Melnick–Needles syndrome
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 on Genetics Home Reference
- Melnick-Needles syndrome on National Organization for Rare Disorders
Melnick–Needles syndrome Resources | |
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Contributors: Prab R. Tumpati, MD