8q22.1 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: NMLFS
Nablus mask-like facial syndrome
Monosomy 8q22.1
CHROMOSOME 8q22.1 DELETION SYNDROME
Number of Symptoms 86
OrphanetNr: 178303
OMIM Id: 608156
ICD-10: Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Unknown
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Partial deletion of the long arm of chromosome 8
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000054) Micropenis 257 / 7739
2
 (HPO:0000028) Cryptorchidism 347 / 7739
3
 (HPO:0000066) Labial hypoplasia 10 / 7739
4
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
5
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
6
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
7
 (HPO:0000475) Broad neck 12 / 7739
8
 (HPO:0002553) Highly arched eyebrow Very frequent [Orphanet] 92 / 7739
9
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
10
 (HPO:0001363) Craniosynostosis Occasional [Orphanet] 132 / 7739
11
 (HPO:0000327) Hypoplasia of the maxilla Frequent [Orphanet] 129 / 7739
12
 (HPO:0000319) Smooth philtrum 72 / 7739
13
 (HPO:0002057) Prominent glabella 8 / 7739
14
 (HPO:0000298) Mask-like facies 44 / 7739
15
 (HPO:0009553) Abnormality of the hairline Very frequent [Orphanet] 30 / 7739
16
 (HPO:0000431) Wide nasal bridge 290 / 7739
17
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
18
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
19
 (HPO:0009933) Narrow naris Occasional [Orphanet] 16 / 7739
20
 (HPO:0003196) Short nose 264 / 7739
21
 (HPO:0006482) Abnormality of dental morphology Frequent [Orphanet] 81 / 7739
22
 (HPO:0000294) Low anterior hairline 52 / 7739
23
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
24
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
25
 (HPO:0000278) Retrognathia 100 / 7739
26
 (HPO:0005484) Postnatal microcephaly 32 / 7739
27
 (HPO:0005280) Depressed nasal bridge 381 / 7739
28
 (HPO:0000341) Narrow forehead 96 / 7739
29
 (HPO:0000160) Narrow mouth 188 / 7739
30
 (HPO:0000218) High palate 356 / 7739
31
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] 197 / 7739
32
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
33
 (HPO:0000457) Depressed nasal ridge Very frequent [Orphanet] 85 / 7739
34
 (HPO:0002007) Frontal bossing 366 / 7739
35
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
36
 (HPO:0000316) Hypertelorism 644 / 7739
37
 (HPO:0000164) Abnormality of the teeth 291 / 7739
38
 (HPO:0000653) Sparse eyelashes 58 / 7739
39
 (HPO:0200102) Sparse or absent eyelashes Occasional [Orphanet] 64 / 7739
40
 (HPO:0000356) Abnormality of the outer ear Very frequent [Orphanet] 85 / 7739
41
 (HPO:0000369) Low-set ears 372 / 7739
42
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
43
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
44
 (HPO:0009738) Abnormality of the antihelix Very frequent [Orphanet] 37 / 7739
45
 (HPO:0100810) Pointed helix Very frequent [Orphanet] 3 / 7739
46
 (HPO:0001263) Global developmental delay 853 / 7739
47
 (HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 212 / 7739
48
 (HPO:0002557) Hypoplastic nipples 33 / 7739
49
 (HPO:0004404) Abnormality of the nipple Frequent [Orphanet] 54 / 7739
50
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
51
 (HPO:0001182) Tapered finger 93 / 7739
52
 (HPO:0012385) Camptodactyly 113 / 7739
53
 (HPO:0009473) Joint contracture of the hand 84 / 7739
54
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
55
 (HPO:0001371) Flexion contracture 220 / 7739
56
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
57
 (HPO:0001852) Sandal gap Frequent [Orphanet] 63 / 7739
58
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
59
 (HPO:0200040) Epidermoid cyst Very frequent [Orphanet] 35 / 7739
60
 (HPO:0002236) Frontal upsweep of hair 8 / 7739
61
 (HPO:0100679) Lack of skin elasticity Very frequent [Orphanet] 29 / 7739
62
 (HPO:0008070) Sparse hair 94 / 7739
63
 (HPO:0001006) Hypotrichosis Occasional [Orphanet] 219 / 7739
64
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
65
 (HPO:0003745) Sporadic 131 / 7739
66
 (OMIM) Laterally displaced nipples 1 / 7739
67
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
68
 (OMIM) Long smooth philtrum 9 / 7739
69
 (OMIM) Expressionless facial appearance 1 / 7739
70
 (OMIM) Prominent antihelices 1 / 7739
71
 (OMIM) Unruly hair 1 / 7739
72
 (OMIM) Tight, glistening facial skin 1 / 7739
73
 (OMIM) Curved incisors 1 / 7739
74
 (OMIM) [DEL] Happy demeanor 5 / 7739
75
 (HPO:0030084) Clinodactyly 90 / 7739
76
 (OMIM) Frontal bossing, mild 2 / 7739
77
 (HPO:0012745) Short palpebral fissure 47 / 7739
78
 (OMIM) Asymmetric skull 6 / 7739
79
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
80
 (OMIM) Abnormal ear configuration 1 / 7739
81
 (OMIM) Misaligned eyebrows 1 / 7739
82
 (HPO:0040082) Happy demeanor 6 / 7739
83
 (OMIM) Large, anteverted nasal tip 1 / 7739
84
 (OMIM) Triangular-shaped ears 1 / 7739
85
 (MedDRA:10058668) Clinodactyly 91 / 7739
86
 (OMIM) Long, everted upper lip 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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, ...
Clinical Description OMIM Salpietro et al. (2003) described a 21-month-old girl with a striking facial appearance and other characteristics virtually identical to those in a patient reported by Teebi (2000) under the designation Nablus mask-like facial syndrome. Features in both cases, ...