Paula and Bobby
Parents of Lillie
Melnick-Needles syndrome (MNS)
What is Melnick-Needles syndrome (MNS)?
This rare disease is a genetic condition affecting mainly the bones. The main symptoms affect the skeletal and face.
Due to how the syndrome is inherited (X-linked dominant) the syndrome mainly affects females with affected males rarely surviving birth or infancy, so severely are they affected by the condition.
To data there have been 70 cases of this syndrome reported worldwide.
What gene changes cause Melnick-Needles syndrome (MNS)?
A change in the FLNA gene causes the syndrome.
It is inherited in an X-linked dominant pattern.
With syndromes inherited in an X-linked dominant pattern, a mutation in just one of the copies of the gene, causes the syndrome. This can be in one of the female X chromosomes, and in the one X chromosomes males have. Males tend to have more severe symptoms than females.
What are the main symptoms of Melnick-Needles syndrome (MNS)?
The unique facial features of the syndrome include widely spaced eyes, full cheeks, and a very small lower jaw. Slow development of the skull is also a feature.
Short upper arms and fingers are a symptom. As are bowed short bones in the arms and legs. A misalignment between the femur, or long bone of the leg and the hip may produce an unusual gait affecting mobility and walking. Dislocation of the hip is a not uncommon syndrome.
Other main symptoms include a small chest cavity, abnormal ribs, short collarbone and narrow shoulders. Skeletal and pelvic abnormalities may also be present.
Kidney issues, heart defects and high blood pressure in the lungs are also potential symptoms of the syndrome. Affected individuals may also be more susceptible to respiratory infections.
How does someone get tested for Melnick-Needles syndrome (MNS)?
The initial testing for Melnick-Needles syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
What is FDNA Telehealth?
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