Yemenite Deaf-Blind Hypopigmentation Syndrome

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Retrieved
2021-01-18
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Yemenite deaf-blind hypopigmentation syndrome is a condition caused by a mutation on the SRY-related HMG-box gene 10 (not SOX10).

It was characterized in 1990, after being seen in two siblings from Yemen who presented with a "hitherto undescribed association of microcornea, colobomata of the iris and choroidea, nystagmus, severe early hearing loss, and patchy hypo- and hyperpigmentation." Some sources affirm SOX10 involvement.

See also

  • ABCD syndrome
  • List of cutaneous conditions