Melnick-Needles syndrome

Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.

Skeletal dysplasia

A general term describing features characterized by abnormal development of bones and connective tissues.


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PMID (PMCID)
29575627
 MIXED_SAMPLE Adult
A recurrent mutation causing Melnick-Needles syndrome in females confers a severe, lethal phenotype in males.
Spencer C, Lombaard H, Wise A, Krause A, Robertson SP.
Am J Med Genet A. 2018;176(4):980-984.
Melnick-Needles syndrome (MNS; MIM 309350) is an X-linked skeletal dysplasia caused by mutations in FLNA.
29336932
 FEMALE Adult
Orthognathic surgery in Melnick-Needles syndrome: a review of the literature and report of two siblings.
O'Connell JE, Bourke B, Kearns GJ.
Int J Oral Maxillofac Surg. 2018;47(6):738-742.
Melnick-Needles syndrome (MNS) is a rare congenital X-linked dominant skeletal dysplasia, characterized by exophthalmos, a prominent forehead, and mandibular hypoplasia and retrognathism.
21712856
 FEMALE Child
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome.
Gray MJ, Kim CA, Bertola DR, Arantes PR, Stewart H, Simpson MA, Irving MD, Robertson SP.
Eur J Hum Genet. 2012;20(1):122-4.
The nosological classification of this disease has been debated as the condition shares features common to other skeletal dysplasias such as Melnick Needles syndrome (MNS; MIM309350) and Hajdu-Cheney Syndrome (HCS; MIM102500).
15940695
 FEMALE Adult
A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation.
Hidalgo-Bravo A, Pompa-Mera EN, Kofman-Alfaro S, Gonzalez-Bonilla CR, Zenteno JC.
Am J Med Genet A. 2005;136(2):190-3.
OPD1 belongs to a group of X-linked skeletal dysplasias known as oto-palato-digital syndrome spectrum disorders that also include OPD2, Melnick-Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD).
9268106
 MIXED_SAMPLE Infant, Newborn
Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in a four-generation kindred.
Robertson S, Gunn T, Allen B, Chapman C, Becroft D.
Am J Med Genet. 1997;71(3):341-7.
Melnick-Needles syndrome (MNS) is a female-limited skeletal dysplasia inherited in a X-linked dominant pattern.