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
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasi... ORPHA:2476
Gombo Syndrome
Abnormal heart morphology, Radial deviation of finger, Microphthalmia, Clinodactyly, Brachydactyly OMIM:233270
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias... OMIM:617927
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta ORPHA:64754
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus, Preaxial polydactyly ORPHA:141333
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia, Bilateral cleft lip and palate OMIM:600776
Adams-Oliver Syndrome 4
Ventricular septal defect, Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle... OMIM:615297
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Cleft palate, Abnormal heart morphology, Upper limb phocomelia, Abnormal cardiac sept... ORPHA:294975
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,... ORPHA:957
Mmep Syndrome
Median cleft lip, Ventricular septal defect, Cryptorchidism, Orofacial cleft, Split foot, Triphal... ORPHA:3434
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... OMIM:611561
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... OMIM:603194
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Ventricular septal defect, Hydrocephalus, Meningocele, A... OMIM:611134
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Hydrolethalus Syndrome 2
Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foot polydactyly,... OMIM:614120
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small hypothenar eminence, Spina bifida, Mitral valve prolapse, Dermatoglyphic ridges abnormal, S... OMIM:211960
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Polydactyly, Preaxial I
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... OMIM:174400
Pierre Robin Sequence With Facial And Digital Anomalies
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... OMIM:311895
Acalvaria
Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Holoprosencephaly ORPHA:945
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Pericardial effusion, Clef... OMIM:613885
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Anencephaly 2
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate OMIM:619452
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Microphthalmia OMIM:611638
Frontonasal Dysplasia 1
Median cleft lip, Postaxial hand polydactyly, Anterior basal encephalocele, Widely-spaced maxilla... OMIM:136760
Hartsfield Syndrome
Encephalocele, Non-midline cleft lip, Split hand, Cleft palate, Lobar holoprosencephaly, Aplasia/... ORPHA:2117
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... OMIM:186350
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Ventricular septal defect, Preax... OMIM:618142
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Encephalocele, Synostosis... ORPHA:90652
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Hydrocephalus... ORPHA:380
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Cubitus valgus, Humeroradial synost... OMIM:612961
Feingold Syndrome 2
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl... OMIM:614326
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Cleft soft palate,... ORPHA:2756
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Meningocele, Abnormality o... ORPHA:3265
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Cleft palate, Hydranencephaly, Truncus arteriosus, Short distal phalan... OMIM:601355
Feingold Syndrome Type 2
Toe syndactyly, Ventricular septal defect, Jejunal atresia, Short thumb, Short middle phalanx of ... ORPHA:391646
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial se... OMIM:607323
Diprosopus
Non-midline cleft lip, Abnormal cardiac septum morphology, Anencephaly, Cleft palate ORPHA:1681
2Q24 Microdeletion Syndrome
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... ORPHA:1617
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Schisis Association
Encephalocele, Spina bifida, Micromelia, Anencephaly, Tracheoesophageal fistula, Cleft palate, Un... ORPHA:63862
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Cryptorchidism, Preaxial hand polydactyly, Orofacial cleft, Large hands, Decreas... ORPHA:85287
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Radi... ORPHA:1388
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Encephalocele,... OMIM:616300
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele, Hydrocephalus, Orofacial cleft ORPHA:324416
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Camptodactyly of finger, Intestinal malrotation, Meningocele, Duodenal stenosis, Ab... ORPHA:1759
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Ventricular septal defect, Pos... OMIM:614815
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Oculocerebrocutaneous Syndrome
Anophthalmia, Congenital hip dislocation, Cryptorchidism, Orbital encephalocele, Cleft palate, Mi... OMIM:164180
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Microphthalmia, Rocker bottom foot, Cleft palate OMIM:616570
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Micromelia, Postaxial polydactyl... OMIM:617866
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Ventricular septal defect, Narrow mouth, Atrial septal defect,... ORPHA:3469
Arthrogryposis, Distal, Type 1C
Pursed lips, Hip contracture, Rocker bottom foot, Camptodactyly of finger, Shoulder flexion contr... OMIM:619110
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect, Cryptorchidism ORPHA:1918
Isolated Dandy-Walker Malformation
Encephalocele, Tetralogy of Fallot, Cleft palate ORPHA:217
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal de... OMIM:235750
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... OMIM:147750
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Hypoplastic left... OMIM:615524
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Mic... ORPHA:1908
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Cleft upper ... OMIM:601357
Hydrolethalus
Anophthalmia, Micromelia, Cryptorchidism, Hydrocephalus, Postaxial hand polydactyly, Anencephaly,... ORPHA:2189
Anophthalmia Plus Syndrome
Anophthalmia, Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, ... ORPHA:1104
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micromelia, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Hydrocephalus, A... OMIM:616546
Biemond Syndrome Ii
