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A syndrome associated with microcephaly, mental deficiency, and chorioretinal dysplasia.

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CDMMS; Microcephaly with Chorioretinopathy.

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Approximately 20 cases have been described in only about 10 families. Transmission is most likely autosomal dominant, although autosomal recessive inheritance has also been suggested.

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The diagnosis is mainly based on the clinical findings of microcephaly, mild mental retardation, and chorioretinal dysplasia. Other features may include frontal bossing, lissencephaly, and lacunar retinal depigmentation. Microphthalmia, microcornea, and ocular pterygium have been described in one family. One reported family also had polycystic kidney disease, which was not thought to be associated with this syndrome.

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Anesthesia in this condition has not been described. The features of the disease suggest patient cooperation may be limited. Anxiolytic and/or sedative premedication and the presence of the primary caregiver during induction of anesthesia may be helpful.

Hordijk R, Van de Logt F, Houtman WA, et al: Chorioretinal dysplasia-microcephaly-mental retardation syndrome: Another family with autosomal dominant inheritance. Genet Couns 7:113, 1996.  [PubMed: 8831130]
Sadler LS, Robinson LK: Chorioretinal dysplasia-microcephaly-mental retardation syndrome: Report of an American family. Am J Med Genet 47:65, 1993.  [PubMed: 8368255]

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