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Bilateral microtia-deafness-cleft palate syndrome
This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.
- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: Q87.0
- OMIM: 612290
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
It has been described in four individuals from a consanguineous Iranian family.
The syndrome is caused by point mutations in the HOXA2 gene, a gene that has already been shown to be involved in development of the auditory system in mice.