MCID: MLN014
MIFTS: 37

Melnick-Needles Syndrome

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

Aliases & Classifications for Melnick-Needles Syndrome

MalaCards integrated aliases for Melnick-Needles Syndrome:

Name: Melnick-Needles Syndrome 53 49 24 55 71 28 13 51 69
Melnick-Needles Osteodysplasty 53 49 24 55
Mns 53 49 24 71
Osteodysplasty of Melnick and Needles 53 49 24

Characteristics:

Orphanet epidemiological data:

55
melnick-needles syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

53
Inheritance:
x-linked dominant

Miscellaneous:
otopalatodigital syndrome type i (opd1, ) is an allelic disorder
otopalatodigital syndrome type ii (opd2, ) is an allelic disorder
frontometaphyseal dysplasia (fmd, ) is an allelic disorder
periventricular heterotopia is an allelic disorder
fifty percent of cases secondary to new mutations
males born to affected females are stillborn with exophthalmos, omphalocele, thin calvaria, curved long bones, and hypoplastic/absence thumbs and halluces
affected males who survive are secondary to new mutations


HPO:

31
melnick-needles syndrome:
Mortality/Aging stillbirth
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Melnick-Needles Syndrome

NIH Rare Diseases : 49 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 and males with this condition generally have more severe signs and symptoms than females. In almost all instances, males with Melnick-Needles syndrome die before or soon after birth. The signs and symptoms of this condition may include: short stature, various skeletal abnormalities, characteristic facial features, and abnormalities of the heart and/or kidneys. This condition is caused by mutations in the FLNA gene, and it is inherited in an X-linked dominant manner. Although there is no specific treatment or cure for Melnick-Needles syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options for each person. Last updated: 2/15/2017

MalaCards based summary : Melnick-Needles Syndrome, also known as melnick-needles osteodysplasty, is related to otopalatodigital syndrome, type i and otopalatodigital syndrome, type ii, and has symptoms including hypertelorism, frontal bossing and respiratory insufficiency. 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).

OMIM : 53 Melnick-Needles syndrome is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. These disorders, including frontometaphyseal dysplasia (FMD; 305620), otopalatodigital syndrome-1 (OPD1; 311300), and otopalatodigital syndrome-2 (OPD2; 304120), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD is characterized by a generalized skeletal dysplasia, deafness and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by Robertson, 2005). Verloes et al. (2000) suggested that these disorders constitute a single entity, which they called 'fronto-otopalatodigital osteodysplasia.' (309350)

UniProtKB/Swiss-Prot : 71 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

Diseases related to Melnick-Needles Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 otopalatodigital syndrome, type i 11.8
2 otopalatodigital syndrome, type ii 11.7
3 frontometaphyseal dysplasia 11.7
4 frank-ter haar syndrome 11.5
5 frontometaphyseal dysplasia 1 11.2
6 otopalatodigital syndrome 10.2
7 blood group, i system 10.1
8 apnea, obstructive sleep 9.9
9 atelosteogenesis, type i 9.9
10 boomerang dysplasia 9.9
11 periventricular nodular heterotopia 9.9
12 atelosteogenesis 9.9
13 sleep apnea 9.9
14 omphalocele 9.9
15 ectopic pregnancy 9.9
16 epilepsy 9.9
17 tricuspid valve prolapse 9.9
18 growth hormone deficiency 9.9

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



Diseases related to Melnick-Needles Syndrome

Symptoms & Phenotypes for Melnick-Needles Syndrome

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
hypertelorism
strabismus
exophthalmos

Skeletal Limbs:
genu valgum
limited elbow extension
short upper arms
bowing of humerus
bowing of radius
more
Respiratory:
recurrent respiratory infections

Skin Nails Hair Hair:
coarse hair

Head And Neck Face:
micrognathia
small face
prominent hirsute forehead
full cheek
prominent supraorbital ridge

Head And Neck Ears:
recurrent otitis media
large ears

Voice:
hoarse voice

Skeletal Spine:
kyphoscoliosis
tall vertebrae
anterior concavity of thoracic vertebrae

