Alopecia, epilepsy, pyorrhea, mental subnormality
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1008
Definition
A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
80%-99% of people have these symptoms.
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30%-79% of people have these symptoms.
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| Cerebral hemorrhage |
| Seizures |
5%-29% of people have these symptoms.
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| Hydrocephalus |
| Delayed eruption of permanent teeth |
| Metatarsus adductus |
| Hearing impairment |
| Melanocytic nevus |
An unknown % of people have these symptoms.
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Calabasas, CA, 91301-1502, United States Email: info-ahla@americanhairloss.org Url: http://americanhairloss.org
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