NMLFS
MCID: NBL001
MIFTS: 27

Nablus Mask-Like Facial Syndrome (NMLFS)

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Nablus Mask-Like Facial Syndrome

MalaCards integrated aliases for Nablus Mask-Like Facial Syndrome:

Name: Nablus Mask-Like Facial Syndrome 57 20 58 13 70
8q22.1 Microdeletion Syndrome 20 58 29
Chromosome 8q22.1 Deletion Syndrome 57
Monosomy 8q22.1 58
Nmlfs 57

Characteristics:

Orphanet epidemiological data:

58
8q22.1 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
nablus mask-like facial syndrome:
Inheritance autosomal dominant inheritance autosomal recessive inheritance sporadic


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Nablus Mask-Like Facial Syndrome

GARD : 20 Nablus mask-like facial syndrome is a rare microdeletion syndrome that is characterized by a mask-like facial appearance. Facial features include narrowing of the eye opening (blepharophimosis); tight appearing glistening facial skin; and flat and broad nose. Other features include malformed ears; unusual scalp hair pattern; permanently bent fingers and toes (camptodactyly); joint deformities ( contractures ) that restrict movement in the hands and feet; unusual dentition; mild developmental delay ; undescended testicles in males (cryptorchidism); and a happy disposition. This condition is caused by a deletion at chromosome 8q22.1.

MalaCards based summary : Nablus Mask-Like Facial Syndrome, also known as 8q22.1 microdeletion syndrome, is related to blepharophimosis and telecanthus. An important gene associated with Nablus Mask-Like Facial Syndrome is NMLFS (Nablus Mask-Like Facial Syndrome). Affiliated tissues include eye, and related phenotypes are wide nasal bridge and cryptorchidism

OMIM® : 57 Nablus mask-like facial syndrome (NMLFS) is a rare entity defined by distinctive facial features, including blepharophimosis, tight-appearing glistening facial skin, an abnormal hair pattern with an upswept frontal hairline, sparse arched eyebrows, flat and broad nose, long philtrum, distinctive ears, and a happy demeanor (summary by Jain et al., 2010). (608156) (Updated 20-May-2021)

Wikipedia : 73 Nablus mask-like facial syndrome (Nablus syndrome) is a rare (13 cases described by 2018) genetic... more...

Related Diseases for Nablus Mask-Like Facial Syndrome

Diseases related to Nablus Mask-Like Facial Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 blepharophimosis 10.5
2 telecanthus 10.4
3 autism 10.2
4 cryptorchidism, unilateral or bilateral 10.2
5 alacrima, achalasia, and mental retardation syndrome 10.2
6 autism spectrum disorder 10.2
7 microcephaly 10.2

Graphical network of the top 20 diseases related to Nablus Mask-Like Facial Syndrome:



Diseases related to Nablus Mask-Like Facial Syndrome

Symptoms & Phenotypes for Nablus Mask-Like Facial Syndrome

Human phenotypes related to Nablus Mask-Like Facial Syndrome:

58 31 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
2 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
3 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
4 mask-like facies 58 31 hallmark (90%) Very frequent (99-80%) HP:0000298
5 depressed nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000457
6 highly arched eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002553
7 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
8 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
9 blepharophimosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000581
10 abnormality of the antihelix 58 31 hallmark (90%) Very frequent (99-80%) HP:0009738
11 abnormal hair pattern 58 31 hallmark (90%) Very frequent (99-80%) HP:0010720
12 lack of skin elasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0100679
13 underfolded helix 58 31 hallmark (90%) Very frequent (99-80%) HP:0008577
14 conspicuously happy disposition 58 31 hallmark (90%) Very frequent (99-80%) HP:0100024
15 sparse and thin eyebrow 31 hallmark (90%) HP:0000535
16 skin dimple 31 hallmark (90%) HP:0010781
17 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
18 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
19 abnormality of the dentition 58 31 frequent (33%) Frequent (79-30%) HP:0000164
20 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
21 wide intermamillary distance 58 31 frequent (33%) Frequent (79-30%) HP:0006610
22 hypoplasia of the maxilla 58 31 frequent (33%) Frequent (79-30%) HP:0000327
23 sandal gap 58 31 frequent (33%) Frequent (79-30%) HP:0001852
24 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
25 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
26 hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000135
27 craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001363
28 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
29 submucous cleft hard palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000176
30 sparse eyelashes 58 31 occasional (7.5%) Occasional (29-5%) HP:0000653
31 abnormality of the nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0005288
32 frontal bossing 31 HP:0002007
33 high palate 31 HP:0000218
34 depressed nasal bridge 31 HP:0005280
35 hypertelorism 31 HP:0000316
36 short nose 31 HP:0003196
37 smooth philtrum 31 HP:0000319
38 retrognathia 31 HP:0000278
39 broad neck 31 HP:0000475
40 narrow mouth 31 HP:0000160
41 micropenis 31 HP:0000054
42 labial hypoplasia 31 HP:0000066
43 thin upper lip vermilion 31 HP:0000219
44 low anterior hairline 31 HP:0000294
45 skin dimples 58 Very frequent (99-80%)
46 tapered finger 31 HP:0001182
47 hypoplastic nipples 31 HP:0002557
48 posteriorly rotated ears 31 HP:0000358
49 sparse eyebrow 58 Very frequent (99-80%)
50 postnatal microcephaly 31 HP:0005484

