short philtrum, Atrial septal defect, Narrow mouth, Ventricular septal defect, Camptodactyly, Thi... OMIM:617360
Microphthalmia, Syndromic 13
Diastema, Microphthalmia OMIM:300915
Bardet-Biedl Syndrome 9
Postaxial hand polydactyly, Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial foot polyda... OMIM:615986
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
3Q29 Microdeletion Syndrome
Short philtrum, Dental crowding, Everted lower lip vermilion, Gastroesophageal reflux, Abnormalit... ORPHA:65286
Duane Retraction Syndrome
Aniridia, Hypoplasia of the radius, Preaxial hand polydactyly, Optic disc hypoplasia, Everted low... ORPHA:233
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Delpire-Mcneill Syndrome
Dysphagia, Hip dislocation, Tracheoesophageal fistula, Ventricular septal defect OMIM:619083
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Bilateral cleft lip and palate, Microphthalmia ORPHA:1473
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Long philtrum, Hypoplasia of the radius, Ventricular septal defect, Hypoplastic ilia, Postaxial p... OMIM:617895
Fetal Alcohol Syndrome
Atrial septal defect, Smooth philtrum, Non-midline cleft lip, Thin upper lip vermilion, Microphth... ORPHA:1915
Multiple Benign Circumferential Skin Creases On Limbs
Long philtrum, Upper limb asymmetry, Umbilical hernia, Microphthalmia, Cleft palate ORPHA:2505
Congenital Sialidosis Type 2
Abnormal heart morphology, Polydactyly, Umbilical hernia, Protruding tongue, Gingival overgrowth,... ORPHA:93400
Chromosome 18Q Deletion Syndrome
Rocker bottom foot, Short philtrum, Atrial septal defect, Toe syndactyly, Talipes equinovarus, Do... OMIM:601808
Tarp Syndrome
Talipes equinovarus, Hypoplasia of the radius, Deep palmar crease, Tongue nodules, Short sternum,... OMIM:311900
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Atrial septal defect, Postaxial hand polydactyly, Preaxial hand... OMIM:263520
Meckel Syndrome
Postaxial hand polydactyly, Situs inversus totalis, Preaxial hand polydactyly, Bowing of the long... ORPHA:564
Cleft Lip/Palate
Agenesis of lateral incisor, Oral-pharyngeal dysphagia, Oral cleft, Peg-shaped maxillary lateral ... ORPHA:199306
Spondylo-Ocular Syndrome
Long philtrum, Thin vermilion border, Ventricular septal defect, Microphthalmia, Aplasia/Hypoplas... ORPHA:85194
Meckel Syndrome, Type 1
Postaxial hand polydactyly, Large placenta, Natal tooth, Intestinal malrotation, Anencephaly, Wid... OMIM:249000
Tetraamelia-Multiple Malformations Syndrome
Narrow mouth, Aplasia/Hypoplasia involving the pelvis, Oral cleft, Anal atresia, Septo-optic dysp... ORPHA:3301
Acro-Renal-Ocular Syndrome
Short hallux, Radial club hand, Preaxial hand polydactyly, Abnormal thumb morphology, Toe syndact... ORPHA:959
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Abnormal palmar dermatoglyphics, Atrial septal defect, Hypoplasia of teeth, Microphthalmia, Cleft... ORPHA:2728
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Epiphyseal stippling, Short 1st metacarpal, Hy... OMIM:619135
Holoprosencephaly 9
Short philtrum, Postaxial hand polydactyly, Holoprosencephaly, Agenesis of incisor, Bilateral cle... OMIM:610829
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Long philtrum, Downturned corners of mouth, Abnormal heart morphology, Overlapping toe, Deep phil... OMIM:618571
Microphthalmia, Syndromic 2
Oligodontia, Sandal gap, Hammertoe, Dextrocardia, Double outlet right ventricle, Contracture of t... OMIM:300166
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral microphthalmos, Anal atresia, Bilateral microphthalmos, Bicuspid aortic valve OMIM:619318
Focal Dermal Hypoplasia
Enamel hypoplasia, Aniridia, Oligodontia, Short metatarsal, Short phalanx of finger, Congenital h... OMIM:305600
Emanuel Syndrome
Long philtrum, Delayed eruption of primary teeth, Atrial septal defect, Truncus arteriosus, Conge... OMIM:609029
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Optic disc hypoplasia, Esophageal atresia, Duodenal atresia, Bilateral... OMIM:300514
Holoprosencephaly
Median cleft lip and palate, Hand polydactyly, Branchial anomaly, Ventricular septal defect, Broa... ORPHA:2162
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Aplasia/Hypoplasia of the patell... ORPHA:3320
Larsen Syndrome
Dislocated wrist, Multiple carpal ossification centers, Atrial septal defect, Short metatarsal, V... OMIM:150250
Bohring-Opitz Syndrome
Dislocated radial head, Short toe, Atrial septal defect, Narrow palate, Deep palmar crease, Overl... OMIM:605039
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Noonan Syndrome 12
Tetralogy of Fallot, Anteriorly placed anus, Proximal placement of thumb, Ventricular septal defect OMIM:618624
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Hydrocephalus, Ventricular septal defect OMIM:218350
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Long philtrum, Genu valgum, Atrial septal defect, Limited elbow extension, Finger joint hypermobi... OMIM:618870
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Spina bifida occulta, B... OMIM:301030
Retinitis Pigmentosa 89
Postaxial polydactyly, Esophageal varix, Bicuspid aortic valve OMIM:618955
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft palate, Cleft upper lip, Ventricular septal defect OMIM:214300
Fanconi Anemia, Complementation Group J
Microphthalmia, Short thumb OMIM:609054
15Q14 Microdeletion Syndrome
Long philtrum, Short philtrum, Atrial septal defect, Ventricular septal defect, Smooth philtrum, ... ORPHA:261190
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Atrial septal defect, Ventricular septal defect, Short 1st metacarpal, ... OMIM:609053
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Tyshchenko Syndrome
Atrial septal defect, Narrow palate, Ventricular septal defect, Pulmonic stenosis, Cleft palate, ... OMIM:615102
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Finger syndactyly, Ventricular septal defect, Hypo... ORPHA:2256
Cloacal Exstrophy
Absent foot, Spina bifida, Abnormality of tibia morphology, Intestinal malrotation, Intestinal du... ORPHA:93929
Johnson Neuroectodermal Syndrome
Carious teeth, Preaxial hand polydactyly, Hand polydactyly, Everted lower lip vermilion, Cleft pa... ORPHA:2316
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia, Cleft palate, Bifid uvula, Metatarsus valgus, Hydrocephalus, Submuc... ORPHA:899
Methylmalonate Semialdehyde Dehydrogenase Deficiency
High palate, Long philtrum, Microphthalmia, Tented upper lip vermilion OMIM:614105
Fryns Syndrome
Camptodactyly, Intestinal malrotation, Short distal phalanx of finger, Short thumb, Prominent fin... OMIM:229850
19P13.3 Microduplication Syndrome
Hip dysplasia, Short philtrum, Hip subluxation, Narrow mouth, Ventricular septal defect, Gastroes... ORPHA:447980
Monosomy 9Q22.3
Cardiac fibroma, Long philtrum, Delayed eruption of teeth, Narrow mouth, Odontogenic keratocysts ... ORPHA:77301
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Thin vermilion border, Downturned corners of mouth, High palate, Long philtrum, Gastroesophageal ... OMIM:610759
Ventriculomegaly With Cystic Kidney Disease
Postaxial polydactyly, Hydrocephalus, Ventricular septal defect OMIM:219730
Kapur-Toriello Syndrome