Melnick–Needles syndrome

From WikiMD's Wellness Encyclopedia

Melnick–Needles syndrome (MNS) is a rare genetic disorder characterized by distinctive skeletal abnormalities and other physical features. It was first described in 1966 by American physicians Joel Melnick and Robert Needles.

Etymology[edit | edit source]

The syndrome is named after the physicians Joel Melnick and Robert Needles who first described the condition in 1966.

Signs and Symptoms[edit | edit source]

People with Melnick–Needles syndrome often have a characteristic facial appearance that includes a prominent forehead (frontal bossing), widely spaced eyes (hypertelorism), full cheeks, and a pointed chin. Other features can include hearing loss, eye abnormalities, and respiratory problems.

Causes[edit | edit source]

Melnick–Needles syndrome is caused by mutations in the FLNA gene. This gene provides instructions for making a protein called filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move.

Diagnosis[edit | edit source]

Diagnosis of Melnick–Needles syndrome is based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis.

Treatment[edit | edit source]

Treatment of Melnick–Needles syndrome is symptomatic and supportive. It may include physical therapy, surgery to correct bone abnormalities, and regular monitoring for potential complications.

Prognosis[edit | edit source]

The prognosis for individuals with Melnick–Needles syndrome varies. Some individuals have a normal lifespan, while others may have life-threatening complications.

Epidemiology[edit | edit source]

Melnick–Needles syndrome is a rare disorder. The exact prevalence is unknown.

See Also[edit | edit source]

References[edit | edit source]


External Links[edit | edit source]

Melnick–Needles syndrome Resources
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Contributors: Prab R. Tumpati, MD