Oculodentodigital dysplasia

Preferred Label : Oculodentodigital dysplasia;

Symbol : ODDD;

CISMeF acronym : ODDD; ODOD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ODOD; Oculodentoosseous dysplasia; Odd syndrome;

Description : Oculodentodigital syndrome is characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding (summary by Judisch et al., 1979). Neurologic abnormalities are sometimes associated (Gutmann et al., 1991), and lymphedema has been reported in some patients with ODDD (Brice et al., 2013). - Genetic Heterogeneity of Oculodentodigital Syndrome An autosomal recessive form of ODDD (257850) is also caused by mutation in the GJA1 gene, but the majority of cases are autosomal dominant.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the connexin 43 gene (GJA1, 121014.0003);

Prefixed ID : #164200;

Details

Origin ID

164200;

UMLS CUI

C0812437;

Automatic exact mappings (from CISMeF team)
- GJA1 wt Allele [NCIt concept]
- Mitotane [NCIt concept]
- Oculo-dento-digital dysplasia [ICD-11 More detail]
- Oculo-digito-oesophageal-duodenal syndrome [ICD-11 More detail]
- Oculodento-osseous dysplasia (disorder) [SNOMED CT concept]
- gap junction protein alpha 1 [ORDO Gene]
- olean-11,13(18)-diene-3,30-diol dihemiphthalate [MeSH concept]
- olean-11,13(18)-diene-3,30-diol dihemiphthalate, disodium salt [MeSH Supplementary Concept]
- symbol withdrawn ODDD [HGNC gene]
Currated CISMeF NLP mapping
- Oculodentodigital dysplasia [PASCAL descriptor]
- Oculodentodigital dysplasia [MedDRA Preferred Term]
- Oculodentodigital dysplasia [ORDO Disease]
- Oculodentodigital syndrome (disorder) [SNOMED CT concept]
- oculodentodigital dysplasia [DO Concept]
- oculodentodigital dysplasia [MeSH concept]
- oculodentodigital dysplasia [MeSH Supplementary Concept]
- oculodentodigital syndrome [Disease (Nov.)]
- oculodentodigital syndrome [SNOMED Notion]
DO Cross reference
- oculodentodigital dysplasia [DO Concept]
Genes related to phenotype
- Gap junction protein, alpha-1 [OMIM gene]
HPO term(s)
- 3-4 toe syndactyly [HPO term]
- 4-5 finger syndactyly [HPO term]
- Abnormal cerebral white matter morphology [HPO term]
- Abnormality of the pinna [HPO term]
- Arrhythmia [HPO term]
- Ataxia [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Basal ganglia calcification [HPO term]
- Blepharophimosis [HPO term]
- Broad alveolar ridges [HPO term]
- Carious teeth [HPO term]
- Cataract [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Clinodactyly [HPO term]
- Conductive hearing impairment [HPO term]
- Cubitus valgus [HPO term]
- Dry hair [HPO term]
- Dysarthria [HPO term]
- Enamel hypoplasia [HPO term]
- Epicanthus [HPO term]
- Fine hair [HPO term]
- Fragile nails [HPO term]
- Glaucoma [HPO term]
- Hip dislocation [HPO term]
- Hyperactive deep tendon reflexes [HPO term]
- Intellectual disability [HPO term]
- Joint contracture of the 5th finger [HPO term]
- Low hanging columella [HPO term]
- Microcephaly [HPO term]
- Microcornea [HPO term]
- Microdontia [HPO term]
- Microphthalmia [HPO term]
- Narrow nasal bridge [HPO term]
- Neurogenic bladder [HPO term]
- Paraparesis [HPO term]
- Premature loss of teeth [HPO term]
- Seizure [HPO term]
- Selective tooth agenesis [HPO term]
- Short middle phalanx of the 5th finger [HPO term]
- Short palpebral fissure [HPO term]
- Slow-growing hair [HPO term]
- Sparse hair [HPO term]
- Spasticity [HPO term]
- Taurodontia [HPO term]
- Tetraparesis [HPO term]
- Thin anteverted nares [HPO term]
- Underdeveloped nasal alae [HPO term]
- Vertebral hyperostosis [HPO term]
- sparse, slow-growing hair [HPO term]
ORDO concept(s)
- Oculodentodigital dysplasia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Ectodermal dysplasia-ocular malformation syndrome (disorder) [SNOMED CT concept]
- Oculodentodigital dysplasia [MedDRA Preferred Term]
- Oculodentodigital dysplasia [ORDO Disease]
- Oculodentodigital dysplasia [PASCAL descriptor]
- Oculodentodigital syndrome (disorder) [SNOMED CT concept]
- ectodermal dysplasia-ocular malformation syndrome [SNOMED Notion]
- oculodentodigital dysplasia [MeSH Supplementary Concept]
- oculodentodigital dysplasia [MeSH concept]
- oculodentodigital dysplasia [DO Concept]
- oculodentodigital syndrome [SNOMED Notion]

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