Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome

Alison Yeung, David Amor, Ravi Savarirayan
American Journal of Medical Genetics. Part A 2009 February 15, 149 (4): 767-9
We describe two patients with upper eyelid coloboma, hypertelorism, disruption of the eyebrow, and anterior hairline anomaly. The phenotype in our patients is consistent with Manitoba Oculotrichoanal syndrome (MOTA syndrome, OMIM 248450), which comprises a variable spectrum of eyelid malformations ranging from cryptophthalmos to upper eyelid colobomas; aberrant ipsilateral anterior hairline, and anal anomalies. It was first described in members of the indigenous population of the Island Lake region of Northern Manitoba, Canada. Autosomal recessive inheritance is demonstrated in these families and single-gene etiology has been proposed. This constellation of anomalies also corresponds to those arising from the Number 10 cleft in Tessier's anatomical classification of clefting malformations. Tessier Number 10 clefts are the rarest of the 15 craniofacial clefting malformations first described by Tessier [Tessier (1976); J Maxillofac Surg 4:69-92]. They have only ever been reported as sporadic occurrences and the underlying etiology is thought to be environmental. We believe the phenotype in our patients and in those previously described with MOTA syndrome represents a disorder of craniofacial clefting; specifically, one that occurs along the tissue planes of the Tessier Number 10 cleft. The familial clustering of these facial features and their variable association with other congenital anomalies supports a genetic rather than environmental cause. The mapping of the gene for this syndrome is likely to involve a combined functional and positional approach with a focus on candidate genes involved in craniofacial development.

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