Woolly hair hypotrichosis everted lower lip outstanding ears

Woolly Hair Hypotrichosis Everted Lower Lip Outstanding Ears is a rare genetic disorder characterized by a distinct set of physical features. These features include woolly hair, which is tightly coiled and of abnormal texture, hypotrichosis (reduced hair growth on the scalp), an everted lower lip, and outstanding (prominent) ears. This condition is part of a group of hair disorders that affect the texture and growth patterns of scalp hair.

Causes

The disorder is believed to be genetic in nature, often passed down through families in an autosomal recessive manner. This means that a child must inherit one copy of the mutated gene from each parent to be affected. The specific genes involved in Woolly Hair Hypotrichosis Everted Lower Lip Outstanding Ears have not been fully identified, making the molecular basis of the condition still a subject of research.

Symptoms

Individuals with this condition exhibit several key symptoms:

• Woolly Hair: Hair that is tightly coiled, fine, and often described as being wool-like in texture.
• Hypotrichosis: Reduced hair density that primarily affects the scalp.
• Everted Lower Lip: The lower lip is turned outward, which is a distinctive facial feature of this disorder.
• Outstanding Ears: Ears that are more prominent or stick out more than usual.

Other symptoms may vary among individuals and can include dental anomalies, nail abnormalities, and other dermatological issues.

Diagnosis

Diagnosis of Woolly Hair Hypotrichosis Everted Lower Lip Outstanding Ears is primarily based on the physical examination and the presence of the characteristic features. Genetic testing may be helpful in confirming the diagnosis, especially in cases where the genetic cause is known.

Treatment

There is no cure for Woolly Hair Hypotrichosis Everted Lower Lip Outstanding Ears, and treatment is symptomatic and supportive. Management may include:

• Dermatological care for hair and skin issues.
• Dental care for any dental anomalies.
• Counseling and support for dealing with the psychological impact of the disorder.

Prognosis

The prognosis for individuals with Woolly Hair Hypotrichosis Everted Lower Lip Outstanding Ears largely depends on the presence and severity of associated symptoms. The condition itself does not typically affect lifespan, but quality of life can be impacted by the cosmetic and psychological aspects of the disorder.

See Also

• Genetic disorder
• Hypotrichosis
• Autosomal recessive inheritance

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