Preaxial hand polydactyly, Hydrocephalus OMIM:210350
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Cleft uppe... OMIM:613091
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Ventricular septal defect, Hydrocephalus, Polydactyly, Microphthalmia, Smooth philtrum OMIM:602501
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Hydrocephalus,... OMIM:175700
Endocrine-Cerebroosteodysplasia
Single transverse palmar crease, Micromelia, Preaxial polydactyly, Tibial bowing, Holoprosencepha... OMIM:612651
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Postaxial foot ... OMIM:607361
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... ORPHA:2712
Facial Clefting, Oblique, 1
Microphthalmia, Deep palmar crease, Cleft palate, Cleft upper lip OMIM:600251
Mohr Syndrome
Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Accessory ... OMIM:252100
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida, Cleft palate, Abnormal shoulder morphology, Ectopic anus... ORPHA:2345
Microphthalmia, Syndromic 8
Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spaced maxillary central i... OMIM:601349
Microphthalmia, Isolated 4
Microphthalmia, Absent testis, Postaxial polydactyly OMIM:613094
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... ORPHA:3104
Microphthalmia With Limb Anomalies
Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibia... OMIM:206920
Curry-Jones Syndrome
Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Duplication of thumb phalanx... OMIM:601707
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Bilateral single transverse palmar creases, Proximal placement of thumb, S... ORPHA:1120
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Ventricular septal defect, Exaggerated cupid's bow, Narrow mouth, Deep philtrum, ... ORPHA:261120
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... ORPHA:93320
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Median cleft palate ORPHA:2432
Craniotelencephalic Dysplasia
Microphthalmia, Hydrocephalus, Frontal encephalocele, Septo-optic dysplasia ORPHA:1528
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... OMIM:183600
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Bilateral cryptorchidism, Central Y-shape... ORPHA:2754
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Hydrocephalus, Postaxial hand polydactyly, Abnormal cardiac septum mor... ORPHA:83473
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Hand polydactyly, Everted lower lip vermilion, Pulmonic stenosis, Atri... OMIM:249670
Acromelic Frontonasal Dysostosis
Encephalocele, Syndactyly, Optic nerve hypoplasia, Cleft upper lip, Cryptorchidism, Preaxial poly... OMIM:603671
Meckel Syndrome, Type 10
Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd... OMIM:614175
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Blepharocheilodontic Syndrome 1
Conical tooth, Cleft upper lip, Cutaneous syndactyly, Neural tube defect, Hypodontia, Clinodactyl... OMIM:119580
Nanophthalmos 2
Microphthalmia OMIM:609549
Triploidy
Finger syndactyly, Intestinal malrotation, Cryptorchidism, Hydrocephalus, Meningocele, Non-midlin... ORPHA:3376
Czeizel-Losonci Syndrome
Hitchhiker thumb, Dextrocardia, Spina bifida, Single transverse palmar crease, Myelomeningocele, ... ORPHA:2437
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Rhizomelia, Abnormality of the humerus, Preaxial hand polydactyly, Abnormality of ... ORPHA:3098
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger, Brachydac... ORPHA:1937
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Preaxial hand polydactyly, Thin upper lip vermilion, Interphalangeal joint contracture of finger,... OMIM:606242
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia OMIM:218670
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Optic nerve hypoplasia, Cleft upper lip, High, narrow palat... OMIM:607597
Pelvis-Shoulder Dysplasia
Syndactyly, Camptodactyly of finger, Spina bifida, Aplasia/Hypoplasia of the fibula, Mesomelic/rh... ORPHA:2839
Stromme Syndrome
Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Hydrocephalus, Preaxial polydact... OMIM:243605
3P25.3 Microdeletion Syndrome
Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fin... ORPHA:435638
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Orofaciodigital Syndrome Vi
Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper lip, Hamartoma... OMIM:277170
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le... OMIM:249710
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Anteriorly plac... OMIM:619148
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate, Atrial septal defect,... ORPHA:261272
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Aase-Smith Syndrome I
Ventricular septal defect, Hydrocephalus, Cleft palate, Talipes equinovarus, Open mouth, Slender ... OMIM:147800
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypopl... ORPHA:94066
Holzgreve Syndrome
Hand polydactyly, Hypoplastic left heart, Cleft palate, Cleft upper lip OMIM:236110
Congenital Vertical Talus
Myelomeningocele, Rocker bottom foot, Equinus calcaneus ORPHA:178382
Isolated Hemihyperplasia
Cryptorchidism, Myelomeningocele, Abnormality of the dentition ORPHA:2128
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Abnormalit... ORPHA:2378
Sonoda Syndrome
High axial triradius, Ventricular septal defect, Narrow mouth OMIM:270460
Pierpont Syndrome
Thin upper lip vermilion, Cryptorchidism, Short toe, Broad philtrum, Deep palmar crease, Thin ver... ORPHA:487825
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Sandal gap, High, narrow palate, Dilated cardiomyopathy, Clinodactyly ... ORPHA:2515
Pierpont Syndrome
Cryptorchidism, Short toe, Broad palm, Short foot, Broad philtrum, Prominent median palatal raphe... OMIM:602342
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Postaxial polydactyl... ORPHA:404440
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Diaphanospondylodysostosis
Narrow pelvis bone, Myelomeningocele, Cleft palate ORPHA:66637
Carpenter Syndrome
Finger syndactyly, Syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Preaxi... ORPHA:65759
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Postaxial polydactyly, Hydr... OMIM:614424
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, High palate, Atrial septal defect, Clinodactyl... OMIM:201000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect, Cleft lip, Cleft palate, Narrow mouth, Broad philtrum ORPHA:398156
Parietal Foramina 1
Encephalocele, Cleft palate, Cleft upper lip OMIM:168500
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Cleft upper lip, Complete atrioventricula... OMIM:264480
Enlarged Parietal Foramina
Occipital encephalocele, Cleft lip, Myelomeningocele, Cleft palate, Short clavicles, Broad thumb ORPHA:60015
Fibular Hemimelia
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... ORPHA:93323
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Brachydactyly, Toe syndactyly, Scapular winging, Camptodactyly of finger, Spina bi... ORPHA:1327
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... DECIPHER:46
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Clinodactyly of ... ORPHA:1106
Bardet-Biedl Syndrome 7
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly OMIM:615984
Trisomy 4P
Smooth philtrum, Camptodactyly of finger, Abnormality of the dentition, Carious teeth, Preaxial h... ORPHA:1738
Moebius Syndrome
Decreased testicular size, Syndactyly, Brachydactyly, Abnormality of the dentition, Clinodactyly,... OMIM:157900
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Ventricular septal defect, Clef... OMIM:612530
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ... OMIM:614262
Orofaciodigital Syndrome Viii
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia OMIM:300484
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Rhizomelia, Ventricular septal defect, Proximal placement of thumb, Dow... ORPHA:93267
Lambotte Syndrome
Preaxial foot polydactyly, Ventricular septal defect, Narrow mouth, Semilobar holoprosencephaly OMIM:245552
Nemaline Myopathy 9
High palate, Ventricular septal defect, Cleft palate OMIM:615731
Cranioacrofacial Syndrome
Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Atrial septal defect, Thin upper lip vermilion, Overlapping fingers, Overlapping toe, Ventricular... OMIM:618494
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Hydrocephalus, Abnormality of t... ORPHA:163966
Cousin Syndrome
Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio... OMIM:260660
Pentalogy Of Cantrell
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Hydrocephalus, Split h... ORPHA:1335
Brachydactyly-Preaxial Hallux Varus Syndrome
Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Broad thumb, Abn... ORPHA:1278
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, High palate, Narrow mouth ORPHA:2528
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Bifid u... OMIM:200990
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of the dentition, Upper limb undergrowth, Gingival overgro... OMIM:169400
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cleft palate, Cleft upper lip OMIM:120433
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Ventricular septal defect, ... OMIM:600987
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... OMIM:169550
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Sirenomelia
Spina bifida, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia of the radius, Anal atresia ORPHA:3169
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Non-midline cleft lip, Meningocele, Hip dislocation, Bilateral cleft lip and palate, Tooth agenesis ORPHA:2003
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, Complete atriov... OMIM:617925
Braddock-Carey Syndrome 2
Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly OMIM:619981
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... OMIM:616898
Intellectual Developmental Disorder, Autosomal Recessive 79
Thin upper lip vermilion, Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of ... OMIM:620393
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid stern... ORPHA:63260
Pallister-Hall-Like Syndrome
Occipital encephalocele, Toe syndactyly, Median cleft lip, Micromelia, Hydrocephalus, Postaxial h... OMIM:241800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus OMIM:614830
Vater/Vacterl Association
Occipital encephalocele, Syndactyly, Ventricular septal defect, Spina bifida, Absent radius, Shor... OMIM:192350
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Narrow femoral neck, Congenital hip dislocation, Long proximal phalanx of finger, Delayed phalang... OMIM:603546
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Non-midline cleft lip, Orofacial clef... ORPHA:2549
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Preaxial polydactyly, Femoral bowin... OMIM:615503
Lissencephaly 8
Microphthalmia, Occipital encephalocele, Talipes equinovarus OMIM:617255
Orofaciodigital Syndrome Xi
Cleft palate, Gastroesophageal reflux, Postaxial polydactyly OMIM:612913
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Cleft palate... OMIM:258860
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Postaxial hand poly... ORPHA:85284
Joubert Syndrome 16
Encephalocele, Polydactyly OMIM:614465
15Q24 Microdeletion Syndrome
Proximal placement of thumb, Abnormality of the dentition, Abnormal thumb morphology, Abnormal to... ORPHA:94065
14Q24.1Q24.3 Microdeletion Syndrome
Thin upper lip vermilion, Limited elbow extension and supination, Ventricular septal defect, Inte... ORPHA:401935
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Single transverse palmar crease, Deep philtrum, Widely spaced teeth, C... OMIM:619717
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Atrial septal defect, Microphthalmia, Broad thumb, Smooth ... OMIM:614526
Temtamy Syndrome
Short toe, Thick lower lip vermilion, Genu varum, Clinodactyly of the 5th finger, Microphthalmia,... ORPHA:1777
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus, Macroglossia, Epiphyseal stippling, Aplasia/Hypoplasia affecting... ORPHA:1914
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of meta... OMIM:300863
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb ORPHA:2091
Orofaciodigital Syndrome Xvii
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplicatio... OMIM:617926
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Microphthalmia, Brachydactyly, Syndactyly OMIM:610023
Jackson-Weiss Syndrome
Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti... ORPHA:1540
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the dentition, Cryptorchidism, Polydactyly, Brachydactyly OMIM:615982
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Natal tooth, Broad hallux, Ventricular septal defect, Hamartoma of tongu... OMIM:615948
