Melnick–Needles syndrome

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Melnick–Needles syndrome
File:X-linked dominant (affected mother).svg
Synonyms	MNS
Pronounce
Specialty	Medical genetics
Symptoms	Skeletal dysplasia, craniofacial dysmorphism, hearing loss
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Mutations in the FLNA gene
Risks
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	Osteogenesis imperfecta, frontometaphyseal dysplasia
Prevention	N/A
Treatment	Symptomatic treatment, orthopedic surgery
Medication
Prognosis	Variable, depending on severity
Frequency	Rare
Deaths

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

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

Signs and Symptoms

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

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

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

Treatment

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

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

Epidemiology

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

See Also

• Genetic disorder
• FLNA
• Cytoskeleton

References

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External Links

• Melnick-Needles syndrome on Genetics Home Reference
• Melnick-Needles syndrome on National Organization for Rare Disorders

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