H syndrome

This syndrome has a number of different clinical features many of which start with the letter 'H' giving rise to the name of the syndrome. These features include • Hyperpigmentation • Hypertrichosis • Hepatosplenomegaly • Hearing loss • Heart anomalies • Hypogonadism • Low height (short stature) • Hyperglycemia/diabetes mellitus • Hallux valgus/flexion contractures Exophthalmos, malabsorption and renal anomalies have also been reported. ==Genetics==

The SLC29A3 gene is located on the long arm of chromosome 10 (10q22).The causative gene was identified in 2010. ==Pathogenesis==

This is not understood at present. ==Diagnosis==

There is no curative treatment for this condition at present. Management is directed to the clinical features. ==History==

This condition was first described in 1998. ==References==