Melnick-Needles syndrome

Common Name(s)

Melnick-Needles syndrome

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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Melnick-Needles syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Melnick-Needles syndrome" returned 3 free, full-text research articles on human participants. First 3 results:

Melnick-Needles syndrome associated with growth hormone deficiency: a case report.
 

Author(s): Leyla Akın, Erdal Adal, Mustafa Ali Akın, Selim Kurtoğlu

Journal: J Clin Res Pediatr Endocrinol. 2009 ;1(5):248-51.

 

Melnick-Needles syndrome is an X-linked dominant bone dysplasia characterized by a typical facies (exophthalmos, full cheeks, micrognathia, and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of the lower extremities, irregular constriction in the ...

Last Updated: 28 Jan 2011

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Melnick-Needles Syndrome: report of a case associated with bilateral hypoplasia of the cochlea.
 

Author(s): J C Belfield, J S Witana, D J A Connolly

Journal: AJNR Am J Neuroradiol. ;28(6):1160-1.

 

Melnick-Needles Syndrome is a rare disorder associated with many abnormalities. This case report describes a patient with Melnick-Needles Syndrome who was found to have bilateral hypoplasia of the cochlea, a finding not previously described in the literature. The case report describes ...

Last Updated: 15 Jun 2007

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Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.
 

Author(s): Stephen P Robertson

Journal: Eur. J. Hum. Genet.. 2007 Jan;15(1):3-9.

 

The term otopalatodigital syndrome spectrum disorders is an umbrella category that includes four phenotypically related conditions, otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick - Needles syndrome. The phenotype of these conditions in the male ranges ...

Last Updated: 14 Dec 2006

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Reviews from the PubMed Database

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The terms "Melnick-Needles syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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