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Syndactyly type 3
1 OMIM reference -
1 associated gene
4 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 3
Oculodentodigital dysplasia
2 OMIM references -
1 associated gene
86 signs/symptoms
Syndactyly type 3
Oculodentodigital dysplasia

GJA1
(UniProt - OMIM)
 GJA1
(UniProt - OMIM)

COMMON
GENES 		GJA1


Citations in the biomedical literature:


Syndactyly type 3
GJA1
Oculodentodigital dysplasia



Syndactyly type 3
Oculodentodigital dysplasia

Synonym(s):
- SD3
- Syndactyly of fingers 4 and 5
Synonym(s):
- Meyer-Schwickerath syndrome
- ODDD syndrome
- Oculodentoosseous dysplasia
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare odontologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C538154
External references:
2 OMIM references -
No MeSH references
COMMON
SIGNS 		- Autosomal dominant inheritance
- Camptodactyly of some fingers
- Syndactyly of fingers / interdigital palm

Syndactyly type 3
Oculodentodigital dysplasia

Occasional
- Short foot / brachydactyly of toes


Very frequent
- Anodontia / oligodontia / hypodontia
- Anomalies of nose and olfaction
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Anteverted nares / nostrils
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Clinodactyly of fifth finger
- Enamel anomaly
- Microcornea
- Multiple caries
- Narrow nasal bridge
- Premature lost of decidious teeth
- Syndactyly of toes
- Thick columella
- Thin / hypoplastic ala nasi

Frequent
- Abnormal fingernails
- Abnormal gait
- Abnormal hair texture / hair dysplasia
- Anomalies of eyes and vision
- Ataxia / incoordination / trouble of the equilibrium
- Bladder and ureter anomalies
- Broad alveolar ridge
- Camptodactyly of fingers
- Cataract / lens opacification
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Clinodactyly of fingers 1,2,3,4 / overlapping fingers
- Conductive deafness / hearing loss
- Cortical anomaly / thick bone cortical layer
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Elocution disorders / dysarthria / dysphonia
- Enlargment of jaw / large jaw
- External ear anomalies
- Glaucoma
- Hemiplegia / diplegia / hemiparesia / limb palsy
- High forehead
- Hypereflexia
- Hypermetropia
- Hyperostosis
- Hypertelorism
- Hypertonia / spasticity / rigidity / stiffness
- Hypotelorism
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral calcifications
- Median cleft lip
- Metaphyseal anomaly
- Muscle weakness / flaccidity
- Myopia
- Nails anomalies
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Prognathism / prognathia
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short / small nose
- slow growth of the hair
- Small / triangular nares / nostrils
- Visual loss / blindness / amblyopia

Occasional
- Abnormal vertebral size / shape
- Aniridia / iris hypoplasia
- Autosomal recessive inheritance
- Blepharophimosis / short palpebral fissures
- Brittle hair / distrix / trichorrhexis
- Cardiac rhythm disorder / arrhythmia
- Clavicle absent / abnormal
- Congenital cardiac anomaly / malformation / cardiopathy
- Deepset eyes / enophthalmos
- Diaphyseal anomaly
- Epicanthic folds
- Fine hair
- Hearing loss / hypoacusia / deafness
- Hypoglycemia
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Madelung's deformity
- Micrognathia / retrognathia / micrognathism / retrognathism
- Nystagmus
- Palmoplantar hyperkeratosis / keratoderma
- Preaxial polydactyly (hand)
- Short big toe
- Short hand / brachydactyly
- Strabismus / squint
- Taurodontia
- Umbilical hernia
- Upper limb polydactyly / hexadactyly
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures
- Ventricular septal defect / interventricular communication