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
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Synpolydactyly 1
Short middle phalanx of the 5th finger, 4-5 toe syndactyly, 6 metacarpals, Postaxial foot polydac... OMIM:186000
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Non-midline cleft lip, Anencephaly, Hypoplastic left heart, Spina bifida, Ventricul... ORPHA:2476
Gombo Syndrome
Brachydactyly, Clinodactyly, Microphthalmia, Abnormal heart morphology, Radial deviation of finger OMIM:233270
Orofaciodigital Syndrome Xviii
Brachydactyly, Accessory oral frenulum, Short philtrum, Single transverse palmar crease, Sandal g... OMIM:617927
Meckel Syndrome, Type 8
Anophthalmia, Cleft upper lip, Polydactyly, Microphthalmia, Postaxial hand polydactyly, Talipes e... OMIM:613885
Biemond Syndrome Type 2
Microphthalmia, Preaxial polydactyly, Hydrocephalus ORPHA:141333
Meckel Syndrome, Type 5
Bowing of the long bones, Cleft upper lip, Postaxial foot polydactyly, Occipital encephalocele, A... OMIM:611561
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly OMIM:174200
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta ORPHA:64754
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Finger syndactyly, Triphalangeal thumb, High, narrow palate, Short di... ORPHA:957
Fryns Microphthalmia Syndrome
Neural tube defect, Anophthalmia, Bilateral cleft lip and palate, Microphthalmia OMIM:600776
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Syndactyly, Polydactyly, Abnormal heart morphology, Upper limb phoc... ORPHA:294975
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Metatarsus adductus, Polydactyly, Postaxial po... OMIM:613005
Mmep Syndrome
Triphalangeal thumb, Microphthalmia, Ventricular septal defect, Oral cleft, Split foot, Median cl... ORPHA:3434
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Anencephaly, Postaxial hand polydactyly, Hydrocephalus, Cleft palate,... OMIM:614120
Polydactyly, Preaxial Iv
Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, 3-4 finger syndactyly, Dy... OMIM:174700
Meckel Syndrome, Type 2
Bowing of the long bones, Anencephaly, Polydactyly, Microphthalmia, Postaxial hand polydactyly, M... OMIM:603194
Macrosomia With Microphthalmia, Lethal
Microphthalmia, Median cleft palate OMIM:248110
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Dermatoglyphic ridges abnormal, Small thenar eminence, Small hypothenar eminence, Long philtrum, ... OMIM:211960
Meckel Syndrome, Type 4
Bowing of the long bones, Atrial septal defect, Anencephaly, Microphthalmia, Postaxial hand polyd... OMIM:611134
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Broad hallux, Hallux varus, Syndactyly OMIM:234280
Acalvaria
Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Holoprosencephaly, Cleft palate ORPHA:945
Acromelic Frontonasal Dysostosis
Cleft upper lip, Preaxial polydactyly, U-Shaped upper lip vermilion, Polydactyly, Talipes equinov... OMIM:603671
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Microphthalmia, Oral cleft, Bilateral microphthalmos, Holoprosencephaly OMIM:611638
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Syndactyly, Type Iv
6 metacarpals, 2-3 toe syndactyly, Triphalangeal thumb, Supernumerary metacarpal bones, Polydacty... OMIM:186200
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
Anencephaly 2
Cleft of alveolar ridge of maxilla, Anophthalmia, Median cleft palate, Anencephaly, Median cleft lip OMIM:619452
Frontonasal Dysplasia 1
Brachydactyly, Clinodactyly, Tetralogy of Fallot, Median cleft palate, Cranium bifidum occultum, ... OMIM:136760
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Short distal phalanx of finger, Ventricular septal defect, Truncus arteriosus, C... OMIM:601355
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Talipes equinovarus, Microphthalmia, Cleft palate OMIM:616570
Hartsfield Syndrome
Encephalocele, Non-midline cleft lip, Lobar holoprosencephaly, Microphthalmia, Split hand, Cleft ... ORPHA:2117
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
Acropectoral Syndrome
Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly OMIM:605967
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Diprosopus
Non-midline cleft lip, Anencephaly, Cleft palate, Abnormal cardiac septum morphology ORPHA:1681
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Toe syndactyly, Finger syndactyly, Postaxial foot polydactyly, Preaxial hand polyd... ORPHA:380
Feingold Syndrome 2
2-3 toe syndactyly, 3-4 toe syndactyly, Short thumb, Short middle phalanx of the 2nd finger, Inte... OMIM:614326
Robin Sequence-Oligodactyly Syndrome
Abnormality of the ulna, Hand oligodactyly, Clinodactyly of the 5th finger, Glossoptosis, Abnorma... ORPHA:3104
Orofaciodigital Syndrome Type 10
Accessory oral frenulum, Hypoplasia of proximal radius, Long philtrum, Cleft soft palate, Multipl... ORPHA:2756
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Bilateral talipes equinovarus, High palate, Atrial septal defect, Overlapping fingers, Preaxial p... OMIM:618142
Otopalatodigital Syndrome Type 2
Carpal synostosis, Short thumb, Cleft palate, Encephalocele, Synostosis of carpal bones, Bowing o... ORPHA:90652
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Multiple Synostoses Syndrome 3
Limited interphalangeal movement, Broad hallux, Cubitus valgus, Humeroradial synostosis, Broad th... OMIM:612961
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, 1-2 toe complete cutaneous syndactyly, Bifid distal phalanx of toe, Preaxial hand poly... OMIM:186350
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
2Q24 Microdeletion Syndrome
Toe syndactyly, Bullet-shaped distal phalanx of the hallux, Short philtrum, Abnormal oral frenulu... ORPHA:1617
Schisis Association
Anencephaly, Tracheoesophageal fistula, Unilateral cleft lip, Anal atresia, Micromelia, Spina bif... ORPHA:63862
Catel-Manzke Syndrome
Metatarsus valgus, Abnormality of epiphysis morphology, Atrial septal defect, Clinodactyly of the... ORPHA:1388
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Duane-Radial Ray Syndrome
Small thenar eminence, Sandal gap, Short thumb, Ventricular septal defect, Aplasia of metacarpal ... OMIM:607323
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Ventricular septal defect, Short toe OMIM:615297
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Feingold Syndrome Type 2
Brachydactyly, Toe syndactyly, Short thumb, Jejunal atresia, Short middle phalanx of finger, Vent... ORPHA:391646
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia, Oral cleft, Hydrocephalus ORPHA:324416
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Single transverse palmar crease, 2-3 toe syndactyly, Postaxial... OMIM:617866
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Lobulated tongue, Preaxial polydactyly, Squared iliac bones, Anal atresia, Cleft lip,... OMIM:616300
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Preaxial hand polydactyly, Cleft upper lip, Cleft palate OMIM:601420
Ivic Syndrome
Small thenar eminence, Carpal synostosis, Short thumb, Short 1st metacarpal, Hypoplasia of deltoi... OMIM:147750
Xk Aprosencephaly Syndrome
Narrow mouth, Atrial septal defect, Anal atresia, Microphthalmia, Ventricular septal defect, Abno... ORPHA:3469
Hydrolethalus
Bifid uvula, Anophthalmia, Anencephaly, Unilateral cleft lip, Submucous cleft hard palate, Microm... ORPHA:2189
Endocrine-Cerebroosteodysplasia
Brachydactyly, Cleft upper lip, Postaxial polydactyly, Sandal gap, Preaxial polydactyly, Polydact... OMIM:612651
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Polysyndactyly of hallux, Aganglionic megacolon, Ventricular septal defect, Preaxial foot polydac... OMIM:235750
Oculocerebrocutaneous Syndrome
