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
The intellectual deficit usually is mild. Reduced fertility is secondary to
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
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
Allen RJ: Neurocutaneous syndromes in children. Postgrad Med
Jackson CE, Weiss L, Watson JH: “Brittle” hair with short stature,
intellectual impairment and decreased fertility: An autosomal recessive
syndrome in an Amish kindred. Pediatrics