MNS
MCID: MLN014
MIFTS: 45

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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NIH Rare Diseases:42 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 based summary: Melnick-Needles Syndrome, also known as melnick-needles osteodysplasty, is related to frontometaphyseal dysplasia and oto-palato-digital syndrome type 1, and has symptoms including large fontanelle/delayed fontanelle closure, hypertelorism and prominent supraorbital ridge. 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:46 309350

Aliases & Classifications for Melnick-Needles Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Melnick-Needles Syndrome, Aliases & Descriptions:

Name: Melnick-Needles Syndrome 42 20 22 21 46 44 48 62
Melnick-Needles Osteodysplasty 42 21 62
Osteodysplasty of Melnick and Needles 42 21
 
Mns 42 21
Osteodysplasty, Melnick-Needles Type 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
melnick-needles syndrome:
Inheritance: X-linked dominant; Prevalence: <1/1000000; Age of onset: Childhood


External Ids:

OMIM46 309350
ICD10 via Orphanet26 Q77.8
UMLS via Orphanet63 C0025237

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

Symptoms:

48 (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 bowing of the long bones hallmark (90%) HP:0006487
13 short thorax hallmark (90%) HP:0010306
14 long toe hallmark (90%) HP:0010511
15 vesicoureteral reflux typical (50%) HP:0000076
16 full cheeks typical (50%) HP:0000293
17 facial asymmetry typical (50%) HP:0000324
18 hearing impairment typical (50%) HP:0000365
19 abnormality of the ribs typical (50%) HP:0000772
20 abnormality of the clavicles typical (50%) HP:0000889
21 abnormality of the metacarpal bones typical (50%) HP:0001163
22 joint hypermobility typical (50%) HP:0001382
23 abnormality of the cardiac septa typical (50%) HP:0001671
24 frontal bossing typical (50%) HP:0002007
25 recurrent respiratory infections typical (50%) HP:0002205
26 scoliosis typical (50%) HP:0002650
27 abnormality of the hip bone typical (50%) HP:0003272
28 abnormal form of the vertebral bodies typical (50%) HP:0003312
29 craniofacial hyperostosis typical (50%) HP:0004493
30 reduced number of teeth typical (50%) HP:0009804
31 short distal phalanx of finger typical (50%) HP:0009882
32 omphalocele occasional (7.5%) HP:0001539
33 respiratory insufficiency occasional (7.5%) HP:0002093
34 ureteral stenosis HP:0000071
35 hydronephrosis HP:0000126
36 cleft palate HP:0000175
37 delayed cranial suture closure HP:0000270
38 small face HP:0000274
39 hypertelorism HP:0000316
40 prominent supraorbital ridges HP:0000336
41 micrognathia HP:0000347
42 macrotia HP:0000400
43 recurrent otitis media HP:0000403
44 long neck HP:0000472
45 strabismus HP:0000486
46 proptosis HP:0000520
47 delayed eruption of teeth HP:0000684
48 misalignment of teeth HP:0000692
49 pectus excavatum HP:0000767
50 narrow chest HP:0000774
51 hypoplastic scapulae HP:0000882
52 short clavicles HP:0000894
53 motor delay HP:0001270
54 gait disturbance HP:0001288
55 limited elbow extension HP:0001377
56 x-linked dominant inheritance HP:0001423
57 failure to thrive HP:0001508
58 omphalocele HP:0001539
59 hoarse voice HP:0001609
60 mitral valve prolapse HP:0001634
61 tricuspid valve prolapse HP:0001704
62 talipes equinovarus HP:0001762
63 pes planus HP:0001763
64 pulmonary hypertension HP:0002092
65 recurrent respiratory infections HP:0002205
66 coarse hair HP:0002208
67 coxa valga HP:0002673
68 kyphoscoliosis HP:0002751
69 hip dislocation HP:0002827
70 genu valgum HP:0002857
71 tibial bowing HP:0002982
72 flared metaphyses HP:0003015
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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Drug clinical trials:

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Search 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 Syndrome20 22

Anatomical Context for Melnick-Needles Syndrome

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MalaCards organs/tissues related to Melnick-Needles Syndrome:

32
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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Articles related to Melnick-Needles Syndrome:

(show all 46)
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
Melnick-Needles syndrome. (8024513)
1994
27
Emergency tracheostomy in a patient with Melnick-Needles syndrome and sleep apnoea. (15125292)
1993
28
Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders. (8276023)
1993
29
Case report 717. Osteodysplasty (Melnick-Needles syndrome). (1566112)
1992
30
Melnick-Needles syndrome. Four new cases. (1523045)
1992
31
Urological manifestations of the Melnick-Needles syndrome: a case report and review of the literature. (2016783)
1991
32
Mitral valve and tricuspidal valve prolapse in Melnick-Needles syndrome. (1743220)
1991
33
Melnick-Needles syndrome (osteodysplasty) in an older male--report of a case and a review of the literature. (1913051)
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
Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome). (7158644)
1982
42
Osteodysplasty (Melnick-Needles syndrome) in a male. (7163256)
1982
43
Melnick-Needles syndrome: indication for an autosomal recessive form. (7158646)
1982
44
Melnick-Needles syndrome: radiographic alterations in the mandible. (663242)
1978
45
Melnick-Needles syndrome. (105122)
1978
46
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:

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:

6
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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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
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Sources for Melnick-Needles Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet