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Diseases

Genetic and Rare Diseases Information Center (GARD)

Melnick-Needles syndrome


Other Names for this Disease
  • Melnick-Needles osteodysplasty
  • MNS
  • Osteodysplasty of Melnick and Needles
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Overview

Melnick-Needles syndrome is a rare disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which typically involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits). Melnick-Needles syndrome is usually the most severe of the otopalatodigital spectrum disorders.  This condition is caused by a mutation in the FLNA gene, and it has X-linked dominant inheritance.[1]
Last updated: 4/30/2015

References

  1. Melnick-Needles syndrome. Genetics Home Reference. November 2007; http://ghr.nlm.nih.gov/condition/melnick-needles-syndrome. Accessed 11/2/2010.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Melnick-Needles syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Melnick-Needles syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Other Names for this Disease
  • Melnick-Needles osteodysplasty
  • MNS
  • Osteodysplasty of Melnick and Needles
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.