Frontorhiny
Encephalocele, Camptodactyly of finger, Cleft palate, Finger clinodactyly, Basal encephalocele, C... ORPHA:391474
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Protruding tongue, Cryptorchidism, Hydrocephalus, Alveolar ridge overg... OMIM:612938
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial... ORPHA:1553
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Microphthalmia, Hydrocephalus, Cardiomyopathy OMIM:613155
Monosomy 18P
Carious teeth, Cleft palate, Downturned corners of mouth, Short philtrum, Holoprosencephaly, Hypo... ORPHA:1598
Caudal Duplication
Cryptorchidism, Myelomeningocele, Intestinal duplication, Spina bifida ORPHA:1756
Diabetic Embryopathy
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Cleft palate, Spin... ORPHA:1926
Lambert Syndrome
Wide mouth, Branchial anomaly, Ventricular septal defect ORPHA:1296
Cat Eye Syndrome
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... OMIM:115470
Bardet-Biedl Syndrome 19
Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly, Partial atrioventri... OMIM:615996
Kapur-Toriello Syndrome
Overlapping fingers, Ventricular septal defect, Camptodactyly of finger, Intestinal malrotation, ... OMIM:244300
Trisomy 8Q
Camptodactyly of finger, Cryptorchidism, Myelomeningocele, Non-midline cleft lip, Orofacial cleft... ORPHA:1752
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t... ORPHA:1354
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Ventricular septal defect, Epiphyseal stippling OMIM:614876
Sandestig-Stefanova Syndrome
Rocker bottom foot, Muscular ventricular septal defect, Orofacial cleft, Perimembranous ventricul... OMIM:618804
Adams-Oliver Syndrome
Encephalocele, Finger syndactyly, Brachydactyly, Gastrointestinal hemorrhage, Abnormal pulmonary ... ORPHA:974
Verheij Syndrome
Branchial cyst, Thin upper lip vermilion, Truncus arteriosus, Optic nerve hypoplasia, Ventricular... OMIM:615583
Fountain Syndrome
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Spina bifida, Thick l... ORPHA:3219
Trisomy 13
Anophthalmia, Ventricular septal defect, Median cleft lip, Abnormality of the dentition, High, na... ORPHA:3378
Suleiman-El-Hattab Syndrome
Thin upper lip vermilion, Ventricular septal defect, Single transverse palmar crease, Cryptorchid... OMIM:618950
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Ventricular septal defect, Esophageal atresia, Hydrocephalus, Cryptorchidism, Trach... ORPHA:77298
Acromelic Frontonasal Dysplasia
Encephalocele, Median cleft lip, Cryptorchidism, Meningocele, Patellar hypoplasia, Wide mouth, Ta... ORPHA:1827
Ritscher-Schinzel Syndrome 1
Syndactyly, Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Cleft palate... OMIM:220210
Orofaciodigital Syndrome Type 2
Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tibia, Atrioventr... ORPHA:2751
Trisomy 1Q
Toe syndactyly, Anophthalmia, Arachnodactyly, Camptodactyly of finger, Ventricular septal defect,... ORPHA:261344
Carpenter Syndrome 2
Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, Preaxial polydact... OMIM:614976
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Abnormality of the palmar crea... OMIM:618652
Cerebrocostomandibular Syndrome
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Cleft palate, Glossoptosi... ORPHA:1393
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, L... ORPHA:2211
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Umbilical hernia, Joint con... OMIM:618914
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
8P23.1 Duplication Syndrome
Toe syndactyly, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtr... ORPHA:251076
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Ventricular septal defect... ORPHA:46627
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the distal pha... OMIM:113000
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Ventricular septal defect, Abnormality of the hand, Cryptorchidism, Bilateral microph... ORPHA:369891
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Fanconi Anemia, Complementation Group R
Radial dysplasia, Absent thumb, Hydrocephalus, Agenesis of permanent teeth, Microphthalmia, Anal ... OMIM:617244
Filippi Syndrome
Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndactyly, Cryptorchidism, C... OMIM:272440
Femoral-Facial Syndrome
Thin upper lip vermilion, Short femur, Cryptorchidism, Abnormal fibula morphology, Coxa vara, Oro... ORPHA:1988
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Sandal gap, Long philtrum, Atrial septal defect, Microphthalmia, Tetralo... OMIM:300887
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Ventricular septal defect, Abnormality of the dentition, Deep philtru... ORPHA:251038
Mosaic Trisomy 9
Ventricular septal defect, Rocker bottom foot, Spina bifida, Micromelia, Camptodactyly of finger,... ORPHA:99776
Focal Dermal Hypoplasia
Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Gastroesophageal reflux, Finger syndacty... ORPHA:2092
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Abnormality of the philtrum, Bilateral single transverse palmar crease... ORPHA:1770
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Ventricular septal defect, Rocker bottom foot, Wide mouth, Delayed erupt... OMIM:618506
2Q31.1 Microdeletion Syndrome
Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, Atrial septal ... ORPHA:251014
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Sandal gap, Ventricular septal defect, Postaxial poly... OMIM:174300
Phaver Syndrome
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Myelomenin... ORPHA:2876
Trisomy 18
Ventricular septal defect, Camptodactyly of finger, Spina bifida, Esophageal atresia, Postaxial h... ORPHA:3380
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Coxa valga, Abnormality of the elbow, Cleft palate, Flat acetabular roof, Hemiatrophy of upper li... ORPHA:163649
Limb Body Wall Complex
Cutaneous finger syndactyly, Atrial septal defect, Aplasia of the proximal phalanges of the hand,... ORPHA:2369
Mosaic Trisomy 1
Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Absent distal interphalang... ORPHA:1692
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t... ORPHA:90650
Rhombencephalosynapsis
Finger syndactyly, Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Hydrocephalu... ORPHA:59315
