CHIME syndrome
CHIME syndrome (pronounced as /kaɪm/), also known as Zunich neuroectodermal syndrome, is a rare genetic disorder first described by Zunich and Kaye in 1983. The name CHIME is an acronym derived from the primary symptoms of the syndrome: Colobomas, Heart defects, Ichthyosiform dermatosis, Mental retardation, and Ear abnormalities.
Etymology
The term CHIME is an acronym that stands for the primary symptoms of the syndrome: Colobomas, Heart defects, Ichthyosiform dermatosis, Mental retardation, and Ear abnormalities. The syndrome is also known as Zunich neuroectodermal syndrome, named after the doctors who first described the condition.
Symptoms
The symptoms of CHIME syndrome include:
- Colobomas: These are gaps in parts of the eye's structure, often appearing as a keyhole or cat-eye shape in the pupil.
- Heart defects: These can range from minor anomalies to severe congenital heart defects.
- Ichthyosiform dermatosis: This is a skin condition that causes the skin to become dry, scaly, and thickened.
- Mental retardation: This refers to below-average intellectual functioning and a lack of skills necessary for daily living.
- Ear abnormalities: These can include hearing loss or deformities of the ear structure.
Diagnosis
Diagnosis of CHIME syndrome is based on the presence of the characteristic symptoms. Genetic testing may also be used to confirm the diagnosis.
Treatment
Treatment for CHIME syndrome is symptomatic and supportive. This may include surgery for heart defects and colobomas, special education for mental retardation, and hearing aids for ear abnormalities.
See also
External links
- Medical encyclopedia article on CHIME syndrome
- Wikipedia's article - CHIME syndrome
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