Anophthalmia, Congenital hip dislocation, Microphthalmia, Orbital encephalocele, Cleft palate OMIM:164180
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Atrial septal defect, Anencephaly, Aplastic clavicle, Preaxial polydactyly... OMIM:616546
Biemond Syndrome Ii
Preaxial hand polydactyly, Hydrocephalus OMIM:210350
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Microphthalmia, Ventricular septal defect, Smooth philtrum, Hydrocephalus, Syndactyly OMIM:602501
Cousin Syndrome
Clinodactyly of the 5th finger, Hypoplastic iliac wing, Cleft palate, Hypoplastic pubic bone, 2-3... OMIM:260660
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Blepharocheilodontic Syndrome 1
Clinodactyly, Cleft upper lip, Cutaneous syndactyly, Conical tooth, Hypodontia, Anal atresia, Neu... OMIM:119580
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect ORPHA:1918
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Cleft palate, Encephalocele ORPHA:217
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
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
Anophthalmia Plus Syndrome
Anophthalmia, Deviation of finger, Non-midline cleft lip, Spina bifida, Bilateral cleft lip and p... ORPHA:1104
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Hypoplasia of the ulna, Short long bone, Cleft upper lip, Fibular hypoplasia, Abse... OMIM:613091
Oculofaciocardiodental Syndrome
Long philtrum, Hammertoe, Clinodactyly of the 5th finger, Broad palm, Short thumb, Flexion contra... ORPHA:2712
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Finger syndactyly, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, A... ORPHA:1908
Microphthalmia With Limb Anomalies
High palate, Toe syndactyly, Anophthalmia, Single transverse palmar crease, Hand oligodactyly, Po... OMIM:206920
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Preaxial hand polydactyly, Large hands, Oral cleft ORPHA:85287
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Cleft palate, Postaxial polydactyly OMIM:614175
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Foot oligodactyly, Bilateral cleft lip and palate, Ventricular septal defect, An... OMIM:601357
Orofaciodigital Syndrome Vi
Tongue nodules, High palate, Clinodactyly, Brachydactyly, Central Y-shaped metacarpal, Toe syndac... OMIM:277170
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Postaxial hand polydactyly, Hyd... OMIM:607361
Mohr Syndrome
Clinodactyly of the 5th finger, Agenesis of central incisor, Syndactyly, Bilateral postaxial poly... OMIM:252100
Greig Cephalopolysyndactyly Syndrome
Postaxial foot polydactyly, Preaxial foot polydactyly, 1-3 toe syndactyly, Broad hallux, Abnormal... OMIM:175700
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia, Arrhinencephaly, Frontal encephalocele OMIM:218670
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Frontal encephalocele, Microphthalmia, Hydrocephalus, Arrhinencephaly ORPHA:1528
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Brachydactyly, Polydactyly OMIM:617405
Split-Hand/Foot Malformation 1
Clinodactyly, Hand oligodactyly, Triphalangeal thumb, Broad hallux, Split foot, Foot oligodactyly... OMIM:183600
Isolated Klippel-Feil Syndrome
Ectopic anus, Anal atresia, Spina bifida, Ventricular septal defect, Cleft palate, Abnormal shoul... ORPHA:2345
Parietal Foramina 1
Cleft upper lip, Cleft palate, Encephalocele OMIM:168500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Aase-Smith Syndrome I
Slender finger, Open mouth, Ventricular septal defect, Hydrocephalus, Talipes equinovarus, Cleft ... OMIM:147800
14Q11.2 Microdeletion Syndrome
Narrow mouth, High palate, Toe syndactyly, Toe clinodactyly, Long philtrum, Everted lower lip ver... ORPHA:261120
Ulnar Hemimelia
Carpal synostosis, Curved toe phalanx, Radial club hand, Short forearm, Aplasia of metacarpal bon... ORPHA:93320
Eng-Strom Syndrome
Brachydactyly, Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morpho... ORPHA:1937
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Median cleft palate ORPHA:2432
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Mesoaxial Hexadactyly And Cardiac Malformation
Abnormal 3rd finger morphology, Atrial septal defect, Everted lower lip vermilion, Hand polydacty... OMIM:249670
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Narrow mouth, Postaxial hand polydactyly, Ventricular septal defect, Hydrocephalus, Abnormal card... ORPHA:83473
Cleft Palate, Cardiac Defects, And Mental Retardation
Short 2nd finger, Cleft upper lip, 2-3 toe syndactyly, Cutaneous syndactyly, Atrial septal defect... OMIM:600987
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal thumb morphology, Atrial septal defect, Triphalangeal thumb, Short thumb, Abnormal aorti... ORPHA:1120
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Mend Syndrome
High palate, 2-3 toe syndactyly, Overlapping fingers, Polydactyly, Long fingers, Hydrocephalus, A... OMIM:300960
Meier-Gorlin Syndrome 7
Complete atrioventricular canal defect, High palate, Bowing of the legs, Clubbing, Narrow mouth, ... OMIM:617063
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft upper lip, Holoprosencephaly, Microphthalmia, Talipes equinovarus, Cleft palate OMIM:612530
Arthrogryposis, Distal, Type 1C
Narrow mouth, High palate, Bifid uvula, Metacarpophalangeal joint contracture, Rocker bottom foot... OMIM:619110
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Broad proximal phalanges of the hand, Cleft upper lip, Optic nerve hypop... OMIM:607597
Microphthalmia, Syndromic 8
Cleft upper lip, Microphthalmia, Widely-spaced maxillary central incisors, Cleft palate, Oral cle... OMIM:601349
Pallister-Hall-Like Syndrome
Occipital encephalocele, Microglossia, Abnormal heart morphology, Micromelia, Postaxial hand poly... OMIM:241800
Sonoda Syndrome
Narrow mouth, High axial triradius, Ventricular septal defect OMIM:270460
Chromosome 13Q33-Q34 Deletion Syndrome
Small thenar eminence, Tapered finger, Short thumb, Tented upper lip vermilion, Left ventricular ... OMIM:619148
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
3P25.3 Microdeletion Syndrome
Acromesomelia, Congenital pseudoarthrosis of the clavicle, Short philtrum, Atrial septal defect, ... ORPHA:435638
Czeizel-Losonci Syndrome
High palate, Myelomeningocele, Single transverse palmar crease, Clubbing of toes, Tracheoesophage... ORPHA:2437
17Q12 Microduplication Syndrome
Toe syndactyly, Finger syndactyly, Atrial septal defect, Tracheoesophageal fistula, Microphthalmi... ORPHA:261272
Pelvis-Shoulder Dysplasia
Hypoplastic ischia, Hypoplastic pubic bone, Absent proximal finger flexion creases, Aplasia/Hypop... ORPHA:2839
Frontal Encephalocele
Spina bifida, Encephalocele, Hydrocephalus ORPHA:1931
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Rhizomelic Syndrome, Urbach Type
Brachydactyly, High palate, Abnormality of epiphysis morphology, Rhizomelia, Triphalangeal thumb,... ORPHA:3098
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Sandal gap, Clinodactyly of the 5th finger, High, narrow palate, Ventricu... ORPHA:2515
Stromme Syndrome
Intestinal malrotation, Preaxial polydactyly, Optic nerve hypoplasia, Microphthalmia, Jejunal atr... OMIM:243605
Orofaciodigital Syndrome Type 6
Tongue nodules, High palate, Brachydactyly, Foot polydactyly, Mesoaxial polydactyly, Central Y-sh... ORPHA:2754
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Oculoauriculofrontonasal Syndrome
Narrow mouth, Cleft lip, Ventricular septal defect, Broad philtrum, Cleft palate, Encephalocele ORPHA:398156
Nanophthalmos 4
Microphthalmia OMIM:615972
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ectopic anus, Short philtrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hyp... ORPHA:94066
