Preferred Label : Microtia-anotia;
Type : Phenotype or locus, molecular basis unknown;
Description : Microtia-anotia (M-A) can occur either as an isolated defect or in association with
other defects. Only in a minority of cases has a genetic or environmental cause been
found; in these cases, M-A is usually part of a specific pattern of multiple congenital
anomalies. For instance, M-A is an essential component of isotretinoin embryopathy
(243440), is an important manifestation of thalidomide embryopathy, and can be part
of the prenatal alcohol syndrome and maternal diabetes embryopathy. M-A occurs with
a number of single gene disorders, such as Treacher Collins syndrome (154500), branchiotorenal/branchiootic
syndromes (see 113650 and 602588), oculoauricular syndrome (612109), microtia with
hearing impairment and cleft palate (612290), or chromosomal syndromes, such as trisomy
18. M-A also occurs as part of seemingly nonrandom patterns of multiple defects, such
as Goldenhar syndrome (164210) (Mastroiacovo et al., 1995). Alasti and Van Camp (2009)
reviewed the genetics of microtia and microtia-associated syndromes and discussed
their clinical aspects in relation to the causative genes. They stated that the estimated
prevalence of microtia is 0.8 to 4.2 per 10,000 births, that it is more common in
males, and that it can have a genetic or environmental predisposition.;
Inheritance : Autosomal dominant vs. multifactorial;
Prefixed ID : %600674;
Origin ID : 600674;
UMLS CUI : C1833486;
Automatic exact mappings (from CISMeF team)
- Broader ORDO disease(s)
- Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to BTNT
