Curry–Hall syndrome
Curry–Hall Syndrome is a rare genetic disorder that affects multiple aspects of an individual's health and development. This condition is characterized by a range of symptoms and physical anomalies, including but not limited to, polydactyly (extra fingers or toes), nail dysplasia, dental anomalies, and distinct facial features. The syndrome is part of a broader category of disorders known as Acrofacial Dysostosis syndromes, which primarily affect the limbs and face.
Etiology
The exact genetic cause of Curry–Hall Syndrome remains largely undefined. However, it is believed to follow an Autosomal Dominant inheritance pattern. This means that only one copy of the altered gene in each cell is sufficient to cause the disorder. The variability and severity of the symptoms can differ significantly even among members of the same family.
Symptoms
Individuals with Curry–Hall Syndrome may exhibit a wide range of symptoms, including:
- Polydactyly - the presence of extra fingers or toes.
- Nail Dysplasia - abnormal nail formation.
- Dental anomalies - including missing or extra teeth, and misshapen teeth.
- Distinct facial features - such as a broad nose, wide mouth, or cleft lip/palate.
- Growth delays and intellectual disability may also be present in some cases.
Diagnosis
Diagnosis of Curry–Hall Syndrome is primarily based on physical examination and the identification of characteristic symptoms. Genetic testing may help in confirming the diagnosis, although the specific gene associated with this syndrome has not been identified. Prenatal testing may be available for families with a known history of the condition.
Treatment
There is no cure for Curry–Hall Syndrome, and treatment is symptomatic and supportive. This may include:
- Surgical correction of physical anomalies such as polydactyly or cleft palate.
- Dental care to address dental anomalies.
- Supportive therapies such as physical therapy, occupational therapy, and speech therapy to help with developmental delays.
Prognosis
The prognosis for individuals with Curry–Hall Syndrome varies depending on the severity of symptoms. With appropriate medical and supportive care, most individuals can lead a relatively normal life. However, they may require ongoing treatment and support for physical and developmental challenges.
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Contributors: Prab R. Tumpati, MD