NMLFS
MCID: NBL001
MIFTS: 28

Nablus Mask-Like Facial Syndrome (NMLFS)

Categories: Ear diseases, Fetal diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Nablus Mask-Like Facial Syndrome

MalaCards integrated aliases for Nablus Mask-Like Facial Syndrome:

Name: Nablus Mask-Like Facial Syndrome 58 54 60 30 13 74
8q22.1 Microdeletion Syndrome 54 60
Chromosome 8q22.1 Deletion Syndrome 58
Monosomy 8q22.1 60
Nmlfs 58

Characteristics:

Orphanet epidemiological data:

60
8q22.1 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
nablus mask-like facial syndrome:
Inheritance autosomal dominant inheritance autosomal recessive inheritance sporadic


Classifications:



Summaries for Nablus Mask-Like Facial Syndrome

NIH Rare Diseases : 54 Nablus mask-like facial syndromeis a rare microdeletion syndrome that is characterized by a mask-like facial appearance. Facial features include narrowing of the eye opening (blepharophimosis); tight appearing ging 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 autism. An important gene associated with Nablus Mask-Like Facial Syndrome is NMLFS (Nablus Mask-Like Facial Syndrome). Affiliated tissues include skin and eye, and related phenotypes are low-set ears and wide nasal bridge

OMIM : 58 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)

Wikipedia : 77 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 autism 10.2

Symptoms & Phenotypes for Nablus Mask-Like Facial Syndrome

Human phenotypes related to Nablus Mask-Like Facial Syndrome:

60 33 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000369
2 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
3 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
4 lack of skin elasticity 60 33 hallmark (90%) Very frequent (99-80%) HP:0100679
5 cryptorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000028
6 mask-like facies 60 33 hallmark (90%) Very frequent (99-80%) HP:0000298
7 telecanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000506
8 depressed nasal ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000457
9 abnormality of the antihelix 60 33 hallmark (90%) Very frequent (99-80%) HP:0009738
10 abnormal hair pattern 60 33 hallmark (90%) Very frequent (99-80%) HP:0010720
11 blepharophimosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000581
12 highly arched eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0002553
13 skin dimples 60 33 hallmark (90%) Very frequent (99-80%) HP:0010781
14 underfolded helix 60 33 hallmark (90%) Very frequent (99-80%) HP:0008577
15 conspicuously happy disposition 60 33 hallmark (90%) Very frequent (99-80%) HP:0100024
16 sparse and thin eyebrow 33 hallmark (90%) HP:0000535
17 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
18 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
19 abnormality of the dentition 60 33 frequent (33%) Frequent (79-30%) HP:0000164
20 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
21 limitation of joint mobility 60 33 frequent (33%) Frequent (79-30%) HP:0001376
22 wide intermamillary distance 60 33 frequent (33%) Frequent (79-30%) HP:0006610
23 hypogonadism 60 33 frequent (33%) Frequent (79-30%) HP:0000135
24 hypoplasia of the maxilla 60 33 frequent (33%) Frequent (79-30%) HP:0000327
25 sandal gap 60 33 frequent (33%) Frequent (79-30%) HP:0001852
26 camptodactyly of finger 60 33 frequent (33%) Frequent (79-30%) HP:0100490
27 finger syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0006101
28 craniosynostosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001363
29 submucous cleft hard palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000176
30 sparse eyelashes 60 33 occasional (7.5%) Occasional (29-5%) HP:0000653
31 abnormality of the nares 60 33 occasional (7.5%) Occasional (29-5%) HP:0005288
32 hypertelorism 33 HP:0000316
33 frontal bossing 33 HP:0002007
34 clinodactyly 33 HP:0030084
35 high palate 33 HP:0000218
36 depressed nasal bridge 33 HP:0005280
37 short nose 33 HP:0003196
38 smooth philtrum 33 HP:0000319
39 retrognathia 33 HP:0000278
40 broad neck 33 HP:0000475
41 abnormality of the pinna 60 Very frequent (99-80%)
42 narrow mouth 33 HP:0000160
43 thin upper lip vermilion 33 HP:0000219
44 low anterior hairline 33 HP:0000294
45 tapered finger 33 HP:0001182
46 micropenis 33 HP:0000054
47 hypoplastic nipples 33 HP:0002557
48 sparse eyebrow 60 Very frequent (99-80%)
49 short palpebral fissure 33 HP:0012745
50 postnatal microcephaly 33 HP:0005484

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
blepharophimosis
sparse eyelashes
short palpebral fissures
sparse eyebrows

Head And Neck Neck:
short neck
broad neck

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

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Skull:
craniosynostosis
asymmetric skull

Neurologic Behavioral Psychiatric Manifestations:
happy demeanor

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

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

Skeletal Hands:
clinodactyly
camptodactyly
tapering fingers

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 Central Nervous System:
developmental delay

Skeletal:
joint contractures

Genitourinary External Genitalia Male:
small penis

Head And Neck Head:
microcephaly, acquired

Clinical features from OMIM:

608156

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 Nablus Mask-Like Facial Syndrome 30

Anatomical Context for Nablus Mask-Like Facial Syndrome

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

42
Skin, Eye

Publications for Nablus Mask-Like Facial Syndrome

Articles related to Nablus Mask-Like Facial Syndrome:

(show all 12)
# Title Authors Year
1
A case of Nablus mask-like facial syndrome with autism spectrum disorders. ( 29957742 )
2018
2
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. ( 25846266 )
2015
3
Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome. ( 24259484 )
2014
4
Facial abnormalities in Nablus mask-like facial syndrome: multidetector computed tomography findings. ( 24815794 )
2014
5
A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome. ( 23239647 )
2013
6
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype. ( 22821852 )
2012
7
A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype. ( 20074678 )
2010
8
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature. ( 19328248 )
2009
9
Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization. ( 16691576 )
2006
10
Confirmation of Nablus mask-like facial syndrome. ( 12923873 )
2003
11
Nablus mask-like facial syndrome. ( 11477618 )
2001
12
Nablus mask-like facial syndrome. ( 11186902 )
2000

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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