Head And Neck Neck:
long neck

Neurologic Central Nervous System:
delayed motor development
abnormal gait

Skeletal Hands:
cone-shaped epiphyses
acroosteolysis
short distal phalanges

Chest External Features:
narrow shoulders

Abdomen External Features:
omphalocele (males)

Skin Nails Hair Skin:
hirsute forehead
skin hyperlaxity (males)

Chest RibsSternum Clavicles And Scapulae:
pectus excavatum
short clavicles
irregular ribbon-like ribs
short scapulae

Growth Other:
failure to thrive

Skeletal Feet:
pes planus
club feet

Head And Neck Mouth:
cleft palate

Skeletal Pelvis:
coxa valga
hip dislocation
iliac flaring

Cardiovascular Heart:
mitral valve prolapse
tricuspid valve prolapse
noncompaction of ventricular myocardium

Genitourinary Kidneys:
hydronephrosis

Genitourinary Ureters:
ureteral stenosis

Respiratory Lung:
pulmonary hypertension

Head And Neck Teeth:
delayed tooth eruption
malaligned teeth

Head And Neck Head:
delayed closure of fontanel

Growth Height:
short to normal stature

Skeletal Skull:
small mandible with obtuse angle
hypoplastic coronoid process
dense skull base
delayed paranasal sinus development


Clinical features from OMIM:

309350

Human phenotypes related to Melnick-Needles Syndrome:

55 31 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 frontal bossing 55 31 frequent (33%) Frequent (79-30%) HP:0002007
3 respiratory insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0002093
4 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
5 prominent supraorbital ridges 55 31 hallmark (90%) Very frequent (99-80%) HP:0000336
6 hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000365
7 recurrent respiratory infections 55 31 frequent (33%) Frequent (79-30%) HP:0002205
8 craniofacial hyperostosis 55 31 frequent (33%) Frequent (79-30%) HP:0004493
9 bowing of the long bones 55 31 hallmark (90%) Very frequent (99-80%) HP:0006487
10 abnormal cortical bone morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0003103
11 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
12 full cheeks 55 31 frequent (33%) Frequent (79-30%) HP:0000293
13 micrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000347
14 abnormality of the metaphysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000944
15 delayed eruption of teeth 55 31 frequent (33%) Frequent (79-30%) HP:0000684
16 narrow chest 55 31 hallmark (90%) Very frequent (99-80%) HP:0000774
17 coxa valga 55 31 frequent (33%) Frequent (79-30%) HP:0002673
18 joint hyperflexibility 55 31 frequent (33%) Frequent (79-30%) HP:0005692
19 short thorax 55 31 hallmark (90%) Very frequent (99-80%) HP:0010306
20 hip dislocation 55 31 frequent (33%) Frequent (79-30%) HP:0002827
21 vesicoureteral reflux 55 31 frequent (33%) Frequent (79-30%) HP:0000076
22 abnormality of the ribs 55 31 frequent (33%) Frequent (79-30%) HP:0000772
23 anisospondyly 55 31 frequent (33%) Frequent (79-30%) HP:0002879
24 proptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000520
25 short distal phalanx of finger 55 31 frequent (33%) Frequent (79-30%) HP:0009882
26 facial asymmetry 55 31 frequent (33%) Frequent (79-30%) HP:0000324
27 hydronephrosis 55 31 frequent (33%) Frequent (79-30%) HP:0000126
28 omphalocele 55 31 occasional (7.5%) Occasional (29-5%) HP:0001539
29 misalignment of teeth 55 31 frequent (33%) Frequent (79-30%) HP:0000692
30 short clavicles 55 31 frequent (33%) Frequent (79-30%) HP:0000894
31 delayed cranial suture closure 55 31 hallmark (90%) Very frequent (99-80%) HP:0000270
32 cone-shaped epiphyses of the phalanges of the hand 55 31 frequent (33%) Frequent (79-30%) HP:0010230
33 abnormality of the pubic bone 55 31 frequent (33%) Frequent (79-30%) HP:0003172
34 osteolytic defects of the phalanges of the hand 55 31 frequent (33%) Frequent (79-30%) HP:0009771
35 pectus excavatum 31 HP:0000767
36 genu valgum 31 HP:0002857
37 gait disturbance 31 HP:0001288
38 failure to thrive 31 HP:0001508
39 macrotia 31 HP:0000400
40 pes planus 31 HP:0001763
41 coarse hair 31 HP:0002208
42 cleft palate 31 HP:0000175
43 pulmonary arterial hypertension 31 HP:0002092
44 strabismus 31 HP:0000486
45 recurrent otitis media 31 HP:0000403
46 mitral valve prolapse 31 HP:0001634
47 talipes equinovarus 31 HP:0001762
48 hoarse voice 31 HP:0001609
49 abnormality of the cardiac septa 55 Frequent (79-30%)
50 motor delay 31 HP:0001270

UMLS symptoms related to Melnick-Needles Syndrome:


hoarseness

Drugs & Therapeutics for Melnick-Needles Syndrome

Search Clinical Trials , NIH Clinical Center for Melnick-Needles Syndrome

Genetic Tests for Melnick-Needles Syndrome

Genetic tests related to Melnick-Needles Syndrome:

# Genetic test Affiliating Genes
1 Melnick-Needles Syndrome 28 FLNA

Anatomical Context for Melnick-Needles Syndrome

MalaCards organs/tissues related to Melnick-Needles Syndrome:

38
Bone, Kidney, Heart, Skin, Eye

Publications for Melnick-Needles Syndrome

Articles related to Melnick-Needles Syndrome:

(show all 50)
# Title Authors Year
1
Orthognathic surgery in Melnick-Needles syndrome: a review of the literature and report of two siblings. ( 29336932 )
2018
2
Emergency salpingectomy for ruptured ectopic pregnancy in patient with Melnick-Needles syndrome: a rare otopalatodigital syndrome. ( 29237658 )
2017
3
Maxillofacial Changes in Melnick-Needles Syndrome. ( 27478655 )
2016
4
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
5
Correction of spine deformity in patients with Melnick-needles syndrome: report of 2 cases and literature review. ( 23389572 )
2013
6
Orthognathic surgery in Melnick-Needles-Syndrome. Case report and review of the literature. ( 22014680 )
2012
7
Mandibular distraction osteogenesis reconstructed the upper airway in a case of Melnick-Needles syndrome. ( 20437066 )
2011
8
Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome. ( 21031081 )
2010
9
Chronic temporomandibular joint dislocation by mandibular distraction in a patient with Melnick-needles syndrome. ( 20072009 )
2010
10
Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome. ( 20186808 )
2010
11
Melnick-Needles syndrome associated with growth hormone deficiency: a case report. ( 21274303 )
2009
12
Audiological outcomes after cochlear implantation in a patient with Melnick-Needles syndrome. ( 18568526 )
2008
13
Mandibular distraction osteogenesis in a patient with Melnick-Needles syndrome. ( 18216701 )
2008
14
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. ( 16926860 )
2007
15
Melnick-Needles Syndrome: report of a case associated with bilateral hypoplasia of the cochlea. ( 17569979 )
2007
16
Melnick-Needles syndrome with obstructive sleep apnea successfully treated with nasal continuous positive airway pressure ventilation. ( 16440074 )
2006
17
The high-resolution chest CT findings in an adult with Melnick-Needles syndrome. ( 16919559 )
2006
18
Melnick-Needles syndrome and GH-deficiency: a possible new association feature. ( 16402013 )
2005
19
Fibular lengthening procedure: treatment for lateral instability of the ankle caused by fibular insufficiency in Melnick-Needles syndrome. ( 15076585 )
2004
20
Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear. ( 11857561 )
2002
21
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. ( 10706363 )
2000
22
Clinical and radiological aspects in Melnick-Needles syndrome. ( 10513069 )
1999
23
Infant with manifestations of oto-palato-digital syndrome type II and of Melnick-Needles syndrome. ( 10377016 )
1999
24
Noncompaction of the ventricular myocardium in Melnick-Needles syndrome. ( 9215772 )
1997
25
Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in a four-generation kindred. ( 9268106 )
1997
26
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
27
Melnick-Needles syndrome in a mother and her son. ( 8831131 )
1996
28
Melnick Needles syndrome. ( 8635812 )
1995
29
Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report. ( 7778598 )
1995
30
Melnick-Needles syndrome. ( 8024513 )
1994
31
Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders. ( 8276023 )
1993
32
Emergency tracheostomy in a patient with Melnick-Needles syndrome and sleep apnoea. ( 15125292 )
1993
33
Melnick-Needles syndrome. Four new cases. ( 1523045 )
1992
34
Case report 717. Osteodysplasty (Melnick-Needles syndrome). ( 1566112 )
1992
35
Mitral valve and tricuspidal valve prolapse in Melnick-Needles syndrome. ( 1743220 )
1991
36
Urological manifestations of the Melnick-Needles syndrome: a case report and review of the literature. ( 2016783 )
1991
37
Melnick-Needles syndrome (osteodysplasty) in an older male--report of a case and a review of the literature. ( 1913051 )
1991
38
Serpentine fibula--polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity? ( 3409932 )
1988
39
Hyperlaxity in males with Melnick-Needles syndrome. ( 3377003 )
1988
40
Melnick-Needles syndrome in males. ( 3605193 )
1987
41
Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome. ( 3605194 )
1987
42
Melnick-Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity. ( 3793511 )
1986
43
The nature of the mandibular lesion in Melnick-Needles syndrome. ( 6695089 )
1984
44
Melnick-Needles syndrome: osteodysplasty with kyphoscoliosis. ( 6874941 )
1983
45
Melnick-Needles syndrome: indication for an autosomal recessive form. ( 7158646 )
1982
46
Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome). ( 7158644 )
1982
47
Osteodysplasty (Melnick-Needles syndrome) in a male. ( 7163256 )
1982
48
Melnick-Needles syndrome. ( 105122 )
1978
49
Melnick-Needles syndrome: radiographic alterations in the mandible. ( 663242 )
1978
50
Osteodysplastia (Melnick-Needles syndrome). Radiological quiz. ( 847141 )
1977

