Symptoms of Holoprosencephaly


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General information about symptoms of Holoprosencephaly: The symptom information on this page attempts to provide a list of some possible symptoms of Holoprosencephaly. This symptom information has been gathered from various sources, may not be fully accurate, and may not be the full list of symptoms of Holoprosencephaly. Furthermore, symptoms of Holoprosencephaly may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of symptoms and whether they are indeed symptoms of Holoprosencephaly.

List of symptoms of Holoprosencephaly: The list of symptoms mentioned in various sources for Holoprosencephaly includes:

Symptoms of Holoprosencephaly: the disorder consists of a spectrum of defects or malformations of the brain and face. Most cases are associated with severe malformations of the brain which are incompatible with life and often cause spontaneous intrauterine death. At the other end of the spectrum are individuals with facial defects -- which may affect the eyes, nose, and upper lip -- and normal or near-normal brain development. Seizures and mental retardation may occur. The most severe of the facial anomalies is cyclopia, an abnormality characterized by a single eye, located in the area normally occupied by the root of the nose, and a missing nose or a nose in the form of a proboscis (a tubular appendage), located above the eye. Ethmocephaly is the least common facial anomaly. It consists of a proboscis separating narrow-set eyes with an absent nose and microphthalmia (abnormal smallness of one or both eyes). Cebocephaly, another facial anomaly, is characterized by a small, flattened nose with a single nostril situated below incomplete or underdeveloped closely set eyes. The least severe in the spectrum of facial anomalies is the median cleft lip also called premaxillary agenesis. 1

More symptoms of Holoprosencephaly: In addition to the above information, to get a full picture of the possible symptoms of this condition and its related conditions, it may be necessary to examine symptoms that may be caused by complications of Holoprosencephaly, underlying causes of Holoprosencephaly, associated conditions for Holoprosencephaly, risk factors for Holoprosencephaly, or other related conditions.

Medical articles on symptoms: These general reference articles may be of interest:



Footnotes:
1. excerpt from NINDS Holoprosencephaly Information Page: NINDS

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