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Aortic valve prolapse, Ventricular septal defect, Pierre-Robin sequ... OMIM:619980
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Alg3-Cdg
Abnormality of the gastrointestinal tract, Metaphyseal chondrodysplasia, Abnormal limb bone morph... ORPHA:79321
3C Syndrome
High, narrow palate, Orofacial cleft, Abnormal tricuspid valve morphology, Gastroesophageal reflu... ORPHA:7
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Hydrocephalus, Short foot, Hand polydactyly... ORPHA:250989
Basal Cell Nevus Syndrome 1
Odontogenic keratocysts of the jaw, Down-sloping shoulders, Spina bifida, Cleft upper lip, Palmar... OMIM:109400
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Intestinal malrotation, Cryptorchidism, Hydrocephalus, Postaxial hand polydactyly,... ORPHA:2166
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, High, narrow palate, Ab... ORPHA:2879
Vacterl/Vater Association
Occipital encephalocele, Finger syndactyly, Preaxial hand polydactyly, Non-midline cleft lip, Cry... ORPHA:887
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Short thumb, Cleft palate, M... OMIM:612561
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Short lingual frenulum, Micromelia, P... OMIM:614091
8Q12 Microduplication Syndrome
Ventricular septal defect, Short foot, Everted lower lip vermilion, Gastroesophageal reflux, Narr... ORPHA:228399
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Accessory oral frenulum, Conical tooth, Complete atrioventricular canal de... OMIM:619142
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Thick lower lip vermilion, Widely-spaced maxillary central incisors, S... OMIM:608227
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Abnormal finger morphology, Gastroesophageal reflux, Atrial septal defect, Phocomel... ORPHA:2538
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod... OMIM:602418
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, D... OMIM:617201
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... OMIM:210710
Nanophthalmos
Microphthalmia ORPHA:35612
Gracile Bone Dysplasia
Hydrocephalus, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Ankyloglossia, Bra... OMIM:602361
Marden-Walker Syndrome
Arachnodactyly, Dextrocardia, High, narrow palate, Narrow mouth, Pyloric stenosis, Cryptorchidism... OMIM:248700
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Accessory oral frenulum, Small hand, Bilateral cleft lip and pal... OMIM:619339
3Mc Syndrome 3
Cleft upper lip, Cryptorchidism, Preaxial polydactyly, Cleft palate, Radioulnar synostosis, Clino... OMIM:248340
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Rocker bottom foot, Single tr... OMIM:272950
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect, Tongue fasciculations OMIM:253300
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Tooth agenesis, Microphthalmia, High palate, Cleft palate ORPHA:1135
Pallister-Hall Syndrome
Anteriorly placed anus, Holoprosencephaly, Distal shortening of limbs, Syndactyly, Mesoaxial foot... OMIM:146510
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Aqueductal stenosis, Absent radius, Short tibia, Humeroradial synostosi... OMIM:251230
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars... OMIM:617102
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... OMIM:101200
Cohen Syndrome
High, narrow palate, Short philtrum, Clinodactyly of the 5th finger, Finger syndactyly, Arachnoda... ORPHA:193
Cofs Syndrome
Microphthalmia, Everted lower lip vermilion, Camptodactyly of finger ORPHA:1466
Nail-Patella Syndrome
Biceps aplasia, Glenoid fossa hypoplasia, Spina bifida, Cleft upper lip, Triceps aplasia, Patella... OMIM:161200
Li-Campeau Syndrome
Ventricular septal defect, Single transverse palmar crease, Cryptorchidism, Gastrointestinal dysm... OMIM:619189
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Dental crowding, Upper limb asymmetry, High palate, Polydactyly, Clinodactyly of the 5th finger ORPHA:231140
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Atrial septal defect, Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect,... ORPHA:329224
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Nephrotic Syndrome, Type 11
Ventricular septal defect, Arachnodactyly, Cleft lip, Partial duplication of thumb phalanx, Dilat... OMIM:616730
Ritscher-Schinzel Syndrome 2
Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodactyly of finger, Ventric... OMIM:300963
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... OMIM:609945
Stevenson-Carey Syndrome
Pierre-Robin sequence, Downturned corners of mouth, Hip dysplasia, Gastroesophageal reflux, Narro... OMIM:611961
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Hydrocephalus, Postaxial hand polydactyly, Cone-shaped epiphyses of th... OMIM:615630
Holt-Oram Syndrome
Finger syndactyly, Ventricular septal defect, Down-sloping shoulders, Absent thumb, Abnormality o... ORPHA:392
Developmental Delay With Variable Neurologic And Brain Abnormalities
Down-sloping shoulders, Cubitus valgus, Widely spaced teeth, Camptodactyly, Microdontia, Micropht... OMIM:619694
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Chromosome 3Pter-P25 Deletion Syndrome
Thin upper lip vermilion, Overlapping toe, Postaxial polydactyly, Tapered finger, Cryptorchidism,... OMIM:613792
Congenital Toxoplasmosis
Microphthalmia, Hydrocephalus, Cardiomegaly ORPHA:858
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia OMIM:207950
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Abnormality of the dentition, Conical tooth, Cryptorchidism, Microphthalmia, Broad... ORPHA:228390
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Thin upper lip vermilion, Overlapping toe, Ventricular septal defect, Parachute mitral ... OMIM:618316
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... OMIM:605282
Solitary Median Maxillary Central Incisor
Anophthalmia, Cleft upper lip, Prominent median palatal raphe, Holoprosencephaly, Torus palatinus... OMIM:147250
Warburg Micro Syndrome 1
Overlapping toe, Cryptorchidism, Thin vermilion border, Narrow mouth, Microphthalmia OMIM:600118
Steinfeld Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal heart... OMIM:184705
Pai Syndrome
Encephalocele, Median cleft lip, Cleft palate, Abnormal oral frenulum morphology, Bifid uvula ORPHA:1993
16P13.11 Microduplication Syndrome
