MCID: MLN014
MIFTS: 38

Melnick-Needles Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Melnick-Needles Syndrome

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Aliases & Descriptions for Melnick-Needles Syndrome:

Name: Melnick-Needles Syndrome 50 46 23 24 52 68 25 12 48 66
Mns 46 23 24 68
 
Melnick-Needles Osteodysplasty 46 24 52
Osteodysplasty of Melnick and Needles 46 24

Characteristics:

Orphanet epidemiological data:

52
melnick-needles syndrome:
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

62
melnick-needles syndrome:
Inheritance: x-linked dominant inheritance
Mortality/Aging: stillbirth


Classifications:



External Ids:

OMIM50 309350
Orphanet52 ORPHA2484
ICD10 via Orphanet29 Q77.8
UMLS via Orphanet67 C0025237
MedGen35 C0025237

Summaries for Melnick-Needles Syndrome

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OMIM:50 Melnick-Needles syndrome is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. These disorders,... (309350) more...

MalaCards based summary: Melnick-Needles Syndrome, also known as mns, is related to otopalatodigital syndrome, type ii and frontometaphyseal dysplasia, and has symptoms including abnormality of the fontanelles or cranial sutures, hypertelorism and prominent supraorbital ridges. An important gene associated with Melnick-Needles Syndrome is FLNA (Filamin A). Affiliated tissues include bone, kidney and heart.

Genetics Home Reference:24 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).

NIH Rare Diseases:46 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: 4/30/2015

UniProtKB/Swiss-Prot:68 Melnick-Needles syndrome: Severe congenital bone disorder characterized by typical facies (exophthalmos, full cheeks, micrognathia and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of bones of legs, irregular constrictions in the ribs, and sclerosis of base of skull.

Related Diseases for Melnick-Needles Syndrome

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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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Symptoms by clinical synopsis from OMIM:

309350

Clinical features from OMIM:

309350

HPO human phenotypes related to Melnick-Needles Syndrome:

(show all 77)
id Description Frequency HPO Source Accession
1 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
2 hypertelorism hallmark (90%) HP:0000316
3 prominent supraorbital ridges hallmark (90%) HP:0000336
4 micrognathia hallmark (90%) HP:0000347
5 proptosis hallmark (90%) HP:0000520
6 narrow chest hallmark (90%) HP:0000774
7 abnormality of the metaphyses hallmark (90%) HP:0000944
8 arachnodactyly hallmark (90%) HP:0001166
9 skeletal dysplasia hallmark (90%) HP:0002652
10 abnormal cortical bone morphology hallmark (90%) HP:0003103
11 short stature hallmark (90%) HP:0004322
12 short thorax hallmark (90%) HP:0010306
13 long toe hallmark (90%) HP:0010511
14 vesicoureteral reflux typical (50%) HP:0000076
15 full cheeks typical (50%) HP:0000293
16 facial asymmetry typical (50%) HP:0000324
17 hearing impairment typical (50%) HP:0000365
18 abnormality of the ribs typical (50%) HP:0000772
19 abnormality of the clavicle typical (50%) HP:0000889
20 abnormality of the metacarpal bones typical (50%) HP:0001163
21 joint hypermobility typical (50%) HP:0001382
22 abnormality of the cardiac septa typical (50%) HP:0001671
23 frontal bossing typical (50%) HP:0002007
24 recurrent respiratory infections typical (50%) HP:0002205
25 scoliosis typical (50%) HP:0002650
26 abnormality of the hip bone typical (50%) HP:0003272
27 abnormal form of the vertebral bodies typical (50%) HP:0003312
28 craniofacial hyperostosis typical (50%) HP:0004493
29 reduced number of teeth typical (50%) HP:0009804
30 short distal phalanx of finger typical (50%) HP:0009882
31 omphalocele occasional (7.5%) HP:0001539
32 respiratory insufficiency occasional (7.5%) HP:0002093
33 ureteral stenosis HP:0000071
34 hydronephrosis HP:0000126
35 cleft palate HP:0000175
36 delayed cranial suture closure HP:0000270
37 small face HP:0000274
38 hypertelorism HP:0000316
39 prominent supraorbital ridges HP:0000336
40 micrognathia HP:0000347
41 macrotia HP:0000400
42 recurrent otitis media HP:0000403
43 long neck HP:0000472
44 strabismus HP:0000486
45 proptosis HP:0000520
46 delayed eruption of teeth HP:0000684
47 misalignment of teeth HP:0000692
48 pectus excavatum HP:0000767
49 narrow chest HP:0000774
50 hypoplastic scapulae HP:0000882
51 short clavicles HP:0000894
52 motor delay HP:0001270
53 gait disturbance HP:0001288
54 limited elbow extension HP:0001377
55 failure to thrive HP:0001508
56 omphalocele HP:0001539
57 hoarse voice HP:0001609
58 mitral valve prolapse HP:0001634
59 tricuspid valve prolapse HP:0001704
60 talipes equinovarus HP:0001762
61 pes planus HP:0001763
62 pulmonary hypertension HP:0002092
63 recurrent respiratory infections HP:0002205
64 coarse hair HP:0002208
65 coxa valga HP:0002673
66 kyphoscoliosis HP:0002751
67 hip dislocation HP:0002827
68 genu valgum HP:0002857
69 tibial bowing HP:0002982
70 flared metaphysis HP:0003015
71 anterior concavity of thoracic vertebrae HP:0004611
72 obtuse angle of mandible HP:0005446
73 short humerus HP:0005792
74 osteolytic defects of the phalanges of the hand HP:0009771
75 short distal phalanx of finger HP:0009882
76 cone-shaped epiphyses of the phalanges of the hand HP:0010230
77 frontal hirsutism HP:0011335

UMLS symptoms related to Melnick-Needles Syndrome:


hoarseness

Drugs & Therapeutics for Melnick-Needles Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Melnick-Needles Syndrome

Genetic Tests for Melnick-Needles Syndrome

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Genetic tests related to Melnick-Needles Syndrome:

id Genetic test Affiliating Genes
1 Melnick-Needles Syndrome25 23 FLNA

Anatomical Context for Melnick-Needles Syndrome

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MalaCards organs/tissues related to Melnick-Needles Syndrome:

34
Bone, Kidney, Heart, Eye

Animal Models for Melnick-Needles Syndrome or affiliated genes

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Publications for Melnick-Needles Syndrome

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Articles related to Melnick-Needles Syndrome:

(show all 48)
idTitleAuthorsYear
1
Maxillofacial Changes in Melnick-Needles Syndrome. (27478655)
2016
2
Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects. (25755106)
2015
3
Correction of spine deformity in patients with Melnick-needles syndrome: report of 2 cases and literature review. (23389572)
2013
4
Orthognathic surgery in Melnick-Needles-Syndrome. Case report and review of the literature. (22014680)
2012
5
Mandibular distraction osteogenesis reconstructed the upper airway in a case of Melnick-Needles syndrome. (20437066)
2011
6
Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome. (20186808)
2010
7
Chronic temporomandibular joint dislocation by mandibular distraction in a patient with Melnick-needles syndrome. (20072009)
2010
8
Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome. (21031081)
2010
9
Melnick-Needles syndrome associated with growth hormone deficiency: a case report. (21274303)
2009
10
Mandibular distraction osteogenesis in a patient with Melnick-Needles syndrome. (18216701)
2008
11
Audiological outcomes after cochlear implantation in a patient with Melnick-Needles syndrome. (18568526)
2008
12
Melnick-Needles Syndrome: report of a case associated with bilateral hypoplasia of the cochlea. (17569979)
2007
13
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. (16926860)
2007
14
The high-resolution chest CT findings in an adult with Melnick-Needles syndrome. (16919559)
2006
15
Melnick-Needles syndrome with obstructive sleep apnea successfully treated with nasal continuous positive airway pressure ventilation. (16440074)
2006
16
Melnick-Needles syndrome and GH-deficiency: a possible new association feature. (16402013)
2005
17
Fibular lengthening procedure: treatment for lateral instability of the ankle caused by fibular insufficiency in Melnick-Needles syndrome. (15076585)
2004
18
Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear. (11857561)
2002
19
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. (10706363)
2000
20
Infant with manifestations of oto-palato-digital syndrome type II and of Melnick-Needles syndrome. (10377016)
1999
21
Clinical and radiological aspects in Melnick-Needles syndrome. (10513069)
1999
22
Noncompaction of the ventricular myocardium in Melnick-Needles syndrome. (9215772)
1997
23
Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in a four-generation kindred. (9268106)
1997
24
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
25
Melnick-Needles syndrome in a mother and her son. (8831131)
1996
26
Melnick Needles syndrome. (8635812)
1995
27
Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report. (7778598)
1995
28
Melnick-Needles syndrome. (8024513)
1994
29
Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders. (8276023)
1993
30
Emergency tracheostomy in a patient with Melnick-Needles syndrome and sleep apnoea. (15125292)
1993
31
Case report 717. Osteodysplasty (Melnick-Needles syndrome). (1566112)
1992
32
Melnick-Needles syndrome. Four new cases. (1523045)
1992
33
Urological manifestations of the Melnick-Needles syndrome: a case report and review of the literature. (2016783)
1991
34
Mitral valve and tricuspidal valve prolapse in Melnick-Needles syndrome. (1743220)
1991
35
Melnick-Needles syndrome (osteodysplasty) in an older male--report of a case and a review of the literature. (1913051)
1991
36
Serpentine fibula--polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity? (3409932)
1988
37
Hyperlaxity in males with Melnick-Needles syndrome. (3377003)
1988
38
Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome. (3605194)
1987
39
Melnick-Needles syndrome in males. (3605193)
1987
40
Melnick-Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity. (3793511)
1986
41
The nature of the mandibular lesion in Melnick-Needles syndrome. (6695089)
1984
42
Melnick-Needles syndrome: osteodysplasty with kyphoscoliosis. (6874941)
1983
43
Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome). (7158644)
1982
44
Osteodysplasty (Melnick-Needles syndrome) in a male. (7163256)
1982
45
Melnick-Needles syndrome: indication for an autosomal recessive form. (7158646)
1982
46
Melnick-Needles syndrome: radiographic alterations in the mandible. (663242)
1978
47
Melnick-Needles syndrome. (105122)
1978
48
Osteodysplastia (Melnick-Needles syndrome). Radiological quiz. (847141)
1977

Variations for Melnick-Needles Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Melnick-Needles Syndrome:

68
id Symbol AA change Variation ID SNP ID
1FLNAp.Ala1188ThrVAR_015703rs28935472
2FLNAp.Ser1199LeuVAR_015704rs28935473
3FLNAp.Asp1184GluVAR_015720rs80338837

Clinvar genetic disease variations for Melnick-Needles Syndrome:

5
id Gene Variation 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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Search GEO for disease gene expression data for Melnick-Needles Syndrome.

Pathways for genes affiliated with Melnick-Needles Syndrome

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GO Terms for genes affiliated with Melnick-Needles Syndrome

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Sources for Melnick-Needles Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet