Also known as: Melnick-needles Osteodysplasty
Melnick-Needles syndrome is a rare condition almost exclusively found in females, with a small number of severely affected males also reported.
Last updated May 2019 by Professor Stephen Robertson, Curekids Professor of Paediatric Genetics, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
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The condition in females is characterised by thickening (sclerosis) of a number of bones in the body. This leads to deformity in the bones, especially in the skull, pelvis and long bones of the arms and legs, and short stature. Secondary osteoarthritis may occur. Other features may vary in the child but may include scoliosis, kyphosis (forward curvature) of the spine, and a small rib cage with the ribs distorted in shape. Ear and chest infections are common. Obstructions of the urinary tract are also common, and deafness and cardiac abnormalities have occasionally been described. Cognitive performance is not affected.
Some males have been described with the condition, but confirmation by a molecular diagnostic test has only been reported in three instances.
Melnick-Needles syndrome is caused by mutations in a gene called FLNA on the X chromosome. There are two very common recurrent mutations within this gene that cause the condition, with a small number of other mutations accounting for the rest of the individuals with this condition.
A combination of clinical assessment, radiography and molecular analysis of FLNA is required to make the diagnosis.
Treatment is supportive and based on symptoms. In particular, orthopaedic surgery can be required to preserve or restore function to the spine and affected joints. Jaw distraction can be required to correct micrognathia (undersized jaw), which can otherwise impair breathing.
Most cases are sporadic and caused by a newly arising mutation in FLNA, although occasional transmission of the disorder from mother to child has been described.
Prenatal diagnosis is possible using DNA diagnosis.
Melnick Needles Syndrome Support Group
Tel: 01424 217 790
The Group is a support network established in 1994. It provides information and support to individuals and families affected by Melnick-Needles syndrome, and raises awareness of the condition.
Group details last updated December 2014.