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LA05.2 Holoprosencephaly

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

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.

code elsewhere

• Cyclopia  (LA10.Y)

synonyms

• Holoprosencephaly
• HPE - [holoprosencephaly]
• Lobar holoprosencephaly
• Lobar HPE - [holoprosencephaly]
• Semilobar holoprosencephaly
• Semilobar HPE - [holoprosencephaly]
• Alobar holoprosencephaly
• Alobar HPE - [holoprosencephaly]
• Microform holoprosencephaly
• Holoprosencephaly, minor form
• Holoprosencephaly-like
• Holoprosencephaly, middle interhemispheric variant
• Holoprosencephaly, midline interhemispheric variant
• middle interhemispheric fusion
• syntelencephaly
• Holoprosencephaly with congenital nasal pyriform aperture stenosis
• Apertura pyriformis with holoprosencephaly
• Congenital stenosis of apertura pyriformis with holoprosencephaly
• Congenital nasal pyriform aperture hypoplasia with holoprosencephaly
• Holoprosencephaly with cyclopia or synophthalmia

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