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Anophthalmia/microphthalmia-esophageal atresia syndrome
Disease definition
A syndrome that belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.
ORPHA:77298
Classification level: DisorderSummary
Epidemiology
Prevalence is unknown but less than 30 cases (male and female) have been described in the literature so far.
Clinical description
Genital anomalies (hypospadias, micropenis, and/or cryptorchidism) were reported in most of the male patients. Several other associated anomalies have been described including developmental anomalies of the central nervous system, cardiac defects, vertebral anomalies, growth failure, sensorineural hearing loss, anterior pituitary hypoplasia and hypogonadotropic hypogonadism. Intellectual development was normal in some cases, but mild to significant psychomotor delay has also been reported.
Etiology
Inheritance is autosomal dominant and the syndrome is caused by heterozygous mutations or deletions in the SOX2 gene (3q26.3-q27).
A summary on this disease is available in Deutsch (2010) Español (2010) Français (2010) Italiano (2010) Nederlands (2010)
Detailed information
Guidelines
- Clinical practice guidelines
- English (2022) - Eur J Endocrinol
- Français (2022) - PNDS
Disease review articles
- Clinical genetics review
- English (2020) - GeneReviews
Genetic Testing
- Guidance for genetic testing
- English (2020) - Eur J Hum Genet
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produced/endorsed by FSMR(s)Additional information