Holoprosencephaly Clinical Presentation

Updated: Mar 30, 2022
  • Author: Nusrat Ahsan, MD; Chief Editor: Luis O Rohena, MD, PhD, FAAP, FACMG  more...
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A diagnosis of holoprosencephaly may be made prenatally or it may be obvious at birth because of the craniofacial abnormalities.

The severity of craniofacial malformations and holoprosencephaly correspond in most cases, but not all. [96, 97] The categorization of the type of holoprosencephaly requires neuroimaging.

Epilepsy is common, occurring in about 40% of patients with holoprosencephaly. [18, 19, 20, 21]  Patients often have feeding difficulties and resultant malnutrition. [22] Pituitary dysfunction is also common. [23] Other problems include temperature dysregulation, disturbed sleep cycle, brainstem dysfunction, and recurrent respiratory tract infections. [20, 24]  A detailed prenatal and family history should be documented in all cases.



Physical Examination

The severity of developmental delay depends on the severity of the malformation. Movement disorders include spasticity, hypotonia, choreoathetosis, and dystonia. [25]  In the absence of microcephaly, hydrocephalus should be considered a possibility. [98]