Yemenite deaf-blind hypopigmentation syndrome

Yemenite deaf-blind hypopigmentation syndrome is a condition caused by a mutation on the SRY-related HMG-box gene 10. It was characterized in 1990 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.

Other names

Yemenite deaf-blind hypopigmentation syndrome, also known as "Yemenite deaf-blind hypopigmentary syndrome," is a rare genetic condition that affects the skin, hair, and eyes, in addition to the senses of hearing and sight. It is estimated to affect fewer than a few hundred people worldwide and is most prevalent among Jews of Yemenite descent.

Characteristics

The syndrome is characterized by hypopigmentation, resulting in lighter hair, skin, and eyes. In addition, the condition frequently causes visual and auditory impairments, such as blindness and deafness.

Cause

The exact cause of Yemenite deaf-blind hypopigmentation syndrome is unknown, but it is believed to be an autosomal recessive genetic disorder that is transmitted from parents to children. In order to develop the condition, an individual must inherit two copies of the gene, one from each parent.

Symptoms

The symptoms of Yemenite deaf-blind hypopigmentation syndrome are similar to those of other genetic conditions, making diagnosis difficult. The presence of the condition can be determined by a variety of tests, including genetic testing, eye exams, and hearing tests.

Cure

Presently, there is no cure for Yemenite deaf-blind hypopigmentation syndrome, but affected individuals can receive treatment and support to manage their symptoms. This may include medical and cosmetic treatments for the skin and hair, as well as vision and hearing rehabilitation services.

Prognosis

Despite being a rare condition, Yemenite deaf-blind hypopigmentation syndrome is not necessarily dangerous. Individuals with the condition can live full, productive lives if they receive adequate medical care and support.

See also

• ABCD syndrome
• List of cutaneous conditions

Yemenite deaf-blind hypopigmentation syndrome Resources
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