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Long philtrum, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th... ORPHA:1106
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Interphalangeal joint contracture of finger, Thin upper lip vermilion, Preaxial hand polydactyly,... OMIM:606242
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Catel-Manzke Syndrome
Overriding aorta, High palate, Ulnar deviation of the 2nd finger, Single transverse palmar crease... OMIM:616145
Laurin-Sandrow Syndrome
Hydrocephalus, Toe syndactyly, Finger syndactyly, Absent radius, Absent tibia, Mirror image polyd... ORPHA:2378
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Split foot, Tetralogy of Fallot, Ventricular septal defect, Hypoplastic right heart OMIM:601348
Bardet-Biedl Syndrome 5
Brachydactyly, Syndactyly, Polydactyly OMIM:615983
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Holzgreve Syndrome
Hypoplastic left heart, Hand polydactyly, Cleft upper lip, Cleft palate OMIM:236110
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Cleft upper lip, 2-3 toe syndactyly, Tricuspid atresia, P... OMIM:264480
Intellectual Developmental Disorder, Autosomal Recessive 73
Single transverse palmar crease, Drooling, Clinodactyly of the 5th finger, Widely spaced teeth, T... OMIM:619717
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Pyloric stenosis, Camptodacty... OMIM:614262
Pentalogy Of Cantrell
Tetralogy of Fallot, Abnormal pericardium morphology, Non-midline cleft lip, Atrial septal defect... ORPHA:1335
Distal Monosomy 13Q
Aplasia/Hypoplasia of the thumb, Anencephaly, Aplasia/Hypoplasia affecting the eye, Anal atresia,... ORPHA:1590
Filippi Syndrome
Short philtrum, Single transverse palmar crease, Cutaneous syndactyly, Hypodontia, Microdontia, 2... OMIM:272440
Camptodactyly Syndrome, Guadalajara Type 1
Brachydactyly, High palate, Toe syndactyly, Narrow mouth, Open bite, Abnormality of dental erupti... ORPHA:1327
Fibular Hemimelia
Fibular hypoplasia, Spina bifida, Short tibia, Short toe, Abnormal morphology of ulna, Arthralgia... ORPHA:93323
Lambotte Syndrome
Semilobar holoprosencephaly, Ventricular septal defect, Narrow mouth, Preaxial foot polydactyly OMIM:245552
Pierpont Syndrome
Everted lower lip vermilion, Widely spaced teeth, Microphthalmia, Deep palmar crease, Short finge... ORPHA:487825
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short philtrum, Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Microphthalmia, Hypoplastic... ORPHA:163966
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis, Abnormal hand morphology OMIM:122850
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia, Cleft upper lip, Cleft palate OMIM:120433
Carpenter Syndrome 1
Genu varum, Clinodactyly of the 5th finger, Complete duplication of proximal phalanx of the thumb... OMIM:201000
Microgastria-Limb Reduction Defect Syndrome
Short thumb, Esophagitis, Abnormality of the humerus, Rectovaginal fistula, Anophthalmia, Phocome... ORPHA:2538
Pierpont Syndrome
Short palm, Broad palm, Everted lower lip vermilion, Widely spaced teeth, Long upper lip, Promine... OMIM:602342
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Dextrocardia, Anophthalmia, Cleft palate OMIM:221950
Bardet-Biedl Syndrome 7
Narrow mouth, Clinodactyly, 2-3 toe syndactyly, Polydactyly, Postaxial polydactyly OMIM:615984
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Chromosome 17Q12 Duplication Syndrome
Brachydactyly, Cleft soft palate, Atrial septal defect, Esophageal atresia, Microphthalmia, Smoot... OMIM:614526
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Short philtrum, Abnormality of epiphysis morphology, Rhizomelia, Microp... ORPHA:93267
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, 2-3 toe syndactyly, Cleft palate, Cutaneous finger syndactyly, Split hand, Split ... DECIPHER:46
Orofaciodigital Syndrome Viii
High palate, Polydactyly, Short tibia, Cleft palate, Median cleft lip, Syndactyly OMIM:300484
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus OMIM:614830
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Morphological abnormality of the gastrointestinal tract, Bifid uvula, 2-3 toe syndactyly, Postaxi... ORPHA:404440
Carpenter Syndrome
Brachydactyly, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Polydactyly, Talipes... ORPHA:65759
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Atrial septal defect, Everted lower lip vermilion, Tented upper lip vermilion, Cl... OMIM:616898
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Overlapping fingers, Short hallux, Short thumb, Broad hallux, Adducted thumb, Shor... OMIM:618167
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Tapered finger, Short phalanx of finger, Long fingers, Proximal placement o... OMIM:613458
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Tetralogy of Fallot, Hypoplastic pubic bone, Short long b... OMIM:617925
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate, Hydrocephalus OMIM:258320
Joubert Syndrome 14
Hydrocephalus, Short philtrum, Open mouth, Tented upper lip vermilion, Microphthalmia, Postaxial ... OMIM:614424
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, High palate, Narrow mouth ORPHA:2528
Sirenomelia
Tracheoesophageal fistula, Anal atresia, Sirenomelia, Spina bifida, Aplasia/Hypoplasia of the radius ORPHA:3169
Moebius Syndrome
Brachydactyly, High palate, Clinodactyly, Bifid uvula, Abnormality of pelvic girdle bone morpholo... OMIM:157900
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Brachydactyly-Preaxial Hallux Varus Syndrome
Brachydactyly, Abnormal palate morphology, Radial club hand, Short metacarpal, Preaxial hand poly... ORPHA:1278
Pelger-Huet Anomaly
Short 5th metacarpal, Median cleft palate, Short 4th metacarpal, Upper limb undergrowth, Polydact... OMIM:169400
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of proximal phalanges, Rhizomelia, Metaphyseal cupping, Microphthalmia, Hypop... OMIM:300863
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Anal atresia, Sirenomelia, Spinal dysraphis... ORPHA:63260
Pelvis-Shoulder Dysplasia
Hypoplastic acetabulae, Clinodactyly of the 5th finger, Congenital hip dislocation, Hypoplastic s... OMIM:169550
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Metaphyseal irregularit... OMIM:603546
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Trisomy 4P
Abnormal palate morphology, Abnormality of the dentition, Radial club hand, Carious teeth, Preaxi... ORPHA:1738
Oculoauriculovertebral Spectrum With Radial Defects
Ectopic anus, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Triphalangeal thumb, Aplasi... ORPHA:2549
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Brachydactyly, Postaxial polydactyly, Preaxial polydactyly, Acetabular spurs, Ventricular septal ... OMIM:615503
Faciothoracogenital Syndrome
Microphthalmia, Thin upper lip vermilion, Long philtrum, Smooth philtrum OMIM:227320
Orofaciodigital Syndrome Xi
Gastroesophageal reflux, Cleft palate, Postaxial polydactyly OMIM:612913
Acrocallosal Syndrome
Long philtrum, Clinodactyly of the 5th finger, Tapered finger, Cleft palate, Triangular mouth, Br... OMIM:200990
Jackson-Weiss Syndrome
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Abnormal palate morphology, 2-... ORPHA:1540
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Lobulated tongue, Atrial septal defect, Bifid tongue, Preaxial polydacty... OMIM:615948
Temtamy Syndrome
Brachydactyly, Genu varum, Abnormal palate morphology, Clinodactyly of the 5th finger, Thick lowe... ORPHA:1777
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Postaxial hand polydactyly, Preaxial foot polydactyly ORPHA:2091
