NMLFS
MCID: NBL001
MIFTS: 29

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 57 53 59 29 13 73
8q22.1 Microdeletion Syndrome 53 59
Chromosome 8q22.1 Deletion Syndrome 57
Monosomy 8q22.1 59
Nmlfs 57

Characteristics:

Orphanet epidemiological data:

59
8q22.1 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant
isolated cases


HPO:

32
nablus mask-like facial syndrome:
Inheritance autosomal recessive inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Nablus Mask-Like Facial Syndrome

NIH Rare Diseases : 53 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 short neck

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)

Wikipedia : 76 Nablus mask-like facial syndrome is a microdeletion syndrome triggered by a deletion at chromosome 8... 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Nablus Mask-Like Facial Syndrome:

59 32 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
2 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
3 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
4 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
5 abnormality of the dentition 59 32 frequent (33%) Frequent (79-30%) HP:0000164
6 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
7 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
8 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
9 lack of skin elasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0100679
10 limitation of joint mobility 59 32 frequent (33%) Frequent (79-30%) HP:0001376
11 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
12 wide intermamillary distance 59 32 frequent (33%) Frequent (79-30%) HP:0006610
13 mask-like facies 59 32 hallmark (90%) Very frequent (99-80%) HP:0000298
14 hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000135
15 telecanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000506
16 depressed nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000457
17 abnormality of the antihelix 59 32 hallmark (90%) Very frequent (99-80%) HP:0009738
18 hypoplasia of the maxilla 59 32 frequent (33%) Frequent (79-30%) HP:0000327
19 sandal gap 59 32 frequent (33%) Frequent (79-30%) HP:0001852
20 abnormal hair pattern 59 32 hallmark (90%) Very frequent (99-80%) HP:0010720
21 blepharophimosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000581
22 highly arched eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0002553
23 craniosynostosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001363
24 skin dimples 59 32 hallmark (90%) Very frequent (99-80%) HP:0010781
25 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
26 submucous cleft hard palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000176
27 sparse eyelashes 59 32 occasional (7.5%) Occasional (29-5%) HP:0000653
28 abnormality of the nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0005288
29 underfolded helix 59 32 hallmark (90%) Very frequent (99-80%) HP:0008577
30 conspicuously happy disposition 59 32 hallmark (90%) Very frequent (99-80%) HP:0100024
31 hypertelorism 32 HP:0000316
32 frontal bossing 32 HP:0002007
33 clinodactyly 32 HP:0030084
34 high palate 32 HP:0000218
35 depressed nasal bridge 32 HP:0005280
36 short nose 32 HP:0003196
37 smooth philtrum 32 HP:0000319
38 retrognathia 32 HP:0000278
39 broad neck 32 HP:0000475
40 abnormality of the pinna 59 Very frequent (99-80%)
41 narrow mouth 32 HP:0000160
42 thin upper lip vermilion 32 HP:0000219
43 low anterior hairline 32 HP:0000294
44 tapered finger 32 HP:0001182
45 micropenis 32 HP:0000054
46 hypoplastic nipples 32 HP:0002557
47 sparse eyebrow 59 Very frequent (99-80%)
48 short palpebral fissure 32 HP:0012745
49 postnatal microcephaly 32 HP:0005484
50 posteriorly rotated ears 32 HP:0000358

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 29

Anatomical Context for Nablus Mask-Like Facial Syndrome

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

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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