Holoprosencephaly (Q46016): Difference between revisions

Holoprosencephaly is a brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and the 28th day of gestation and affecting both the forebrain and the face. In most of the cases, facial anomalies are observed: cyclopia, proboscis and median or bilateral cleft lip/palate in severe forms, and ocular hypotelorism or solitary median maxillary central incisor in minor forms. These latter midline defects can occur without the cerebral malformations (microforms). Children with HPE have many medical problems: developmental delay and feeding difficulties, epilepsy, and instability of temperature, heart rate and respiration. Endocrine disorders like diabetes insipidus, adrenal hypoplasia, hypogonadism, thyroid hypoplasia and growth hormone deficiency are frequent.