MNS
MCID: MLN014
MIFTS: 44

Melnick-Needles Syndrome (MNS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases categories
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Summaries for Melnick-Needles Syndrome

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43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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. last updated: 11/3/2010

MalaCards: Melnick-Needles Syndrome, also known as osteodysplasty of melnick and needles, is related to frontometaphyseal dysplasia and serpentine fibula polycystic kidney syndrome, and has symptoms including vesicorenal/vesicoureteral reflux, cardiac septal defect and facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy. An important gene associated with Melnick-Needles Syndrome is FLNA (filamin A, alpha). Affiliated tissues include bone, kidney and heart.

Genetics Home Reference:21 Melnick-Needles syndrome is a 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 also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, and frontometaphyseal dysplasia. In general, these disorders 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).

Description from OMIM:47 309350

Aliases & Classifications for Melnick-Needles Syndrome

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43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
melnick-needles syndrome:
Inheritance: X-linked dominant; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

melnick-needles syndrome 43 20 22 21 47 45 49 62
osteodysplasty of melnick and needles 43 21
melnick-needles osteodysplasty 43 21
mns 43 21
osteodysplasty, melnick-needles type 49


External Ids:

SNOMED-CT via Orphanet59 13449007
OMIM47 309350
ICD10 via Orphanet26 Q77.8
UMLS via Orphanet63 C0025237

Related Diseases for Melnick-Needles Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Melnick-Needles Syndrome:



Diseases related to melnick-needles syndrome

Symptoms for Melnick-Needles Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

309350

Clinical features from OMIM:

309350

Symptoms:

49 (show all 38)
  • vesicorenal/vesicoureteral reflux
  • cardiac septal defect
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • rib structure anomalies
  • x-linked dominant inheritance
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • long hand/arachnodactyly
  • large fontanelle/delayed fontanelle closure
  • anodontia/oligodontia/hypodontia
  • proptosis/exophthalmos
  • terminal/third phalangeal bone of fingers hypoplasia
  • clavicle absent/abnormal
  • omphalocele/exomphalos
  • hypoplastic mandibula/partial absence of the mandibula
  • long foot/arachnodactyly of toes
  • stillbirth/neonatal death
  • short rib cage/thorax
  • hyperextensible joints/articular hyperlaxity
  • prominent supraorbital ridge
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • hearing loss/hypoacusia/deafness
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • scoliosis
  • hypertelorism
  • bowed diaphysis/diaphyses/long bones
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • repeat respiratory infections
  • narrow rib cage/thorax
  • metaphyseal anomaly
  • metacarpal anomalies/archibald's sign
  • micrognathia/retrognathia/micrognathism/retrognathism
  • broad cheeks/cherub-like/cherubin face
  • short stature/dwarfism/nanism
  • cortical anomaly/thick bone cortical layer
  • abnormal vertebral size/shape
  • frontal bossing/prominent forehead

Drugs & Therapeutics for Melnick-Needles Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Melnick-Needles Syndrome

Search NIH Clinical Center for Melnick-Needles Syndrome

Genetic Tests for Melnick-Needles Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Melnick-Needles Syndrome:

id Genetic test Affiliating Genes
1 Melnick-Needles Syndrome20 22

Anatomical Context for Melnick-Needles Syndrome

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33MalaCards
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MalaCards organs/tissues related to Melnick-Needles Syndrome:

33
Bone, Kidney, Heart, Eye, Lung

Animal Models for Melnick-Needles Syndrome or affiliated genes

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Publications for Melnick-Needles Syndrome

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52PubMed
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Articles related to Melnick-Needles Syndrome:

(show all 45)
idTitleAuthorsYear
1
Correction of spine deformity in patients with Melnick-needles syndrome: report of 2 cases and literature review. (23389572)
2013
2
Orthognathic surgery in Melnick-Needles-Syndrome. Case report and review of the literature. (22014680)
2012
3
Mandibular distraction osteogenesis reconstructed the upper airway in a case of Melnick-Needles syndrome. (20437066)
2011
4
Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome. (20186808)
2010
5
Chronic temporomandibular joint dislocation by mandibular distraction in a patient with Melnick-needles syndrome. (20072009)
2010
6
Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome. (21031081)
2010
7
Melnick-Needles syndrome associated with growth hormone deficiency: a case report. (21274303)
2009
8
Mandibular distraction osteogenesis in a patient with Melnick-Needles syndrome. (18216701)
2008
9
Audiological outcomes after cochlear implantation in a patient with Melnick-Needles syndrome. (18568526)
2008
10
Melnick-Needles Syndrome: report of a case associated with bilateral hypoplasia of the cochlea. (17569979)
2007
11
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. (16926860)
2007
12
The high-resolution chest CT findings in an adult with Melnick-Needles syndrome. (16919559)
2006
13
Melnick-Needles syndrome with obstructive sleep apnea successfully treated with nasal continuous positive airway pressure ventilation. (16440074)
2006
14
Melnick-Needles syndrome and GH-deficiency: a possible new association feature. (16402013)
2005
15
Fibular lengthening procedure: treatment for lateral instability of the ankle caused by fibular insufficiency in Melnick-Needles syndrome. (15076585)
2004
16
Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear. (11857561)
2002
17
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. (10706363)
2000
18
Infant with manifestations of oto-palato-digital syndrome type II and of Melnick-Needles syndrome. (10377016)
1999
19
Clinical and radiological aspects in Melnick-Needles syndrome. (10513069)
1999
20
Noncompaction of the ventricular myocardium in Melnick-Needles syndrome. (9215772)
1997
21
Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in a four-generation kindred. (9268106)
1997
22
Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome. (9409862)
1997
23
Melnick-Needles syndrome in a mother and her son. (8831131)
1996
24
Melnick Needles syndrome. (8635812)
1995
25
Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report. (7778598)
1995
26
Emergency tracheostomy in a patient with Melnick-Needles syndrome and sleep apnoea. (15125292)
1993
27
Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders. (8276023)
1993
28
Case report 717. Osteodysplasty (Melnick-Needles syndrome). (1566112)
1992
29
Melnick-Needles syndrome. Four new cases. (1523045)
1992
30
Urological manifestations of the Melnick-Needles syndrome: a case report and review of the literature. (2016783)
1991
31
Mitral valve and tricuspidal valve prolapse in Melnick-Needles syndrome. (1743220)
1991
32
Melnick-Needles syndrome (osteodysplasty) in an older male--report of a case and a review of the literature. (1913051)
1991
33
Serpentine fibula--polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity? (3409932)
1988
34
Hyperlaxity in males with Melnick-Needles syndrome. (3377003)
1988
35
Melnick-Needles syndrome in males. (3605193)
1987
36
Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome. (3605194)
1987
37
Melnick-Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity. (3793511)
1986
38
The nature of the mandibular lesion in Melnick-Needles syndrome. (6695089)
1984
39
Melnick-Needles syndrome: osteodysplasty with kyphoscoliosis. (6874941)
1983
40
Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome). (7158644)
1982
41
Osteodysplasty (Melnick-Needles syndrome) in a male. (7163256)
1982
42
Melnick-Needles syndrome: indication for an autosomal recessive form. (7158646)
1982
43
Melnick-Needles syndrome: radiographic alterations in the mandible. (663242)
1978
44
Melnick-Needles syndrome. (105122)
1978
45
Osteodysplastia (Melnick-Needles syndrome). Radiological quiz. (847141)
1977

Variations for Melnick-Needles Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Melnick-Needles Syndrome:

64
id Symbol AA change Variation ID SNP ID
1FLNAp.Ala1188ThrVAR_015703rs28935472
2FLNAp.Ser1199LeuVAR_015704rs28935473
3FLNAp.Asp1184GluVAR_015720

Clinvar genetic disease variations for Melnick-Needles Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1FLNANM_001110556.1(FLNA): c.3562G> A (p.Ala1188Thr)single nucleotide variantPathogenicrs28935472GRCh37Chr X, 153588601: 153588601
2FLNANM_001110556.1(FLNA): c.3596C> T (p.Ser1199Leu)single nucleotide variantPathogenicrs28935473GRCh37Chr X, 153588567: 153588567
3FLNANM_001110556.1(FLNA): c.3552C> A (p.Asp1184Glu)single nucleotide variantPathogenicrs80338837GRCh37Chr X, 153588611: 153588611

Expression for genes affiliated with Melnick-Needles Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Melnick-Needles Syndrome

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Pathways for genes affiliated with Melnick-Needles Syndrome

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Compounds for genes affiliated with Melnick-Needles Syndrome

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GO Terms for genes affiliated with Melnick-Needles Syndrome

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Products for genes affiliated with Melnick-Needles Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Melnick-Needles Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet