MCID: MLN014
MIFTS: 37

Melnick-Needles Syndrome

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

Aliases & Classifications for Melnick-Needles Syndrome

MalaCards integrated aliases for Melnick-Needles Syndrome:

Name: Melnick-Needles Syndrome 54 50 24 25 56 71 29 13 52 69
Mns 50 24 25 71
Melnick-Needles Osteodysplasty 50 25 56
Osteodysplasty of Melnick and Needles 50 25

Characteristics:

Orphanet epidemiological data:

56
melnick-needles syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

54
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:

32
melnick-needles syndrome:
Mortality/Aging stillbirth
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Melnick-Needles Syndrome

NIH Rare Diseases : 50 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 mns, is related to otopalatodigital syndrome, type ii and frontometaphyseal dysplasia, and has symptoms including failure to thrive, recurrent respiratory infections and strabismus. An important gene associated with Melnick-Needles Syndrome is FLNA (Filamin A). Affiliated tissues include bone, kidney and heart.

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.

Genetics Home Reference : 25 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 : 54
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)

Related Diseases for Melnick-Needles Syndrome

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

(show all 15)
id Related Disease Score Top Affiliating Genes
1 otopalatodigital syndrome, type ii 11.6
2 frontometaphyseal dysplasia 11.6
3 otopalatodigital syndrome, type i 11.4
4 frank-ter haar syndrome 11.2
5 frontometaphyseal dysplasia 1 11.1
6 otopalatodigital syndrome 10.1
7 atelosteogenesis 9.9
8 sleep apnea 9.9
9 obstructive sleep apnea 9.9
10 omphalocele 9.9
11 epilepsy 9.9
12 tricuspid valve prolapse 9.9
13 growth hormone deficiency 9.9
14 atelosteogenesis, type i 9.9
15 boomerang dysplasia 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:

54

Growth- Other:
failure to thrive

Respiratory:
recurrent respiratory infections

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

Skeletal- Pelvis:
coxa valga
hip dislocation
iliac flaring

Skeletal- Spine:
kyphoscoliosis
tall vertebrae
anterior concavity of thoracic vertebrae

Genitourinary- Kidneys:
hydronephrosis

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

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

Genitourinary- Ureters:
ureteral stenosis

Abdomen- External Features:
omphalocele (males)

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

Neurologic- Central Nervous System:
delayed motor development
abnormal gait

Head And Neck- Eyes:
strabismus
hypertelorism
exophthalmos

Head And Neck- Ears:
large ears
recurrent otitis media

Head And Neck- Mouth:
cleft palate

Skeletal- Feet:
club feet
pes planus

Skeletal- Limbs:
genu valgum
limited elbow extension
bowing of tibia
bowing of ulna
metaphyseal flaring of long bones
more
Skeletal- Hands:
acroosteolysis
short distal phalanges
cone-shaped epiphyses

Skin Nails & Hair- Hair:
coarse hair

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

Voice:
hoarse voice

Head And Neck- Neck:
long neck

Chest- External Features:
narrow shoulders

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:

32 (show all 45)
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 recurrent respiratory infections 32 HP:0002205
3 strabismus 32 HP:0000486
4 micrognathia 32 HP:0000347
5 hypertelorism 32 HP:0000316
6 coxa valga 32 HP:0002673
7 proptosis 32 HP:0000520
8 tibial bowing 32 HP:0002982
9 cleft palate 32 HP:0000175
10 kyphoscoliosis 32 HP:0002751
11 hip dislocation 32 HP:0002827
12 hydronephrosis 32 HP:0000126
13 genu valgum 32 HP:0002857
14 talipes equinovarus 32 HP:0001762
15 narrow chest 32 HP:0000774
16 hypoplastic scapulae 32 HP:0000882
17 omphalocele 32 HP:0001539
18 pectus excavatum 32 HP:0000767
19 motor delay 32 HP:0001270
20 coarse hair 32 HP:0002208
21 pes planus 32 HP:0001763
22 mitral valve prolapse 32 HP:0001634
23 limited elbow extension 32 HP:0001377
24 pulmonary arterial hypertension 32 HP:0002092
25 recurrent otitis media 32 HP:0000403
26 gait disturbance 32 HP:0001288
27 tricuspid valve prolapse 32 HP:0001704
28 small face 32 HP:0000274
29 prominent supraorbital ridges 32 HP:0000336
30 short clavicles 32 HP:0000894
31 hoarse voice 32 HP:0001609
32 long neck 32 HP:0000472
33 macrotia 32 HP:0000400
34 delayed eruption of teeth 32 HP:0000684
35 ureteral stenosis 32 HP:0000071
36 anterior concavity of thoracic vertebrae 32 HP:0004611
37 short humerus 32 HP:0005792
38 short distal phalanx of finger 32 HP:0009882
39 misalignment of teeth 32 HP:0000692
40 delayed cranial suture closure 32 HP:0000270
41 cone-shaped epiphyses of the phalanges of the hand 32 HP:0010230
42 flared metaphysis 32 HP:0003015
43 obtuse angle of mandible 32 HP:0005446
44 osteolytic defects of the phalanges of the hand 32 HP:0009771
45 frontal hirsutism 32 HP:0011335

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:

id Genetic test Affiliating Genes
1 Melnick-Needles Syndrome 29 24 FLNA

Anatomical Context for Melnick-Needles Syndrome

MalaCards organs/tissues related to Melnick-Needles Syndrome:

39
Bone, Kidney, Heart, Skin, Eye

Publications for Melnick-Needles Syndrome

Articles related to Melnick-Needles Syndrome:

(show all 48)
id Title Authors Year
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
Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome. ( 21031081 )
2010
7
Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome. ( 20186808 )
2010
8
Chronic temporomandibular joint dislocation by mandibular distraction in a patient with Melnick-needles syndrome. ( 20072009 )
2010
9
Melnick-Needles syndrome associated with growth hormone deficiency: a case report. ( 21274303 )
2009
10
Audiological outcomes after cochlear implantation in a patient with Melnick-Needles syndrome. ( 18568526 )
2008
11
Mandibular distraction osteogenesis in a patient with Melnick-Needles syndrome. ( 18216701 )
2008
12
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. ( 16926860 )
2007
13
Melnick-Needles Syndrome: report of a case associated with bilateral hypoplasia of the cochlea. ( 17569979 )
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
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
Noncompaction of the ventricular myocardium in Melnick-Needles syndrome. ( 9215772 )
1997
25
Melnick-Needles syndrome in a mother and her son. ( 8831131 )
1996
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. ( 8635812 )
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
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
Urological manifestations of the Melnick-Needles syndrome: a case report and review of the literature. ( 2016783 )
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. ( 105122 )
1978
47
Melnick-Needles syndrome: radiographic alterations in the mandible. ( 663242 )
1978
48
Osteodysplastia (Melnick-Needles syndrome). Radiological quiz. ( 847141 )
1977

Variations for Melnick-Needles Syndrome

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

71
id 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
id 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

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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