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Genetic disorder characterized by abnormal hair fibers and mental deficiency.

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Sabinas Brittle Hair Syndrome.

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Unknown. Affected families have been found only in the remote village of Sabinas in northern Mexico.

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Most likely autosomal recessive inheritance. Affected families demonstrate parental consanguinity with the occurrence in siblings of both sexes, both of which support autosomal recessive inheritance.

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Examination of hair fibers demonstrates a reduction in the cuticular layer and a collapsed cortex. The cystine content of the hair is reduced, and the copper-to-zinc ratio is increased. No specific histopathologic changes in the central nervous system have been described.

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Made by clinical appearance and by morphologic and biochemical abnormalities of hair fibers. Affected newborns may be identified by persistent scalp hypotrichosis.

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Characterized by dry, brittle, fragile hair, developmental delay, and normal stature. Affected newborns may be identified by persistent scalp hypotrichosis. In the postpubertal period, individuals have reduced or virtually absent pubic and axillary hair. Onychodystrophy was noted in some patients. A variable degree of mental retardation has been described. The condition may be similar to Pollitt syndrome and Amish hair-brain syndrome. Both of these syndromes demonstrate autosomal recessive inheritance, abnormal hair, and associated mental retardation. However, the exact interrelationship of these three syndromes is unclear. New research found genetic heterogeneity between Amish-hair-brain syndrome on the one hand and Politt and Brittle hair deficit syndrome on the other hand.

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Obtain a full history of the patient's neurologic status. Patients may benefit from sedative premedication or, depending on the severity of their mental retardation, from the presence of the primary care-giver for induction of anesthesia.

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Amish Hair-Brain Syndrome: Inherited syndrome with mild psychomotor retardation, hypogonadism, short stature, and brittle hair.

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

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

Arbisser AI, Scott CI, Howell RR, et al: A syndrome manifested by brittle hair with morphologic and biochemical abnormalities, developmental delay and normal stature. Birth Defects Orig Artic Ser 12:219, 1976.  [PubMed: 953226]
Howell RR, Arbisser AI, Parsons DS, et al: The Sabinas syndrome. Am J Hum Genet 33:957, 1981.  [PubMed: 7325159]
Nakabayashi K, Amann D, Ren Y, et al: Identification of CTorf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. Am J Hum Genet 76:510, 2005.  [PubMed: 15645389]

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