Holoprosencephaly is associated with multiple complications, the severity of which are determined by the extent of the malformation. While severe malformations may be associated with intra-uterine fetal demise or death in the perinatal period, less severely affected individuals may live for a year or more.


Parameters affecting complications:

(1) severity of cerebral malformation

(2) severity of associated craniofacial malformations



(1) developmental delay

(2) delayed growth

(3) panhypopituitarism

(4) defective motor development and function, with spasticity, dystonia, hypotonia and/or chorea

(5) hydrocephalus

(6) blindness or defective vision

(7) difficulty swallowing, with need for nutritional support and risk of aspiration pneumonia

(8) defective hypothalamic and brainstem function affecting body temperature, heart rate, respirations, sleep

(9) extrapyramidal neurologic deficits (dystonia, choreiform movements, other)

(10) problems with communication, including language delay

(11) seizures


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