Other Names for this Disease
- Melnick-Needles osteodysplasty
- Osteodysplasty of Melnick and Needles
- Osteodysplasty, Melnick-Needles type
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.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 (
Last updated: 11/3/2010
- Melnick-Needles syndrome. Genetics Home Reference. November 2007; http://ghr.nlm.nih.gov/condition/melnick-needles-syndrome. Accessed 11/2/2010.
- Genetics Home Reference (GHR) contains information on the P2RY12 gene and its related conditions. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- 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.
- Robertson, et al. Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders. European Journal of Human Genetics (2006) 14, 549–554. published online 15 March 2006