Orphanet: Alopecia epilepsy pyorrhea intellectual disability syndrome

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Alopecia-epilepsy-pyorrhea-intellectual disability syndrome

Disease 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.

ORPHA:1008

Classification level: Disorder

Synonym(s):
- Shokeir syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Neonatal
ICD-10: Q87.8
ICD-11: LD90.Y
OMIM: 104130
UMLS: C1863090
MeSH: C537057
GARD: 607
MedDRA: -

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Alopecia-epilepsy-pyorrhea-intellectual disability syndrome

ORPHA:1008

A summary on this disease is available in Deutsch (2015) Español (2015) Français (2015) Italiano (2015) Nederlands (2015)

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