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Tetralogy of Fallot, Hypoplasia of the ulna, Absent radius, Atrial septal defect, Clinodactyly of... OMIM:600123
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Bardet-Biedl Syndrome 6
Syndactyly, Polydactyly OMIM:605231
Cerebrooculofacioskeletal Syndrome 1
Coxa valga, Elbow flexion contracture, Long philtrum, Second metatarsal posteriorly placed, Rocke... OMIM:214150
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Hip dysplasia, Cleft palate, Hip disloca... ORPHA:93322
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle, Anal atresia, Pulmonic ... OMIM:220210
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Preaxial foot polydactyly, Postaxial hand polydactyly, Bilateral triphalangeal thumbs OMIM:138790
Joubert Syndrome 16
Encephalocele, Polydactyly OMIM:614465
Orofaciodigital Syndrome Iv
Tongue nodules, High palate, Clinodactyly, Brachydactyly, Foot polydactyly, Toe syndactyly, Acces... OMIM:258860
Monosomy 18P
Brachydactyly, Short philtrum, Hypodontia, Carious teeth, Microphthalmia, Holoprosencephaly, Down... ORPHA:1598
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Clinodactyly, Microphthalmia, Syndactyly OMIM:610023
Vater/Vacterl Association
Tetralogy of Fallot, Absent radius, Occipital encephalocele, Preaxial polydactyly, Tracheoesophag... OMIM:192350
14Q24.1Q24.3 Microdeletion Syndrome
Brachydactyly, Long philtrum, Atrial septal defect, Intestinal malrotation, Dislocated radial hea... ORPHA:401935
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Frontorhiny
Brachydactyly, Cranium bifidum occultum, Basal encephalocele, Microphthalmia, Finger clinodactyly... ORPHA:391474
Lambert Syndrome
Branchial anomaly, Ventricular septal defect, Wide mouth ORPHA:1296
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Glossoptosis, Ventricular septal defect OMIM:614876
Bresek Syndrome
Optic nerve hypoplasia, Aganglionic megacolon, Microphthalmia, Postaxial hand polydactyly, Hydroc... ORPHA:85284
Coffin-Siris Syndrome 10
Clinodactyly, Persistence of primary teeth, Ventricular septal defect, Wide mouth OMIM:618506
Orofaciodigital Syndrome Xvii
Clinodactyly, Tetralogy of Fallot, Central Y-shaped metacarpal, Partial duplication of thumb phal... OMIM:617926
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Meso... ORPHA:1354
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Brachydactyly, Tetralogy of Fallot, Finger syndactyly, Gastr... ORPHA:974
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pierre-Robin sequence, High palate, Short 5th metacarpal, Long philtrum, Thin upper lip vermilion... OMIM:617877
Diabetic Embryopathy
Hydrocephalus, Tetralogy of Fallot, Aplasia/Hypoplasia affecting the eye, Spinal dysraphism, Vent... ORPHA:1926
Curry-Jones Syndrome
Toe syndactyly, Foot polydactyly, Finger syndactyly, Intestinal malrotation, Microphthalmia, Prea... ORPHA:1553
Enlarged Parietal Foramina
Myelomeningocele, Occipital encephalocele, Cleft lip, Broad thumb, Short clavicles, Cleft palate ORPHA:60015
Brachydactyly, Type B1
Short long bone, Aplasia/Hypoplasia of the distal phalanges of the hand, Joint contracture of the... OMIM:113000
Diaphanospondylodysostosis
Narrow pelvis bone, Myelomeningocele, Cleft palate ORPHA:66637
Triploidy
Narrow mouth, Finger syndactyly, Non-midline cleft lip, Intestinal malrotation, Aplasia/Hypoplasi... ORPHA:3376
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Ventricular septal defect, Hypoplastic left atrium OMIM:615524
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Brachydactyly, Non-midline cleft lip, Abnormality of the philtrum, Ventricular septal defect, Bro... ORPHA:1770
Au-Kline Syndrome
High palate, Open mouth, Oligodontia, Overlapping toe, Deep palmar crease, Postaxial polydactyly,... OMIM:616580
Fountain Syndrome
Brachydactyly, Abnormal palate morphology, Abnormal metacarpal morphology, Everted lower lip verm... ORPHA:3219
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
8P23.1 Duplication Syndrome
Toe syndactyly, Tetralogy of Fallot, Long philtrum, Pulmonic stenosis, Ventricular septal defect,... ORPHA:251076
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Trisomy 13
Abnormality of pelvic girdle bone morphology, Anophthalmia, Long philtrum, Atrial septal defect, ... ORPHA:3378
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Brachydactyly, Small thenar eminence, Patent foramen ovale, 2-3 toe syndactyly, Sandal gap, Joint... OMIM:618914
Curry-Jones Syndrome
Anal stenosis, Intestinal malrotation, Microphthalmia, Duplication of thumb phalanx, Preaxial han... OMIM:601707
Trisomy 1Q
Narrow mouth, Toe syndactyly, Anophthalmia, Anal atresia, Arachnodactyly, Preaxial hand polydacty... ORPHA:261344
Sandestig-Stefanova Syndrome
High palate, Clinodactyly, Rocker bottom foot, Muscular ventricular septal defect, Microphthalmia... OMIM:618804
3C Syndrome
Abnormal hip bone morphology, Abnormal mitral valve morphology, High, narrow palate, Hypoplastic ... ORPHA:7
Kapur-Toriello Syndrome
Single transverse palmar crease, Cleft upper lip, Atrial septal defect, Intestinal malrotation, O... OMIM:244300
Char Syndrome
Toe syndactyly, Thick vermilion border, Short philtrum, Clinodactyly of the 5th finger, Everted l... ORPHA:46627
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Brachydactyly, Bifid uvula, Protruding tongue, Hypertrophic cardiomyopathy, Macroglossia, Ventric... OMIM:612938
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Tracheoesophageal fistula, Esophageal atresia, Microphthalmia, Ventricular septal d... ORPHA:77298
3Q29 Microduplication Syndrome
High palate, Ectopic anus, Toe syndactyly, Sandal gap, Deep philtrum, Microphthalmia, Aniridia, V... ORPHA:251038
Cerebrocostomandibular Syndrome
Myelomeningocele, Clinodactyly of the 5th finger, Hydranencephaly, Spina bifida, Short hard palat... ORPHA:1393
Focal Dermal Hypoplasia
Upper limb asymmetry, Open bite, Spina bifida, Ventricular septal defect, Coarse metaphyseal trab... ORPHA:2092
Fanconi Anemia, Complementation Group L
Absent thumb, Tracheoesophageal fistula, Esophageal atresia, Anal atresia, Microphthalmia, Hydroc... OMIM:614083
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Long philtrum, Preaxial hand polydactyly, Exencephaly, Broad th... ORPHA:2211
Mosaic Trisomy 1
Absent distal interphalangeal creases, Hand clenching, Ventricular septal defect, Cleft palate, 2... ORPHA:1692
Mosaic Trisomy 9
High palate, Abnormal heart valve morphology, Endocardial fibroelastosis, Atrial septal defect, I... ORPHA:99776
Bardet-Biedl Syndrome 4
Brachydactyly, Abnormality of the dentition, Syndactyly, Polydactyly OMIM:615982
Rhombencephalosynapsis
Narrow mouth, Septo-optic dysplasia, Finger syndactyly, Tracheoesophageal fistula, Aganglionic me... ORPHA:59315
Trisomy 18
Narrow mouth, Abnormal hip bone morphology, Deviation of finger, Bilateral single transverse palm... ORPHA:3380
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Steinfeld Syndrome
Bifid uvula, Hypoplasia of the ulna, Phocomelia, Aplasia/Hypoplasia of the thumb, Hypoplasia of t... OMIM:184705
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Mullegama-Klein-Martinez Syndrome
Short philtrum, Long philtrum, Clinodactyly of the 5th finger, Polydactyly, Cleft lip, Hypoplasti... OMIM:301022
Caudal Duplication
Intestinal duplication, Spina bifida, Myelomeningocele ORPHA:1756
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Bifid uvula, Cleft upper lip, Atrial septal defect, Triphalangeal thumb, Sho... OMIM:612561
Orofaciodigital Syndrome Type 2
Broad first metatarsal, Agenesis of central incisor, Mesomelic leg shortening, Hamartoma of tongu... ORPHA:2751
Basal Cell Nevus Syndrome
Brachydactyly, Cardiac fibroma, Odontogenic keratocysts of the jaw, Irregular ossification of han... OMIM:109400
