H syndrome

Definition:

The H syndrome is an autosomal-recessive condition characterized by the association of cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, sensorineural hearing loss, hypogonadism, short stature, and hyperglycemia. Anomalies such as hallux valgus and fixed flexion contractures of the toe and finger joints are additional clinical findings.

References:

[1]. T P Priya, et al. H syndrome: novel and recurrent mutations in SLC29A3. Br J Dermatol. 2010 May;162(5):1132-4. [Content Brief]

[2]. Vered Molho-Pessach, et al. The H syndrome is caused by mutations in the nucleoside transporter hENT3. Am J Hum Genet. 2008 Oct;83(4):529-34. [Content Brief]

[3]. Vered Molho-Pessach, et al. The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations. J Am Acad Dermatol. 2008 Jul;59(1):79-85. [Content Brief]

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