Yemenite deaf-blind hypopigmentation syndrome
Synonyms
1
Overview
Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.
Symptoms
- cutaneous patchy hypo- and hyperpigmentation on the trunk and extremities
- gray hair
- white brows and lashes
- nystagmus
- microcornea
- coloboma
- abnormalities of the anterior chamber of the eye
- severe hearing loss and dental abnormalities.
Causes
The cause of this syndrome has not been determined. The inheritance pattern appears to be autosomal recessive.
Diagnosis
During a consultation, your doctor will use various techniques in his assesment of the symptom: Hypopigmentation. These may include a physical examination or other medical tests. Your doctor may ask several questions when assessing your condition. It is important to remember that your consultation is a two-way process and any extra information you can share with your doctor may help them with their diagnosis.
Resources
See Research Publications