Carey Fineman Ziter syndrome

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Carey-Fineman-Ziter syndrome
File:Autosomal recessive - en.svg
Synonyms
Pronounce
Specialty	Medical genetics
Symptoms	Facial weakness, myopathy, Pierre Robin sequence, scoliosis, delayed motor development
Complications	N/A
Onset
Duration
Types
Causes	Mutations in the MYMK gene
Risks
Diagnosis	Genetic testing, clinical evaluation
Differential diagnosis
Prevention
Treatment	Supportive care, physical therapy, speech therapy
Medication
Prognosis
Frequency	Very rare
Deaths

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

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

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

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

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

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

• Congenital disorder
• Intellectual disability
• Microcephaly
• Myopathy
• Genetic disorder

NIH genetic and rare disease info

• NIH info on Carey Fineman Ziter syndrome

Carey Fineman Ziter syndrome is a rare disease.