Variations for Melnick-Needles Syndrome

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

71
# Symbol AA change Variation ID SNP ID
1 FLNA p.Ala1188Thr VAR_015703 rs28935472
2 FLNA p.Ser1199Leu VAR_015704 rs28935473
3 FLNA p.Asp1184Glu VAR_015720 rs80338837

ClinVar genetic disease variations for Melnick-Needles Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FLNA NM_001110556.1(FLNA): c.3562G> A (p.Ala1188Thr) single nucleotide variant Pathogenic rs28935472 GRCh37 Chromosome X, 153588601: 153588601
2 FLNA NM_001110556.1(FLNA): c.3596C> T (p.Ser1199Leu) single nucleotide variant Pathogenic rs28935473 GRCh37 Chromosome X, 153588567: 153588567
3 FLNA NM_001110556.1(FLNA): c.3552C> A (p.Asp1184Glu) single nucleotide variant Pathogenic rs80338837 GRCh37 Chromosome X, 153588611: 153588611
4 FLNA NM_001456.3(FLNA): c.3668C> T (p.Pro1223Leu) single nucleotide variant Pathogenic rs1060500716 GRCh38 Chromosome X, 154360127: 154360127
5 FLNA NM_001456.3(FLNA): c.5964_5965delCT (p.Cys1989Phefs) deletion Pathogenic rs1060500718 GRCh38 Chromosome X, 154353329: 154353330
6 FLNA NM_001456.3(FLNA): c.4143-1G> T single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 154359407: 154359407
7 FLNA NM_001456.3(FLNA): c.4840_4852delGGTCGCTACACCA (p.Gly1614Serfs) deletion Pathogenic GRCh38 Chromosome X, 154357527: 154357539
8 FLNA NM_001110556.1(FLNA): c.999_1008dup (p.Asp337Argfs) duplication Pathogenic GRCh37 Chromosome X, 153594987: 153594996
9 FLNA NM_001456.3(FLNA): c.4596_4598+5del deletion Likely pathogenic GRCh38 Chromosome X, 154358440: 154358447

Expression for Melnick-Needles Syndrome

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

Pathways for Melnick-Needles Syndrome

GO Terms for Melnick-Needles Syndrome

Sources for Melnick-Needles Syndrome

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