Microtia-anotia

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 (OMIM ), 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 (OMIM ), branchiotorenal/branchiootic syndromes (see {113650} and {602588}), oculoauricular syndrome (OMIM ), microtia with hearing impairment and cleft palate (OMIM ), or chromosomal syndromes, such as trisomy 18. M-A also occurs as part of seemingly nonrandom patterns of multiple defects, such as Goldenhar syndrome (OMIM ) (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.

Clinical Features

Phenotypes and symptoms related to Microtia-anotia

  • Microtia
  • Small for gestational age
  • Holoprosencephaly
  • Anotia

Incidence and onset information

— Based on the latest data available Microtia-anotia have a estimated birth prevalence of 15.5 per 100k in Europe.


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Microtia-anotia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %
HOXA2.

By Fulgent Genetics Fulgent Genetics in United States.

HOXA2
Specificity
100 %
Genes
100 %
Microtia , Sequencing HOXA2 Gene.

By Reference Laboratory Genetics in Spain.

HOXA2
Specificity
100 %
Genes
100 %

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