Suleiman-El-Hattab Syndrome
Brachydactyly, High palate, Clinodactyly, Single transverse palmar crease, Patent foramen ovale, ... OMIM:618950
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
High palate, Clinodactyly, Patent foramen ovale, Open mouth, Widely spaced teeth, Macroglossia, A... ORPHA:369891
Weyers Ulnar Ray/Oligodactyly Syndrome
Absent thumb, High palate, Solitary median maxillary central incisor, Cleft upper lip, Hand oligo... OMIM:602418
2Q31.1 Microdeletion Syndrome
Abnormality of the ulna, Long philtrum, Sandal gap, Clinodactyly of the 5th finger, Tapered finge... ORPHA:251014
8Q12 Microduplication Syndrome
Narrow mouth, Long philtrum, Atrial septal defect, Gastroesophageal reflux, Everted lower lip ver... ORPHA:228399
Ritscher-Schinzel Syndrome 2
Clinodactyly, Short philtrum, Atrial septal defect, Broad hallux, Short distal phalanx of finger,... OMIM:300963
Limb Body Wall Complex
Aplasia of the proximal phalanges of the hand, Spina bifida, Forearm reduction defects, Ventricul... ORPHA:2369
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Slender finger, Flattened epiphysis, Coxa valga, Long philtrum, Microphthalmia, Abno... ORPHA:163649
Femoral-Facial Syndrome
Abnormality of pelvic girdle bone morphology, Long philtrum, Preaxial foot polydactyly, Abnormali... ORPHA:1988
Burn-Mckeown Syndrome
Narrow mouth, Short philtrum, Bifid uvula, Cleft upper lip, 2-3 toe syndactyly, Atrial septal def... OMIM:608572
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Spinal Muscular Atrophy, Type I
Atrial septal defect, Tongue fasciculations, Ventricular septal defect OMIM:253300
Alg3-Cdg
High palate, Abnormality of the gastrointestinal tract, Abnormality of limb bone morphology, Meta... ORPHA:79321
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Brachydactyly, High palate, Bowing of the long bones, Short long bone, Agenesis of permanent teet... OMIM:614091
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Accessory oral frenulum, Short philtrum, Conical tooth, A... OMIM:619142
Solitary Median Maxillary Central Incisor
Solitary median maxillary central incisor, Anophthalmia, Cleft upper lip, Microphthalmia, Torus p... OMIM:147250
Vacterl/Vater Association
Finger syndactyly, Non-midline cleft lip, Occipital encephalocele, Anencephaly, Tracheoesophageal... ORPHA:887
Gracile Bone Dysplasia
Brachydactyly, Flared metaphysis, Microphthalmia, Aniridia, Hydrocephalus, Slender long bone, Ank... OMIM:602361
Nephrotic Syndrome, Type 11
High palate, Clinodactyly, Dilated cardiomyopathy, Partial duplication of thumb phalanx, Cleft li... OMIM:616730
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Short philtrum, Atrial septal defect, Thick lower lip vermilion, Widely-spaced maxillary central ... OMIM:608227
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Abnormality of the palmar creases, Atrial septal defect, Microphthalmia, Ve... OMIM:618652
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Atrial septal defect, Abnormally large globe, Ventricular septal defect, Postaxial... OMIM:603387
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Absent radius, Isomerism, Tracheoesophageal fistula, Hand polydactyly, Anal atresi... OMIM:314390
Phaver Syndrome
Myelomeningocele, Triphalangeal thumb, Short thumb, Radioulnar synostosis, Ventricular septal def... ORPHA:2876
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Brachydactyly, Short long bone, Cone-shaped epiphyses of the phalanges of the hand, Postaxial han... OMIM:615630
Holt-Oram Syndrome
Absent thumb, Finger syndactyly, Phocomelia, Atrial septal defect, Triphalangeal thumb, Broad thu... ORPHA:392
Holoprosencephaly-Postaxial Polydactyly Syndrome
Narrow mouth, Intestinal malrotation, Anal atresia, Oral cleft, Microphthalmia, Postaxial hand po... ORPHA:2166
Marden-Walker Syndrome
Narrow mouth, High palate, Long philtrum, Zollinger-Ellison syndrome, Dextrocardia, High, narrow ... OMIM:248700
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Teebi-Shaltout Syndrome
Narrow mouth, Single transverse palmar crease, Rocker bottom foot, Oligodontia, Caudal appendage,... OMIM:272950
Joubert Syndrome 18
Camptodactyly, Ventricular septal defect, Polydactyly OMIM:614815
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Stevenson-Carey Syndrome
Narrow mouth, Pierre-Robin sequence, Atrial septal defect, Gastroesophageal reflux, Microphthalmi... OMIM:611961
Acromelic Frontonasal Dysplasia
Median cleft palate, Patellar hypoplasia, Aplasia/Hypoplasia of the tibia, Wide mouth, Median cle... ORPHA:1827
Bartsocas-Papas Syndrome 2
Accessory oral frenulum, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Microphthalmia... OMIM:619339
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Acrofacial Dysostosis 1, Nager Type
Clinodactyly, Ventricular septal defect, Hallux valgus, Short toe, Cleft palate, Hip dislocation,... OMIM:154400
Orofaciodigital Syndrome V
High palate, Tetralogy of Fallot, Bifid uvula, Postaxial foot polydactyly, Lobulated tongue, Sand... OMIM:174300
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, High palate, Cleft palate, Tooth agenesis ORPHA:1135
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
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Bilateral microphthalmos, Cervical spina bifida OMIM:600122
Cofs Syndrome
Microphthalmia, Camptodactyly of finger, Everted lower lip vermilion ORPHA:1466
Carpenter Syndrome 2
Brachydactyly, High palate, Postaxial polydactyly, Atrial septal defect, Aplasia of the middle ph... OMIM:614976
Galloway-Mowat Syndrome 7
High palate, Clinodactyly, Dilated cardiomyopathy, Single transverse palmar crease, Partial dupli... OMIM:618348
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
Nanophthalmos
Microphthalmia ORPHA:35612
Mcdonough Syndrome
Clinodactyly, Short philtrum, Single transverse palmar crease, Atrial septal defect, Pulmonic ste... OMIM:248950
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Slender finger, Single transverse palmar crease, Patent foramen ovale, Atrial septal defect, Clin... ORPHA:329224
Iniencephaly
Narrow mouth, Myelomeningocele, Rocker bottom foot, Rhizomelia, Anencephaly, Anal atresia, Spinal... ORPHA:63259
Neu-Laxova Syndrome 1
Clinodactyly, Micromelia, Spina bifida, Ventricular septal defect, Cleft palate, Cleft upper lip,... OMIM:256520
Nail-Patella Syndrome
Iliac horns, Disproportionate prominence of the femoral medial condyle, Absent distal interphalan... OMIM:161200
Congenital Varicella Syndrome
Micromelia, Microphthalmia ORPHA:291
Pallister-Hall Syndrome
Ventricular septal defect, Distal shortening of limbs, Mesoaxial foot polydactyly, Cleft palate, ... OMIM:146510
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Atrial septal defect, Hand polydactyly, Arachnodactyly, Ventricular septal d... ORPHA:261243
Microphthalmia, Syndromic 11
Microphthalmia, Cleft upper lip, Cleft palate OMIM:614402
Congenital Toxoplasmosis
Microphthalmia, Cardiomegaly, Hydrocephalus ORPHA:858
Desbuquois Syndrome
Coxa valga, Clinodactyly of the 5th finger, Elbow dislocation, Radioulnar synostosis, Abnormality... ORPHA:1425
Trisomy 8Q
Brachydactyly, High palate, Myelomeningocele, Non-midline cleft lip, Everted lower lip vermilion,... ORPHA:1752
Temtamy Preaxial Brachydactyly Syndrome
Brachydactyly, Clinodactyly, Carpal synostosis, Short metacarpal, Microdontia, Deep philtrum, Sho... OMIM:605282
Genitopalatocardiac Syndrome
Cleft upper lip, Double outlet right ventricle, Ventricular septal defect, Transposition of the g... OMIM:231060
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Total anomalous pulmonary venous return, Fibular hypoplasia, Mesomelic leg shortening, Hypoplasti... OMIM:609945
