Scalp ear nipple syndrome
Scalp Ear Nipple Syndrome
Scalp Ear Nipple Syndrome (pronunciation: /skælp ɪər ˈnɪpəl sɪnˈdroʊm/), also known as Finlay-Marks Syndrome, is a rare genetic disorder characterized by abnormalities in the scalp, ears, and nipples.
Etymology
The term "Scalp Ear Nipple Syndrome" is derived from the three primary areas of the body that are affected by this condition. The syndrome is also named after the researchers Finlay and Marks who first described the condition in medical literature.
Symptoms
The symptoms of Scalp Ear Nipple Syndrome include:
- Scalp abnormalities: These may include sparse hair, abnormal skin development, and scalp defects.
- Ear abnormalities: These may include low-set ears, hearing loss, and ear malformations.
- Nipple abnormalities: These may include absent or underdeveloped nipples.
Causes
Scalp Ear Nipple Syndrome is caused by mutations in the KCTD1 gene. This gene provides instructions for making a protein that is involved in the development of the skin and its appendages, such as hair and nails.
Diagnosis
Diagnosis of Scalp Ear Nipple Syndrome is based on the presence of characteristic symptoms. Genetic testing can confirm the diagnosis by identifying a mutation in the KCTD1 gene.
Treatment
Treatment for Scalp Ear Nipple Syndrome is symptomatic and supportive. This may include surgical correction of physical abnormalities, hearing aids for hearing loss, and special education services for developmental delays.
Related Terms
External links
- Medical encyclopedia article on Scalp ear nipple syndrome
- Wikipedia's article - Scalp ear nipple syndrome
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