Alopecia-epilepsy-pyorrhea-intellectual disability syndrome

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.

Micrognathia

Developmental hypoplasia of the mandible.

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PMID (PMCID)
20938779	MIXED_SAMPLE	Adult
	Antenatal ultrasound and MRI findings of Pena-Shokeir syndrome.
	Gupta P, Sharma JB, Sharma R, Gadodia A, Kumar S, Roy KK. Arch Gynecol Obstet. 2011;283 Suppl 1:27-9.
	Pena-Shokeir syndrome is an autosomal recessive disorder characterized by arthrogryposis, facial anomalies (micrognathia), camptodactyly, polyhydramnios and lung hypoplasia.