Holt-Oram Syndrome
Absent thumb, Small thenar eminence, Hypoplasia of the ulna, Phocomelia, Absent radius, Triphalan... OMIM:142900
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Duode... ORPHA:2547
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, High palate, Toe syndactyly, Foot polydactyly, Long philtrum, Clinodactyly ... ORPHA:250989
Adams-Oliver Syndrome 1
Brachydactyly, Toe syndactyly, Tetralogy of Fallot, Cleft upper lip, Atrial septal defect, Pulmon... OMIM:100300
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Long toe, Cutaneous syndactyly, Atrial septal defect, ... OMIM:618316
Apert Syndrome
Bifid uvula, Rhizomelic arm shortening, Ventricular septal defect, Cleft palate, Overriding aorta... OMIM:101200
Hadziselimovic Syndrome
High palate, Tetralogy of Fallot, Atrial septal defect, U-Shaped upper lip vermilion, Thick lower... OMIM:612946
3Mc Syndrome 3
Clinodactyly, Cleft upper lip, Preaxial polydactyly, Radioulnar synostosis, Cleft palate OMIM:248340
Orofaciodigital Syndrome X
Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia, Cleft... OMIM:165590
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Rectal prolapse, Hypoplastic iliac wing, Ventricular septal defect, ... OMIM:235510
Trigonocephaly With Short Stature And Developmental Delay
Broad alveolar ridges, High palate, Clinodactyly of the 5th finger, Ventricular septal defect OMIM:314320
Ring Chromosome 10 Syndrome
Long philtrum, Sandal gap, Tapered finger, Aganglionic megacolon, Microphthalmia, Thin vermilion ... ORPHA:1438
Chromosome 6Pter-P24 Deletion Syndrome
Narrow mouth, High palate, Tetralogy of Fallot, Broad toe, Cleft upper lip, Patent foramen ovale,... OMIM:612582
Fanconi Anemia, Complementation Group S
Clinodactyly, Thick upper lip vermilion, Microphthalmia, Proximal placement of thumb, Macrodontia... OMIM:617883
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Conical tooth, Microphthalmia, Broad philtrum, Abnormality of the dentition, Encephalocele ORPHA:228390
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Brachydactyly, Tetralogy of Fallot, Single transverse palmar crease, 2-3 toe syndactyly, Short fe... OMIM:614701
Roifman Syndrome
Brachydactyly, Single transverse palmar crease, Long philtrum, Short metacarpal, Clinodactyly of ... OMIM:616651
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Long philtrum, Clinodactyly of the 5th finger, Everted lower li... OMIM:608670
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Bowing of the long bones, Anophthalmia, Postaxial foot polydact... ORPHA:564
Yunis-Varon Syndrome
Abnormal pelvis bone morphology, Abnormality of dental structure, Tapered finger, High, narrow pa... ORPHA:3472
Developmental Delay With Variable Neurologic And Brain Abnormalities
Widely spaced teeth, Microdontia, Down-sloping shoulders, Microphthalmia, Cubitus valgus, Camptod... OMIM:619694
Joubert Syndrome 22
Microphthalmia, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe syndactyly OMIM:615665
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Cat-Eye Syndrome
Microphthalmia, Hip dysplasia, Anal atresia ORPHA:195
Pai Syndrome
Bifid uvula, Encephalocele, Abnormal oral frenulum morphology, Cleft palate, Median cleft lip ORPHA:1993
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Frontofacionasal Dysplasia
Microphthalmia, Cleft palate, Encephalocele, Non-midline cleft lip ORPHA:1791
Vacterl With Hydrocephalus
Anophthalmia, Tracheoesophageal fistula, Hypoplasia of the radius, Anal atresia, Esophageal atres... ORPHA:3412
Heart And Brain Malformation Syndrome
Gastroesophageal reflux, Everted lower lip vermilion, Thick lower lip vermilion, High, narrow pal... OMIM:616920
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal hip bone morphology, Sandal gap, Clinodactyly of the 5... ORPHA:193
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metacarpal synostosis, Metatar... OMIM:608180
16P13.11 Microdeletion Syndrome
Cleft upper lip, Metatarsus valgus, Thin upper lip vermilion, Atrial septal defect, Gastroesophag... ORPHA:261236
Multiple Epiphyseal Dysplasia Type 4
Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Delayed femoral head os... ORPHA:93307
Chiari Malformation Type Ii
Myelomeningocele, Spina bifida, Dysphagia, Hydrocephalus, Cervical myelopathy OMIM:207950
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos, Hip dislocation OMIM:608763
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Spina bifida, Ventricular septal d... OMIM:274000
Warburg Micro Syndrome 1
Microphthalmia, Thin vermilion border, Overlapping toe, Narrow mouth OMIM:600118
Ventricular Septal Defect 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614429
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Bifid uvula, Atrial septal defect, Spinal dysraphism, Hypoplastic left heart, Mitral stenosis, Ao... OMIM:617660
Fanconi Anemia, Complementation Group G
Microphthalmia, Abnormal thumb morphology OMIM:614082
Cerebrooculofacioskeletal Syndrome 4
Short philtrum, Dislocated radial head, Rocker bottom foot, Steep acetabular roof, Flared metaphy... OMIM:610758
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Broad secondary alveolar ridge, High palate, Fifth finger distal phalanx clinodactyly, Ventricula... ORPHA:3369
Hydrolethalus Syndrome 1
Complete atrioventricular canal defect, Arrhinencephaly, Upper limb undergrowth, Anencephaly, Dup... OMIM:236680
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Abnormality of the dentition, Atrial septal defect, Clinodactyly of the 5th ... OMIM:179613
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Left ventricular hypertrophy, Hydrocephalus OMIM:613153
Otodental Syndrome
Long philtrum, Gingival overgrowth, Pulp calcification, Delayed eruption of teeth, Abnormal denta... ORPHA:2791
Pfeiffer Syndrome Type 2
Broad hallux phalanx, High palate, Toe syndactyly, Finger syndactyly, Intestinal malrotation, Dev... ORPHA:93259
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Acrocardiofacial Syndrome
Toe syndactyly, Tetralogy of Fallot, Foot polydactyly, Finger syndactyly, Cleft upper lip, Atrial... ORPHA:2008
Microcephaly-Micromelia Syndrome
Narrow mouth, Absent radius, Oligodactyly, Abnormality of the hand, Micromelia, Microphthalmia, S... OMIM:251230
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Clinodactyly of the 5th finger, Ventricular septal defect, Downturned corne... OMIM:618974
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hypoplasia of the ulna, Absent radius, Aplasia/Hypoplasia of the thumb, Clinodactyly of the 5th f... ORPHA:1352
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Ventricular septal defect OMIM:614947
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Flat capital femoral epiphysis, High palate, Wide capital femoral epiphyses, Patellar hypoplasia,... OMIM:147891
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal hip bone morphology, Tetralogy of Fallot, Tooth agenesis, Ventricular septal defect, Abn... ORPHA:1166
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Hypoplastic left heart, Ventricular septal defect, Atrioventricular canal de... OMIM:615779
Meckel Syndrome, Type 1
Bowing of the long bones, Clinodactyly, Foot polydactyly, Postaxial foot polydactyly, Cleft upper... OMIM:249000
Insulin-Like Growth Factor I, Resistance To
Narrow mouth, High palate, Clinodactyly, Patent foramen ovale, Long philtrum, Atrial septal defec... OMIM:270450
Orofaciodigital Syndrome I
Clinodactyly, Hamartoma of tongue, Cleft palate, Brachydactyly, High palate, Cleft upper lip, Ena... OMIM:311200
Distal 22Q11.2 Microdeletion Syndrome
Sandal gap, Clinodactyly of the 5th finger, High, narrow palate, Ventricular septal defect, Thin ... ORPHA:261330
Chromosome 3Pter-P25 Deletion Syndrome
High palate, Long philtrum, Atrioventricular canal defect, Tapered finger, Postaxial polydactyly,... OMIM:613792
Silver-Russell Syndrome Due To A Point Mutation
Clinodactyly of the 5th finger, Short 5th finger, Polydactyly, Ectrodactyly, Small placenta, Clef... ORPHA:397590
Li-Campeau Syndrome
Single transverse palmar crease, Patent foramen ovale, Patellar hypoplasia, Long philtrum, Gastro... OMIM:619189
Basel-Vanagaite-Smirin-Yosef Syndrome
Clinodactyly, Short philtrum, Single transverse palmar crease, 2-3 toe syndactyly, Finger syndact... ORPHA:464738
Limb-Mammary Syndrome
Bifid uvula, Hypodontia, Syndactyly, Cleft palate, Hallux valgus, Camptodactyly, Split hand, Spli... OMIM:603543
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Advanced ossification of carpal bones, Short long bone, Metaphyseal wid... OMIM:224400
Cat Eye Syndrome
Total anomalous pulmonary venous return, Absent radius, Intestinal malrotation, Anal atresia, Mic... OMIM:115470
Fryns Syndrome
High palate, Ectopic anus, Tetralogy of Fallot, Long philtrum, Non-midline cleft lip, Intestinal ... ORPHA:2059
Martsolf Syndrome 1
High palate, Short philtrum, Short palm, Short metacarpal, Broad fingertip, Short phalanx of fing... OMIM:212720
Subaortic Stenosis--Short Stature Syndrome
Narrow mouth, Broad toe, Short upper lip, Short palm, Subvalvular aortic stenosis, Short phalanx ... OMIM:271960
Mckusick-Kaufman Syndrome
Brachydactyly, Ectopic anus, High palate, Tetralogy of Fallot, Finger syndactyly, Postaxial foot ... ORPHA:2473
Intellectual Developmental Disorder, Autosomal Dominant 23
Long philtrum, Drooling, Sandal gap, Broad distal phalanx of finger, Dental crowding, Smooth phil... OMIM:615761
Joubert Syndrome 7
Postaxial hand polydactyly, Encephalocele, Postaxial polydactyly OMIM:611560
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Long philtrum, Duplication of phalanx of hand, Clinodactyly of the 5th finger, Optic nerve hypopl... ORPHA:508498
Bardet-Biedl Syndrome 17
Brachydactyly, Mesoaxial polydactyly, Postaxial foot polydactyly, Dextrocardia, Situs inversus to... OMIM:615994
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Thin upper lip vermilion, Cutaneous syndactyly, Microd... OMIM:601005
Orofaciodigital Syndrome Xv
Lobulated tongue, Broad hallux, Postaxial polydactyly OMIM:617127
Adams-Oliver Syndrome 6
Brachydactyly, Esophageal varix, Foot oligodactyly, Ventricular septal defect, Truncus arteriosus... OMIM:616589
Waardenburg Syndrome Type 1
Cleft upper lip, Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Meningocele, Cl... ORPHA:894
Microcephaly-Capillary Malformation Syndrome
Brachydactyly, Clinodactyly, Patent foramen ovale, Atrial septal defect, Short distal phalanx of ... OMIM:614261
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Short distal phalanx of finger, Ventricular septal defect, Truncus arteriosu... ORPHA:2516
Seckel Syndrome 2
Microglossia, Clinodactyly of the 5th finger, Microphthalmia, Microdontia OMIM:606744
Joubert Syndrome 10
Thick vermilion border, Deep philtrum, Postaxial polydactyly OMIM:300804
Hyperphosphatasia With Mental Retardation Syndrome 1
Short philtrum, Delayed ossification of carpal bones, Cleft upper lip, Abnormally large globe, Ta... OMIM:239300
Amish Lethal Microcephaly
Cleft soft palate, Spina bifida ORPHA:99742
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Subvalvular aortic stenosis, Microdontia, Microphthalmia, Membranous ... ORPHA:3191
Trisomy 20P
Brachydactyly, Ectopic anus, Abnormal hip bone morphology, Short philtrum, Finger syndactyly, Abn... ORPHA:261318
Meckel Syndrome, Type 6
Cleft upper lip, Postaxial foot polydactyly, Occipital encephalocele, Anencephaly, Postaxial hand... OMIM:612284
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Congenital Rubella Syndrome
Atrial septal defect, Microphthalmia, Aplasia/Hypoplasia of the iris, Abnormality of the metaphys... ORPHA:290
Oculodentodigital Dysplasia
Clinodactyly, Clinodactyly of the 5th finger, Ventricular septal defect, Cleft palate, Brachydact... ORPHA:2710
Short-Rib Thoracic Dysplasia 12
Broad palm, Hamartoma of tongue, Ventricular septal defect, Median cleft lip and palate, Short to... OMIM:269860
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
High palate, Long philtrum, Gingival overgrowth, Atrial septal defect, Clinodactyly of the 5th fi... OMIM:220500
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus OMIM:601794
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Atrial septal defect, Gastroesophageal reflux, Dental crowding, Ventricular septal... OMIM:619769
Microphthalmia With Brain And Digit Anomalies
High palate, Anophthalmia, Finger syndactyly, Postaxial foot polydactyly, Microphthalmia, Proxima... ORPHA:139471
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Tetralogy of Fallot, Hypoplasia of the ulna, Foot polydactyly, Phocomelia, Apla... ORPHA:3186
Oculodentodigital Dysplasia, Autosomal Recessive
Narrow mouth, 2-4 toe cutaneous syndactyly, Long philtrum, Delayed eruption of teeth, 4-5 finger ... OMIM:257850
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
High palate, Coxa valga, 2-3 toe syndactyly, Rhizomelia, Broad femoral neck, Ventricular septal d... OMIM:617164
Mend Syndrome
High palate, 2-3 toe syndactyly, Overlapping fingers, Asymmetry of the mouth, Hand polydactyly, B... ORPHA:401973
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Autosomal Recessive Robinow Syndrome
Abnormal hip bone morphology, Long philtrum, Open bite, Sandal gap, Clinodactyly of the 5th finge... ORPHA:1507
C Syndrome
Accessory oral frenulum, High palate, Clinodactyly, Toe syndactyly, Postaxial foot polydactyly, T... OMIM:211750
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Duplication of phalanx of hallux, Preaxial hand polydactyly, Ventricular se... OMIM:263630
Oculodentodigital Dysplasia
Broad alveolar ridges, Clinodactyly, Cleft upper lip, Enamel hypoplasia, Atrial septal defect, 4-... OMIM:164200
Cooper-Jabs Syndrome
Abnormal hip bone morphology, Proximal placement of thumb, Ventricular septal defect, Umbilical h... ORPHA:1488
Baraitser-Winter Syndrome 1
Cleft upper lip, Long philtrum, Duplication of phalanx of hallux, Microphthalmia, Bicuspid aortic... OMIM:243310
Cerebrooculonasal Syndrome
High palate, Anophthalmia, Solitary median maxillary central incisor, U-Shaped upper lip vermilio... OMIM:605627
Mycophenolate Mofetil Embryopathy
Foot polydactyly, Short palm, Tracheoesophageal fistula, Microphthalmia, Ventricular septal defec... ORPHA:268249
Inverted Duplicated Chromosome 15 Syndrome
Brachydactyly, High palate, Tetralogy of Fallot, Short philtrum, 2-3 toe syndactyly, Drooling, Cl... ORPHA:3306
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Fibular hypoplasia, Clinodactyly of the 5th finger, Ventricular septal defect, Cleft... OMIM:300373
Fryns Syndrome
Long philtrum, Tented upper lip vermilion, Short thumb, Ventricular septal defect, Cleft palate, ... OMIM:229850
Syngap1-Related Developmental And Epileptic Encephalopathy
Narrow mouth, High palate, Abnormal tongue physiology, Postaxial polydactyly, Thin vermilion bord... ORPHA:544254
Cardiofacioneurodevelopmental Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Pulmonic stenosis, Cleft lip, Abdominal situs inve... OMIM:619123
Skin Creases, Congenital Symmetric Circumferential, 2
Narrow mouth, Short palm, Tapered finger, Microdontia, Carious teeth, Microphthalmia, Long finger... OMIM:616734
Woods Syndrome
Single transverse palmar crease, 3-4 finger cutaneous syndactyly, Limited elbow extension, Ventri... OMIM:615236
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Septo-optic dysplasia, Median cleft palate, Patent foramen ovale, So... OMIM:301043