Ventricular septal defect, Arachnodactyly, Hand polydactyly, Transposition of the great arteries,... ORPHA:261243
Joubert Syndrome 22
Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, 2-3 toe syndactyly OMIM:615665
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ... OMIM:165590
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Cryptorchidism, Cleft palate, Tooth agenesis, Abnormal hip bone morpho... ORPHA:1166
Galloway-Mowat Syndrome 7
Hallux valgus, Arachnodactyly, Ventricular septal defect, Single transverse palmar crease, Cleft ... OMIM:618348
Meckel Syndrome 14
Occipital encephalocele, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial h... OMIM:619879
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Duode... ORPHA:2547
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Thick lower lip vermil... OMIM:220500
Congenital Varicella Syndrome
Microphthalmia, Micromelia ORPHA:291
Roifman Syndrome
Noncompaction cardiomyopathy, Short metacarpal, Thin upper lip vermilion, Ventricular septal defe... OMIM:616651
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Atrial septal defect, Tented upper lip vermilion, Ventricular septal defect, Rocker bo... OMIM:612582
Iniencephaly
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hydrocephalus, Myelomeningocele, Ane... ORPHA:63259
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Thin upper lip vermilion, Intestinal malrotation, Single transverse palmar crease, Ve... OMIM:614701
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Abnormality of the den... OMIM:179613
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Sandal gap, Tapered finger, Thin vermilion border, Long philtrum, Micropht... ORPHA:1438
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Meningocele, Anomalous pulmonary veno... ORPHA:2311
Multiple Epiphyseal Dysplasia Type 4
Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Arthral... ORPHA:93307
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Syndactyly, Hamartoma of tongue, Cleft upper lip, Myelomeningocele... OMIM:311200
Desbuquois Syndrome
Ventricular septal defect, Camptodactyly of finger, Coxa valga, Elbow dislocation, Small hand, Co... ORPHA:1425
Microphthalmia, Syndromic 11
Microphthalmia, Cleft palate, Cleft upper lip OMIM:614402
Adams-Oliver Syndrome 1
Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip,... OMIM:100300
Meckel Syndrome
Encephalocele, Bowing of the long bones, Anophthalmia, Aplasia/Hypoplasia of the tongue, Situs in... ORPHA:564
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia, Non-midline cleft lip, Cleft palate ORPHA:1791
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna... OMIM:142900
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, High pa... OMIM:608670
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Hydrocephalus, Metaphyseal... OMIM:224400
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Cryptorchidism, Postaxial foot poly... ORPHA:139471
Cat-Eye Syndrome
Microphthalmia, Hip dysplasia, Anal atresia ORPHA:195
Chromosome 17P13.1 Deletion Syndrome
Hallux valgus, Arachnodactyly, Broad hallux, Proximal placement of thumb, Spina bifida, Tapered f... OMIM:613776
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft upper lip, Cleft palate, Transposition of the great arteries, Do... OMIM:231060
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag... ORPHA:2791
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Cleft palate, High palate OMIM:616038
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus, Cryptorchidism OMIM:601794
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Atrial septal defec... OMIM:274000
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Nanophthalmos 4
Microphthalmia OMIM:615972
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Talipes equinovarus OMIM:616171
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Cryptorchidism, Cleft palate, Short 5th finger, Polydactyly, Small placenta, Ectrodac... ORPHA:397590
Trigonocephaly With Short Stature And Developmental Delay
Clinodactyly of the 5th finger, High palate, Ventricular septal defect, Broad alveolar ridges OMIM:314320
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Thick lower lip vermilion, High palate, Atria... OMIM:612946
Oculodentodigital Dysplasia
Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morphology, Short hallu... ORPHA:2710
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ... OMIM:147891
Heart And Brain Malformation Syndrome
Ventricular septal defect, Camptodactyly of finger, High, narrow palate, Cleft lip, Thick lower l... OMIM:616920
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Fryns Syndrome
Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Cryp... ORPHA:2059
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... ORPHA:93259
Wildervanck Syndrome
Meningocele ORPHA:3456
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ... OMIM:311300
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Hypoplasia of... ORPHA:3412
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Postaxial polydactyly, Abnormally large globe, Hydrocephalus, Atrial s... OMIM:603387
Joubert Syndrome 7
Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum OMIM:611560
Waardenburg Syndrome Type 1
Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upper lip, Meningocele, Cl... ORPHA:894
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Toe syndactyly, Mitral stenosis, Camptodactyly of finger, Ventr... ORPHA:2008
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... OMIM:603543
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Ventricular septal defect, Camptodactyly of finger, Exaggerated cupid's... ORPHA:261236
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Protein-losing entero... OMIM:235510
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Overlapping toe, Ventricular septal defect, Single transverse palmar cr... OMIM:613884
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Arachnodactyly, Bicuspid aortic valve, Postaxial polydactyly, Tapered finge... OMIM:619721
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Branchial ... ORPHA:261330
Mckusick-Kaufman Syndrome
Finger syndactyly, Ventricular septal defect, Tarsal synostosis, Aganglionic megacolon, Cryptorch... ORPHA:2473
Burn-Mckeown Syndrome
Ventricular septal defect, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Thin vermilion bord... OMIM:608572
