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

About this section

Aliases & Descriptions for Melnick-Needles Syndrome:

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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
melnick-needles syndrome:
Mortality/Aging: stillbirth
Inheritance: x-linked dominant inheritance


Classifications:



External Ids:

OMIM49 309350
Orphanet51 2484
ICD10 via Orphanet28 Q77.8
UMLS via Orphanet66 C0025237
MedGen34 C0025237
UMLS65 C0025237

Summaries for Melnick-Needles Syndrome

About this section
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 long toe, short thorax and short stature. An important gene associated with Melnick-Needles Syndrome is FLNA (Filamin A). Affiliated tissues include bone, kidney and heart.

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).

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

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

About this section

Graphical network of the top 20 diseases related to Melnick-Needles Syndrome:



Diseases related to melnick-needles syndrome

Symptoms for Melnick-Needles Syndrome

About this section

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

UMLS symptoms related to Melnick-Needles Syndrome:


hoarseness

Drugs & Therapeutics for Melnick-Needles Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Melnick-Needles Syndrome

Genetic Tests for Melnick-Needles Syndrome

About this section

Genetic tests related to Melnick-Needles Syndrome:

id Genetic test Affiliating Genes
1 Melnick-Needles Syndrome22 FLNA

Anatomical Context for Melnick-Needles Syndrome

About this section

MalaCards organs/tissues related to Melnick-Needles Syndrome:

33
Bone, Kidney, Heart, Eye, Lung, Prostate, Endothelial

Animal Models for Melnick-Needles Syndrome or affiliated genes

About this section

Publications for Melnick-Needles Syndrome

About this section

Articles related to Melnick-Needles Syndrome:

(show all 47)
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
Melnick-Needles syndrome (osteodysplasty) in an older male--report of a case and a review of the literature. (1913051)
1991
35
Serpentine fibula--polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity? (3409932)
1988
36
Hyperlaxity in males with Melnick-Needles syndrome. (3377003)
1988
37
Melnick-Needles syndrome in males. (3605193)
1987
38
Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome. (3605194)
1987
39
Melnick-Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity. (3793511)
1986
40
The nature of the mandibular lesion in Melnick-Needles syndrome. (6695089)
1984
41
Melnick-Needles syndrome: osteodysplasty with kyphoscoliosis. (6874941)
1983
42
Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome). (7158644)
1982
43
Osteodysplasty (Melnick-Needles syndrome) in a male. (7163256)
1982
44
Melnick-Needles syndrome: indication for an autosomal recessive form. (7158646)
1982
45
Melnick-Needles syndrome: radiographic alterations in the mandible. (663242)
1978
46
Melnick-Needles syndrome. (105122)
1978
47
Osteodysplastia (Melnick-Needles syndrome). Radiological quiz. (847141)
1977

Variations for Melnick-Needles Syndrome

About this section

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

About this section
Search GEO for disease gene expression data for Melnick-Needles Syndrome.

Pathways for genes affiliated with Melnick-Needles Syndrome

About this section

GO Terms for genes affiliated with Melnick-Needles Syndrome

About this section

Sources for Melnick-Needles Syndrome

About this section
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