Condition
Holoprosencephaly
Orthopaedics
Overview
Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.
This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.
Quick facts about Holoprosencephaly
- Topic type
- Condition
- Category
- Orthopaedics
- MeSH classification
- C05.660.207.410|C10.500.034.875|C16.131.077.410|C16.131.260.380|C16.131.621.207.410|C16.131.666.034.875|C16.320.180.380
Preparing for an appointment about Holoprosencephaly
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- Write down your symptoms and when they started.
- Bring details of any medicines, supplements or previous treatments.
- Ask what tests or assessments may be needed.
- Ask what treatment or management options may be suitable.
- Ask when you should seek urgent medical help or follow-up care.
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Source: Medical Subject Headings (MeSH), produced by the U.S. National Library of Medicine. EuroCareFinder is not endorsed by the National Library of Medicine. MeSH version: 2026.