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Melnick Needles Syndrome

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Jeffrey A. Wong, MD, FACC, Division of Pediatrics, Cedars-Sinai Medical Center and The Heart Center, Children's Hospital of Los Angeles, for assistance in the preparation of this report.

Synonyms of Melnick Needles Syndrome

  • Melnick-Needles osteodysplasty
  • MNS
  • osteodysplasty of Melnick and Needles

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Melnick-Needles syndrome (MNS) is a genetic disorder of bone characterized by skeletal abnormalities and a specific facial appearance. The skeletal abnormalities include bowing of long bones, s-curved leg bones, ribbon-like ribs and a hardening of the skull base. The typical facial features include prominent, protruding eyes, full cheeks, an extremely small lower jaw and a hairy forehead. The condition may affect many bones of the body causing deformity and in some cases short stature. MNS is thought to be inherited as an X-linked dominant genetic disorder.

Melnick Needles Syndrome Resources

Organizations:

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