Meyer-schwickerath-weyers syndrome (microphthalmos syndrome; oculodentodigital dysplasia)

General: Etiology unknown; two types recognized: (I) dysplasia oculodentodigitalis and (II) dyscraniopygophalangie; type I is cha 323b16d racterized by microphthalmia with possible iris pathology and glaucoma, oligodontia and brown pigmentation of teeth, camptodactyly, and possible absence of middle phalanx of second to fifth toes; type II consists of severe microphthalmos to anophthalmos, polydactyly, and developmental anomalies of nose and oral cavity; both sexes affected; present from birth; abnormal cerebral white matter.

Ocular: Microphthalmos; hypotrichosis; glaucoma; iris anomalies (eccentric pupil; changes in normal iris texture; remnants of pupillary membrane along iris margins); microcornea; hypertelorism; myopia; hyperopia; keratoconus.

Clinical: Thin, small nose with anteverted nostrils and hypoplastic alae; syndactyly; camptodactyly (fourth and fifth fingers); anomalies of middle phalanx of fifth finger and toe; hypoplastic teeth; wide mandible; alveolar ridge; sparse hair growth; visceral malformations.

Geeraets WK. Ocular Syndromes. 3rd ed. Philadelphia: Lea & Febiger, 1976.

Gutmann DH, et al. Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter. Am J Med Genet 1991; 41:18-20.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12^th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

Meyer-Schwickerath, et al. Mikrophthalmus-syndrome. Klin Monatsbl Augenheilkd 1957; 131:18.

Weyers H. Zur Dyscephalie mit Cataracta Congenita und Hypotrichose. Eur J Pediatr 1954; 74:468.