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Townes-Brocks syndrome

A rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.

Microphthalmia

A developmental anomaly characterized by abnormal smallness of one or both eyes.

Total: 1

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PMID (PMCID)
20003547 (2806267)	MALE	Infant, Newborn
	Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes.
	Bardakjian TM, Schneider AS, Ng D, Johnston JJ, Biesecker LG. BMC Med Genet. 2009;10:137.
	In retrospect, this child has a number of features that can be explained by the SALL1 deletion, although it is not clear if the microphthalmia is a rare feature of Townes-Brocks syndrome or caused by other mechanisms.