Amish Hair-Brain Syndrome

Inherited syndrome with mild psychomotor retardation, hypogonadism, short stature, brittle hair.

Amish Brittle Hair Syndrome; BIDS; Brittle Hair, Intellectual Deficit, Decreased Fertility, and Short Stature Syndrome.

Initially described in 25 children of an Amish kindred with autosomal recessive transmission.

The most striking signs are brittle hair and short stature. The hair defect is secondary to a markedly reduced cystine content resulting in lack of sulfur-rich matrix proteins. The microscopic appearance of the hair shows an irregular and grooved surface. The same underlying defect seems to be responsible for nail dystrophy (brittle, short nails).

The intellectual deficit usually is mild. Reduced fertility is secondary to hypogonadism.

Obtain a full history of the patient's neurologic status. Depending on the severity of mental retardation, the patient may benefit from anxiolytic premedication. No specific anesthetic considerations.

Brittle Hair and Mental Deficit Syndrome: Genetic disorder characterized by abnormal hair fibers and mental deficiency.

Pollitt Syndrome: Inherited syndrome with developmental delay and trichorrhexis nodosa.

Netherton Syndrome: Most likely autosomal recessive transmitted inborn error of metabolism that manifests with bamboo hair, atopic diathesis, congenital ichthyosiform erythroderma, and hypogammaglobulinemia.