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia, Hydrocephalus OMIM:615181
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Ventricular septal defect, Truncus arteriosus, Mesomelia, Syndactyly OMIM:228940
Baraitser-Winter Syndrome 2
Long philtrum, Microphthalmia, Oral cleft, Thin upper lip vermilion, Wide mouth OMIM:614583
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Bilateral talipes equinovarus, Median cleft palate, Patellar hypoplasia, Absent tibia, Talipes eq... OMIM:119800
Microphthalmia, Syndromic 13
Microphthalmia, Diastema OMIM:300915
Bardet-Biedl Syndrome 8
Situs inversus totalis, Polydactyly OMIM:615985
Mandibulofacial Dysostosis, Guion-Almeida Type
Slender finger, Atrial septal defect, Deep philtrum, Esophageal atresia, Preaxial hand polydactyl... OMIM:610536
Distal Monosomy 19P13.3
Short philtrum, Long toe, Tricuspid valve prolapse, Arachnodactyly, Pulmonary valve atresia, Vent... ORPHA:96129
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Clinodactyly, Enamel hypoplasia, Conical tooth, Sandal gap, Oligodontia, 3-4 toe s... OMIM:618727
Acro-Renal-Ocular Syndrome
Broad hallux phalanx, Toe syndactyly, Tetralogy of Fallot, Abnormal thumb morphology, Finger synd... ORPHA:959
Fanconi Anemia
Abnormal thumb morphology, Abnormality of the ulna, Clinodactyly of the 5th finger, Abnormal aort... ORPHA:84
Microphthalmia, Syndromic 2
Bifid uvula, Long philtrum, Hammertoe, Sandal gap, Radiculomegaly, Dextrocardia, Double outlet ri... OMIM:300166
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Hypoplasia of right ventricle, Ven... ORPHA:1209
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Brachydactyly, High palate, Short philtrum, Single transverse palmar crease, 2-3 toe syndactyly, ... OMIM:617061
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Optic nerve hypoplasia, Macroglossia, Microphthalmia, Cardiomyopathy, Hy... ORPHA:370959
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Bilateral cleft lip and palate ORPHA:1473
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
3Mc Syndrome 1
Cleft upper lip, Atrial septal defect, Clinodactyly of the 5th finger, Caudal appendage, Short 5t... OMIM:257920
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormal hip bone morphology, Long philtrum, Clinodactyly of the 5th finger, Microdontia, Ventric... ORPHA:251028
Emanuel Syndrome
High palate, Ectopic anus, Bifid uvula, Truncus arteriosus, Long philtrum, Submucous cleft lip, D... ORPHA:96170
Holoprosencephaly-Caudal Dysgenesis Syndrome
Radial club hand, Abnormality of the radius, Holoprosencephaly, Cleft palate, Median cleft lip ORPHA:2165
Bardet-Biedl Syndrome 9
Brachydactyly, Postaxial foot polydactyly, Polydactyly, Postaxial hand polydactyly, Postaxial pol... OMIM:615986
Phocomelia, Schinzel Type
Bowing of the long bones, Hand oligodactyly, Aplasia/Hypoplasia involving the pelvis, Tracheoesop... ORPHA:2879
Fetal Alcohol Syndrome
Non-midline cleft lip, Atrial septal defect, Microdontia, Microphthalmia, Smooth philtrum, Thin u... ORPHA:1915
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Opitz-Kaveggia Syndrome
Clinodactyly, Long philtrum, Joint contracture of the hand, Cleft palate, Single transverse palma... OMIM:305450
Intellectual Developmental Disorder, Autosomal Dominant 36
Hydrocephalus, Open mouth, Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Devia... OMIM:616362
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Hypoplasia of the ulna, Atrioventricular canal... OMIM:619135
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Holoprosencephaly
Intestinal atresia, Median cleft lip and palate, Ventricular septal defect, Encephalocele, Brachy... ORPHA:2162
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Brachydactyly, Disproportionate shortening of the tibia, Atrial septal defect, Intestinal malrota... OMIM:263520
Ulnar-Mammary Syndrome
Ectopic anus, Abnormal metacarpal morphology, Hypodontia, Anal atresia, Abnormality of the radius... ORPHA:3138
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Brachydactyly, Finger joint hypermobility, Scapular winging, Patent foramen ovale, Single transve... OMIM:618870
Retinitis Pigmentosa 89
Esophageal varix, Bicuspid aortic valve, Postaxial polydactyly OMIM:618955
Townes-Brocks Syndrome 1
2-4 finger syndactyly, Ventricular septal defect, Broad thumb, Rectovaginal fistula, Pseudoepiphy... OMIM:107480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Cleft upper lip, Macroglossia, Microphthalmia, Buphthalmos, Cleft palate, Encephal... OMIM:613150
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Long philtrum, Deep philtrum, Cleft lip, Microphthalmia, Abnormal heart morphology, Cleft palate,... OMIM:618571
Noonan Syndrome 12
Anteriorly placed anus, Proximal placement of thumb, Ventricular septal defect, Tetralogy of Fallot OMIM:618624
Focal Dermal Hypoplasia
Foot polydactyly, Cleft palate, Brachydactyly, Anophthalmia, Cleft upper lip, Hand oligodactyly, ... OMIM:305600
Tarp Syndrome
Tongue nodules, High palate, Tetralogy of Fallot, Clinodactyly, Single transverse palmar crease, ... OMIM:311900
Campomelic Dysplasia
Narrow iliac wing, Long philtrum, Fibular hypoplasia, Hypoplastic iliac wing, Spina bifida, Hallu... OMIM:114290
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Widely spaced teeth, Microdontia, Hypoplasia of teeth, Microphthalmia, Clef... ORPHA:2728
Congenital Fibrinogen Deficiency
Gingival bleeding, Microphthalmia, Volvulus, Right ventricular hypertrophy, Clubbing of fingers, ... ORPHA:335
Duane Retraction Syndrome
Brachydactyly, Absent radius, Aplasia/Hypoplasia of the thumb, Triphalangeal thumb, Everted lower... ORPHA:233
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Narrow mouth, Clinodactyly, Short philtrum, Atrial septal defect, Ventricular septal defect, Thin... OMIM:617360
3Q29 Microdeletion Syndrome
High palate, Short philtrum, Subvalvular aortic stenosis, Clinodactyly of the 5th finger, Gastroe... ORPHA:65286
Congenital Sialidosis Type 2
Protruding tongue, Hypoplasia of the fovea, Polydactyly, Abnormal heart morphology, Hydrocephalus... ORPHA:93400
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Cleft Lip/Palate
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... ORPHA:199306
Delpire-Mcneill Syndrome
Hip dislocation, Tracheoesophageal fistula, Dysphagia, Ventricular septal defect OMIM:619083
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Cleft palate, Ventricular septal defect OMIM:214300
Spondylo-Ocular Syndrome
Long philtrum, Aplasia/Hypoplasia of the lens, Microphthalmia, Ventricular septal defect, Thin ve... ORPHA:85194
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos, Bicuspid aortic valve, Anal atresia OMIM:619318
Constricting Bands, Congenital
Cleft upper lip, Ectopia cordis, Hand polydactyly, Talipes equinovarus, Cleft palate, Encephaloce... OMIM:217100
Walker-Warburg Syndrome
Bifid uvula, Anophthalmia, Metatarsus valgus, Submucous cleft hard palate, Microphthalmia, Hydroc... ORPHA:899
Multiple Benign Circumferential Skin Creases On Limbs
Upper limb asymmetry, Long philtrum, Microphthalmia, Umbilical hernia, Cleft palate ORPHA:2505
Holoprosencephaly 9
Short philtrum, Dental malocclusion, Anophthalmia, Cleft upper lip, Solitary median maxillary cen... OMIM:610829
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, High palate, Tented upper lip vermilion, Long philtrum OMIM:614105
Ellis Van Creveld Syndrome
Foot polydactyly, Microdontia, Dextrocardia, Micromelia, Ventricular septal defect, Atrioventricu... ORPHA:289
Fanconi Anemia, Complementation Group B
Absent thumb, Bilateral radial aplasia, Tracheoesophageal fistula, Esophageal atresia, Optic disc... OMIM:300514