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Atrial septal defect, Overlapping fingers, Overlapping toe, Ventricular septal... ORPHA:464738
Kury-Isidor Syndrome
Finger syndactyly, Tented upper lip vermilion, Ventricular septal defect, Rocker bottom foot, Pro... OMIM:619762
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect, Overlapping toe, Downturned corners of mouth, Th... OMIM:618974
Cerebrooculonasal Syndrome
Encephalocele, Anophthalmia, Optic nerve hypoplasia, Postaxial polydactyly, Hydrocephalus, Postax... OMIM:605627
Martsolf Syndrome 1
Short metacarpal, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striata, Broad finger... OMIM:212720
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Tapered finger, Abno... OMIM:239300
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Rocker bottom foot, Coxa valga, Carious teeth, Cryptorchidism, Elbow f... OMIM:214150
Trisomy 20P
Finger syndactyly, Macroorchidism, Camptodactyly of finger, Spina bifida, Abnormality of the dent... ORPHA:261318
Joubert Syndrome 10
Deep philtrum, Thick vermilion border, Postaxial polydactyly OMIM:300804
Mend Syndrome
Overlapping fingers, Broad hallux, Overlapping toe, Asymmetry of the mouth, Long fingers, Hydroce... ORPHA:401973
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Camptodactyly of finger, Bilateral microphthalmos, Flared metaphysis, Adducte... OMIM:610758
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Broad secondary alveolar ridge, High palate, Ventricular septal defect, Fifth finger distal phala... ORPHA:3369
Seckel Syndrome 2
Clinodactyly of the 5th finger, Microphthalmia, Microglossia, Microdontia OMIM:606744
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Oligodontia, Cleft soft palate, Cryptorchidism, Gingival overgrowth, Mesomelia, ... OMIM:616331
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Short palm, Clinodactyly of the 5th finger, Atrioventricular canal defect,... ORPHA:508498
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Ventricular septal defect, Single transverse palmar crease, 2-3 toe s... OMIM:616449
Fanconi Anemia, Complementation Group S
Macrodontia, Proximal placement of thumb, Dental malocclusion, Narrow palate, Microphthalmia, Cli... OMIM:617883
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Downturned corners ... OMIM:615761
Isotretinoin Syndrome
Spina bifida occulta, Cleft palate ORPHA:2305
Neu-Laxova Syndrome 1
Micromelia, Swollen lip, Calcaneovalgus deformity, Patent foramen ovale, Finger syndactyly, Spina... OMIM:256520
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Cardiomegaly, High,... ORPHA:3472
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Bicuspid aortic valve, Cleft upper lip, Cryptorchidism, Duplication of ... OMIM:243310
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ... OMIM:615779
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Abnormal tricuspid valv... ORPHA:1507
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca... ORPHA:1352
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Situs i... OMIM:615994
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Dental crowding, Hiatus hernia, Persistence of primary teeth, Gastroes... OMIM:619769
Meckel Syndrome, Type 6
Occipital encephalocele, Cleft upper lip, Hydrocephalus, Postaxial hand polydactyly, Anencephaly,... OMIM:612284
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Cleft lip, Cryptorchidism, Cleft palate, Abdominal situs inversus, Pul... OMIM:619123
Insulin-Like Growth Factor I, Resistance To
Thin upper lip vermilion, Rieger anomaly, Sandal gap, Ventricular septal defect, Narrow mouth, Sm... OMIM:270450
Subaortic Stenosis-Short Stature Syndrome
Bilateral single transverse palmar creases, Membranous subvalvular aortic stenosis, Subvalvular a... ORPHA:3191
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Preaxial hand polydactyly, Lymphoid nodular hyperplasia, Foot polydactyly ORPHA:210548
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Median cleft lip and palate, Bilateral cleft lip, Aloba... OMIM:610828
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Cryptorc... OMIM:618067
Congenital Rubella Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the iris, Atrial septal defect, Microphthalmia, ... ORPHA:290
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border, High palate... ORPHA:544254
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Hydrocephalus, Tracheoesophageal fistula, Orofacial cleft, Foot polyda... ORPHA:268249
Polysyndactyly With Cardiac Malformation
Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu... OMIM:263630
C Syndrome
Short metacarpal, Toe syndactyly, Ventricular septal defect, Micromelia, Accessory oral frenulum,... OMIM:211750
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thin upper lip vermilion, Ventricular septal defect, Short lingual frenulum, Narrow mouth, Downtu... OMIM:617360
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Cryptorchidism, 2-3 toe syndactyly, High palate, Talipes equinovarus, ... ORPHA:3306
Congenital Fibrinogen Deficiency
Clubbing of fingers, Gingival bleeding, Left ventricular hypertrophy, Microphthalmia, Volvulus, D... ORPHA:335
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Cardiomyopathy, Macroglossia, Mic... ORPHA:370959
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Lobulated tongue, Holoprosencephaly, Short palm, Patent foramen ovale, Hamart... OMIM:269860
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Bilateral single transverse palmar creases, High, narrow palate, Cleft... ORPHA:2516
Hogue-Janssen Syndrome 2
Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, De... OMIM:616362
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia OMIM:615181
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Proximal placement of thumb, Preaxial hand polydactyly, Deep philtrum,... OMIM:610536
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Adams-Oliver Syndrome 2
Single transverse palmar crease, Hydrocephalus, Absent distal phalanges, Short middle phalanx of ... OMIM:614219
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Thin upper lip vermilion, Cryptorchidism, Ulnar bowing, Shortening of all... OMIM:619135
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Tented upper lip vermilion, Broad hallux, Single transverse palmar crease, Short philtrum, High p... OMIM:614105
