Surf Wiki
Save to docs
general/rare-genetic-syndromes

From Surf Wiki (app.surf) — the open knowledge base

Melnick–Needles syndrome

X-linked dominant disorder that affects primarily bone development

X-linked dominant disorder that affects primarily bone development

FieldValue
nameMelnick–Needles syndrome
synonymsMelnick–Needles osteodysplasty
imageX-linked dominant (affected mother).svg
captionThis condition is inherited in an X-linked dominant manner.
differentialMultiple epiphyseal dysplasia

Melnick–Needles syndrome (MNS), also known as Melnick–Needles osteodysplasty, is an extremely rare congenital disorder that affects primarily bone development. Patients with Melnick–Needles syndrome have typical faces (exophthalmos, full cheeks, micrognathia and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of bones of legs, irregular constrictions in the ribs, and sclerosis of base of skull.

In males, the disorder is nearly always lethal in infancy. Lifespan of female patients might not be affected.

Melnick–Needles syndrome is associated with mutations in the FLNA gene and is inherited in an X-linked dominant manner. As with many genetic disorders, there is no known cure to MNS.

The disorder was first described by John C. Melnick and Carl F. Needles in 1966 in two multi-generational families.

Signs and symptoms

Craniofacial

Melnick–Needles syndrome causes distinctive craniofacial abnormalities. These include full cheeks, a prominent forehead, severe micrognathia and retrognathia. The later two features can cause patients to have difficulty eating and speaking. Other complications that can arise from micrognathia include obstructive sleep apnea, upper airway restriction, increased susceptibility to pneumonia and occasionally even respiratory failure

Skeletal

Individuals with Melnick-Needles typically have a small rib cage and narrow shoulders. The ribs themselves are "ribbon" like and the clavicles are unusually short. The lower portion of the chest appears hollow. Spinal abnormalities may also occur (pectus excavatum). Kyphoscoliosis is common.

S-like curvature of the leg bones is another feature of Melnick–Needles syndrome. The connection between the femur and hip bone may be misaligned, causing an unusual gait. The ilium can be flared and the unusually shape of the pelvis in patients with Melnick–Needles syndrome can make childbirth difficult for affected females.

Other potential symptoms

Other abnormalities associated with Melnick–Needles syndrome include blue sclera, strabismus, bilateral exophthalmus, conductive hearing loss, mitral valve prolapse, tricuspid valve prolapse, bowel malrotation and hydronephrosis. Prune belly syndrome and omphalocele have been observed in lethally affected males.

Prognosis

Females with Melnick–Needles syndrome may display various clinical characteristics of the disease. Symptoms can vary widely even between members of the same family.

Males with Melnick–Needles syndrome experience considerably more severe symptoms than females. As a result, they are often stillborn or die shortly after birth. However, survival is possible in males if mosaicism is present.

References

References

  1. {{OMIM. 309350
  2. (2003). "Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans". Nature Genetics.
  3. (2010). "Expansion of the Spectrum of ''FLNA'' Mutations Associated with Melnick-Needles Syndrome". S. Karger AG.
  4. (1966). "An Undiagnosed Bone Dysplasia". American Journal of Roentgenology.
  5. "Melnick-Needles Syndrome". Orphanet.
  6. "Melnick Needles Syndrome". National Organisation for Rare Disorders.
  7. "Melnick-Needles Syndrome". Orphanet.
  8. "Melnick Needles Syndrome".
  9. "Melnick-Needles Syndrome". Orphanet.
  10. (2010). "Expansion of the Spectrum of ''FLNA'' Mutations Associated with Melnick-Needles Syndrome". S. Karger AG.
  11. "Melnick-Needles Syndrome". MedlinePlus.
  12. "Melnick-Needles Syndrome". Orphanet.
Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

rare-genetic-syndromes syndromes-with-craniofacial-abnormalities syndromes-affecting-the-jaw
Want to explore this topic further?

Ask Mako anything about Melnick–Needles syndrome — get instant answers, deeper analysis, and related topics.

Research with Mako

Free with your Surf account

Content sourced from Wikipedia, available under CC BY-SA 4.0.

This content may have been generated or modified by AI. CloudSurf Software LLC is not responsible for the accuracy, completeness, or reliability of AI-generated content. Always verify important information from primary sources.

Report