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Neck:
short neck
broad neck

Head And Neck Nose:
short nose
flat, broad nasal bridge
large, anteverted nasal tip

Head And Neck Face:
retrognathia
mask-like facies
prominent glabella
maxillary hypoplasia
bitemporal narrowing
more
Skin Nails Hair Hair:
low anterior hairline
sparse hair
sparse eyelashes
high-arched eyebrows
sparse eyebrows
more
Chest Breasts:
hypoplastic nipples
laterally displaced nipples

Neurologic Behavioral Psychiatric Manifestations:
happy demeanor

Neurologic Central Nervous System:
developmental delay

Head And Neck Teeth:
abnormal dentition
curved incisors

Genitourinary External Genitalia Female:
hypoplastic labia

Skin Nails Hair Skin:
tight, glistening facial skin

Head And Neck Eyes:
hypertelorism
blepharophimosis
sparse eyelashes
short palpebral fissures
sparse eyebrows

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Ears:
low-set ears
posteriorly rotated ears
abnormal ear configuration
triangular-shaped ears
prominent antihelices

Skeletal Skull:
craniosynostosis
asymmetric skull

Skeletal Hands:
camptodactyly
clinodactyly
tapering fingers

Head And Neck Mouth:
thin upper lip
high-arched palate
small mouth
long, everted upper lip

Skeletal:
joint contractures

Genitourinary External Genitalia Male:
small penis

Head And Neck Head:
microcephaly, acquired

Clinical features from OMIM®:

608156 (Updated 20-May-2021)

Drugs & Therapeutics for Nablus Mask-Like Facial Syndrome

Search Clinical Trials , NIH Clinical Center for Nablus Mask-Like Facial Syndrome

Genetic Tests for Nablus Mask-Like Facial Syndrome

Genetic tests related to Nablus Mask-Like Facial Syndrome:

# Genetic test Affiliating Genes
1 8q22.1 Microdeletion Syndrome 29

Anatomical Context for Nablus Mask-Like Facial Syndrome

MalaCards organs/tissues related to Nablus Mask-Like Facial Syndrome:

40
Eye

Publications for Nablus Mask-Like Facial Syndrome

Articles related to Nablus Mask-Like Facial Syndrome:

(show all 15)
# Title Authors PMID Year
1
A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype. 61 57
20074678 2010
2
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature. 61 57
19328248 2009
3
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. 61 57
17940555 2008
4
Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization. 57 61
16691576 2006
5
Confirmation of Nablus mask-like facial syndrome. 57 61
12923873 2003
6
Nablus mask-like facial syndrome. 61 57
11186902 2000
7
A new syndrome with distinct facial and auricular malformations and dominant inheritance. 57
2929657 1989
8
Nablus Mask-Like Facial Syndrome with Moderate Developmental Delay. 61
32612438 2020
9
A case of Nablus mask-like facial syndrome with autism spectrum disorders. 61
29957742 2018
10
Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype. 61
25846266 2015
11
Facial abnormalities in Nablus mask-like facial syndrome: multidetector computed tomography findings. 61
24815794 2014
12
Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome. 61
24259484 2014
13
A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome. 61
23239647 2013
14
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype. 61
22821852 2012
15
Nablus mask-like facial syndrome. 61
11477618 2001

Variations for Nablus Mask-Like Facial Syndrome

Expression for Nablus Mask-Like Facial Syndrome

Search GEO for disease gene expression data for Nablus Mask-Like Facial Syndrome.

Pathways for Nablus Mask-Like Facial Syndrome

GO Terms for Nablus Mask-Like Facial Syndrome

Sources for Nablus Mask-Like Facial Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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