Sheeza Basharat
Sheeza Basharat
in General
Nonsyndromic holoprosencephaly

Nonsyndromic holoprosencephaly

Nonsyndromic holoprosencephaly is a rare developmental abnormality of brain that affects the head and face.Mutations in 11 genes have been found to cause nonsyndromic holoprosencephaly. The severity of facial features is directly related to the severity of the brain abnormalities.The distinctive pattern of facial features include narrowing of the head at the temples,upslanting palpebral fissures,large ears and a short nose with upturned nostrils. Moreover,affected individuals also frequently have a malfunctioning pituitary gland, developmental delay and intellectual disability. Credits: https://medlineplus.gov/genetics/condition/nonsyndromic-holoprosencephaly/

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