Cleidocranial Dysplasia
High, narrow palate, Coxa vara, Glossoptosis, Hypoplastic inferior ilia, Clinodactyly of the 5th ... ORPHA:1452
Meckel Syndrome, Type 1
Occipital encephalocele, Lobulated tongue, Syndactyly, Cleft upper lip, Cryptorchidism, Postaxial... OMIM:249000
Jansen-De Vries Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Small hand, Short foo... OMIM:617450
Adams-Oliver Syndrome 6
Syndactyly, Ventricular septal defect, Esophageal varix, Foot oligodactyly, Truncus arteriosus, B... OMIM:616589
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Cryptorchidism... ORPHA:1865
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Exaggerated cupid's bow, Single transverse palmar crease, Cleft lip, Deep philtrum, 2-3 toe synda... OMIM:620098
Fanconi Anemia
Abnormal femur morphology, High palate, Triphalangeal thumb, Atrial septal defect, Clinodactyly o... ORPHA:84
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Dental malocclusion, Oligo... OMIM:618727
Microphthalmia, Syndromic 13
Microphthalmia, Widely-spaced incisors OMIM:300915
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Retinitis Pigmentosa 89
Esophageal varix, Bicuspid aortic valve, Postaxial polydactyly OMIM:618955
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Baraitser-Winter Syndrome 2
Thin upper lip vermilion, Orofacial cleft, Wide mouth, Long philtrum, Microphthalmia OMIM:614583
Cooper-Jabs Syndrome
Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Anteriorly place... ORPHA:1488
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Thin upper lip vermilion, Scapular winging, Sandal gap, Ventricular septal ... OMIM:617061
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Hyperextensibility of the finger joints, Thin upper lip vermilion, Toe syndactyly, Arachnodactyly... ORPHA:505237
Temtamy Syndrome
Dental crowding, Hip dislocation, Hypoplasia of teeth, Short 2nd toe, Talipes equinovarus, Long p... OMIM:218340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia, Hydrocephalus OMIM:613153
Hydrolethalus Syndrome 1
Median cleft lip, Ventricular septal defect, Preaxial hand polydactyly, Postaxial hand polydactyl... OMIM:236680
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Broad long bones, Dental crowding, Fifth finger distal phalanx clinoda... OMIM:257850
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Median cleft lip, Abno... ORPHA:3186
Woods Syndrome
Ventricular septal defect, Single transverse palmar crease, 3-4 finger cutaneous syndactyly, Thin... OMIM:615236
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Abnormal palmar dermatoglyphics, Microdontia, Cryptorchidism, Cleft palate, Hypoplasia of teeth, ... ORPHA:2728
Microphthalmia, Syndromic 2
Anophthalmia, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Atrial septal defect, Contr... OMIM:300166
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Catel-Manzke Syndrome
Single transverse palmar crease, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid... OMIM:616145
Constricting Bands, Congenital
Encephalocele, Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus, ... OMIM:217100
Joubert Syndrome 37
Postaxial polydactyly, Cryptorchidism, High palate, Microphthalmia, Decreased testicular size OMIM:619185
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Tapered finger, Triangular mouth, Flattened epiphysis, Genu valgum, Polydac... OMIM:607131
Genitopalatocardiac Syndrome
Cryptorchidism, Hydrocephalus, Postaxial hand polydactyly, Non-midline cleft lip, Cleft palate, D... ORPHA:2075
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Preaxia... OMIM:263520
Chromosome 9P Deletion Syndrome
Long toe, Thin upper lip vermilion, Sandal gap, Ventricular septal defect, Hallux varus, Tapered ... OMIM:158170
Acro-Renal-Ocular Syndrome
Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Optic disc hypoplasia, Toe synda... ORPHA:959
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Cleft upper lip, Hydrocephalus, Cleft palate, Buphthalmos, Macroglossia, Microphth... OMIM:613150
19P13.3 Microduplication Syndrome
Ventricular septal defect, Unilateral cryptorchidism, Long fingers, Hip dislocation, Cleft palate... ORPHA:447980
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Osteopathia striata, High palate, Gastroesophageal reflux, Atrial septal defect,... OMIM:300373
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormal morphology of the radius, Median cleft lip, Radial club hand, Cleft palate, Holoprosence... ORPHA:2165
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cryptorchidism, Hydrocephalus, Orofacial cleft, Aplasia/Hypoplasia involvi... ORPHA:3301
3Q29 Microdeletion Syndrome
Dental crowding, Tapered finger, Abnormality of the dentition, Orofacial cleft, High palate, Shor... ORPHA:65286
Emanuel Syndrome
Congenital hip dislocation, Truncus arteriosus, Ventricular septal defect, Dental crowding, Delay... OMIM:609029
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Velopharyngeal in... ORPHA:199306
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Ventricular septal defect, Camptodactyly of finger, Abnormalit... ORPHA:3138
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scapular winging, Ventricular septal defect, Monkey wrench femoral neck, Micromelia, Single trans... OMIM:618870
Distal Deletion 19P
Long toe, Ventricular septal defect, Arachnodactyly, Cleft palate, Short philtrum, Tricuspid valv... ORPHA:96129
Oculodentodigital Dysplasia
Atrial septal defect, Selective tooth agenesis, Microdontia, Cleft upper lip, Carious teeth, 4-5 ... OMIM:164200
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Bilateral cleft lip and palate ORPHA:1473
Opitz-Kaveggia Syndrome
Dental crowding, Single transverse palmar crease, Anteriorly placed anus, Prominent fingertip pad... OMIM:305450
Fetal Alcohol Syndrome
Thin upper lip vermilion, Microdontia, Non-midline cleft lip, Cleft palate, Atrial septal defect,... ORPHA:1915
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Dental crowding, Tibial bowing, High palate, Short philtrum, Microdontia, Clinodactyly of the 5th... ORPHA:251028
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great a... OMIM:306955
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Optic disc hypoplasia, Absent radius, Preaxial hand polydactyly,... ORPHA:233
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies