MCID: MLN014
MIFTS: 44

Melnick-Needles Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Melnick-Needles Syndrome

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 66UMLS via Orphanet, 28ICD10 via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Melnick-Needles Syndrome:

Name: Melnick-Needles Syndrome 49 11 45 22 23 47 51 24 65 67
Mns 45 22 23 67
 
Melnick-Needles Osteodysplasty 45 23 51
Osteodysplasty of Melnick and Needles 45 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
melnick-needles syndrome:
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

OMIM49 309350
Orphanet51 2484
UMLS via Orphanet66 C0025237
ICD10 via Orphanet28 Q77.8
MedGen34 C0025237

Summaries for Melnick-Needles Syndrome

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OMIM:49 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 otopalatodigital syndrome, type i, 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, Alpha). Affiliated tissues include bone, kidney and heart.

NIH Rare Diseases:45 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

Genetics Home Reference:23 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).

UniProtKB/Swiss-Prot:67 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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Diseases related to Melnick-Needles Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 119)
idRelated DiseaseScoreTop Affiliating Genes
1otopalatodigital syndrome, type ii30.2FLNA, FSHMD1A, GYPB
2otopalatodigital syndrome, type i30.1FLNA, FSHMD1A, GYPB
3frontometaphyseal dysplasia30.1FLNA, FSHMD1A, GYPB
4hiv-110.6
5acquired immunodeficiency syndrome10.6
6human immunodeficiency virus infectious disease10.6
7otopalatodigital syndrome10.5
8frank-ter haar syndrome10.4
9drug rash with eosinophilia and systemic symptoms10.4
10neuroblastoma10.4
11prostate cancer10.3
12vaccinia10.3
13atelosteogenesis, type i10.3
14boomerang dysplasia10.3
15atelosteogenesis10.3
16periventricular nodular heterotopia10.3
17tricuspid valve prolapse10.3
18obstructive sleep apnea10.3
19sleep apnea10.3
20growth hormone deficiency10.3
21mucolipidosis ii alpha/beta10.2
22viral infectious disease10.2
23obesity10.2
24membranous nephropathy10.2
25gastric cancer10.2
26glomerulonephritis10.2
27respiratory syncytial virus infectious disease10.2
28membranous glomerulonephritis10.2
29cervicitis10.2
30hypersensitivity reaction type ii disease10.2
31prostatitis10.2
32ipex syndrome10.2
33hypoxia10.2
34idiopathic membranous glomerulonephritis10.2
35schizophrenia10.1
36immunodeficiency 1110.1
37immunodeficiency 810.1
38immunodeficiency 1210.1
39hailey-hailey disease10.1
40motor neuron disease10.1
41hydronephrosis10.1
42primary hyperoxaluria10.1
43rabies10.1
44lateral sclerosis10.1
45neuronitis10.1
46milker's nodule10.1
47oral squamous cell carcinoma10.1
48blood protein disease10.1
49kidney disease10.1
50melanoma10.1

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

Symptoms:

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

HPO human phenotypes related to Melnick-Needles Syndrome:

(show all 79)
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 x-linked dominant inheritance HP:0001423
56 failure to thrive HP:0001508
57 omphalocele HP:0001539
58 hoarse voice HP:0001609
59 mitral valve prolapse HP:0001634
60 tricuspid valve prolapse HP:0001704
61 talipes equinovarus HP:0001762
62 pes planus HP:0001763
63 pulmonary hypertension HP:0002092
64 recurrent respiratory infections HP:0002205
65 coarse hair HP:0002208
66 coxa valga HP:0002673
67 kyphoscoliosis HP:0002751
68 hip dislocation HP:0002827
69 genu valgum HP:0002857
70 tibial bowing HP:0002982
71 flared metaphysis HP:0003015
72 stillbirth HP:0003826
73 anterior concavity of thoracic vertebrae HP:0004611
74 obtuse angle of mandible HP:0005446
75 short humerus HP:0005792
76 osteolytic defects of the phalanges of the hand HP:0009771
77 short distal phalanx of finger HP:0009882
78 cone-shaped epiphyses of the phalanges of the hand HP:0010230
79 frontal hirsutism HP:0011335

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 Syndrome22 24 FLNA

Anatomical Context for Melnick-Needles Syndrome

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MalaCards organs/tissues related to Melnick-Needles Syndrome:

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

Variations for Melnick-Needles Syndrome

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

67
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:

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet