Alopecia, epilepsy, pyorrhea, mental subnormality
Alternate names
Alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality; Shokeir syndrome; Congenital universal alopecia, epilepsy, mental subnormality and pyorrhea
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.
NIH genetic and rare disease info
Alopecia, epilepsy, pyorrhea, mental subnormality is a rare disease.
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