Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Osteodysplasty, Melnick-Needles type

Orpha number ORPHA2484
Synonym(s) Melnick-Needles syndrome
Prevalence <1 / 1 000 000
Inheritance X-linked dominant
Age of onset Childhood
ICD-10
  • Q77.8
ICD-O -
OMIM
UMLS
  • C0025237
MeSH -
MedDRA
  • 10060908
SNOMED CT
  • 13449007

Summary

Melnick-Needles syndrome (MNS) is a rare disorder marked by the association of skeletal dysplasia (with bowing of long bones, sclerosis of the skull base and ribbon-like ribs), and a characteristic face (hirsute forehead, prominent supraorbital ridges, prominent eyes, full cheeks and marked micrognathia). Mental development is not affected. Ear and chest infections are common during childhood; they can lead to complications like hearing loss. About 50 cases have been reported, most of them are sporadic. The disease is lethal in males. A distinct embryopathy has been described in males and is characterised by exophtalmos, omphalocele and/or malrotation of the gut and major skeletal anomalies (thin calvaria, curved, long bones, absence of thumb, and vertebral column anomalies). This syndrome belongs to the phenotypic spectrum of fronto-oto-palato-digital osteodyplasia, which encompasses oto-palato-digital syndrome type 1 and 2, MNS and frontometaphyseal dysplasia. These syndromes are X-linked disorders with a weaker expression in carrier females, and are all are due to mutations in the FLNA gene, encoding the cytoskeletal protein filamin A. The pathophysiology of MNS remains unknown. Prenatal diagnosis of a male foetus in a woman with MNS has been described. Prognosis is variable, it depends on sex and the signs present. Multidisciplinary management must be adapted to each patient (orthopaedic, ear, nose and throat, paediatric, genetic counselling, etc.).


(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Detailed information

Clinical genetics review
  • EN (2013)
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.