Cobcephaly

Cebocephaly, another facial anomaly, is characterized by a small, flattened nose with a single nostril situated below incomplete or underdeveloped closely set eyes.

The least severe in the spectrum of facial anomalies is the median cleft lip, also called premaxillary agenesis.

Although the causes of most cases of holoprosencephaly remain unknown, researchers know that approximately one-half of all cases have a chromosomal cause. Such chromosomal anomalies as Patau’s syndrome (trisomy 13) and Edwards’ syndrome (trisomy 18) have been found in association with holoprosencephaly. There is an increased risk for the disorder in infants of diabetic mothers.

There is no treatment for holoprosencephaly and the prognosis for individuals with the disorder is poor. Most of those who survive show no significant developmental gains. For children who survive, treatment is symptomatic. It is possible that improved management of diabetic pregnancies may help prevent holoprosencephaly, however there is no means of primary prevention.

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Last updated 11/22/99