Carey Fineman Ziter syndrome
Carey Fineman Ziter syndrome is a rare congenital disorder characterized by a combination of distinctive facial features, intellectual disability, and physical abnormalities. The syndrome was first described in 1982 by Dr. David Carey, Dr. Michael Fineman, and Dr. Robert Ziter.
Symptoms and Signs[edit | edit source]
The most common features of Carey Fineman Ziter syndrome include microcephaly (small head size), hypotonia (low muscle tone), myopathy (muscle weakness), ptosis (drooping of the upper eyelid), and distinctive facial features such as a high forehead, long face, and prominent chin. Intellectual disability is also common, and can range from mild to severe. Other features can include feeding difficulties, respiratory problems, and skeletal abnormalities.
Causes[edit | edit source]
Carey Fineman Ziter syndrome is caused by mutations in the MYMK gene. This gene provides instructions for making a protein that is involved in the development and function of muscles. Mutations in the MYMK gene disrupt the normal development and function of muscles, leading to the characteristic features of Carey Fineman Ziter syndrome.
Diagnosis[edit | edit source]
Diagnosis of Carey Fineman Ziter syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying a mutation in the MYMK gene.
Treatment[edit | edit source]
There is currently no cure for Carey Fineman Ziter syndrome. Treatment is supportive and based on the signs and symptoms present in each individual. This can include physical therapy for muscle weakness, special education services for intellectual disability, and management of respiratory problems.
Prognosis[edit | edit source]
The prognosis for individuals with Carey Fineman Ziter syndrome varies depending on the severity of symptoms. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications such as respiratory problems.
See Also[edit | edit source]
References[edit | edit source]
NIH genetic and rare disease info[edit source]
Carey Fineman Ziter syndrome is a rare disease.
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