MCID: CHR499
MIFTS: 15

Chromosome 16q22 Deletion Syndrome

Categories: Genetic diseases

Aliases & Classifications for Chromosome 16q22 Deletion Syndrome

MalaCards integrated aliases for Chromosome 16q22 Deletion Syndrome:

Name: Chromosome 16q22 Deletion Syndrome 58 12 30 13 74

Characteristics:

OMIM:

58
Inheritance:
isolated cases

Miscellaneous:
contiguous gene deletion syndrome


HPO:

33
chromosome 16q22 deletion syndrome:
Inheritance sporadic


Classifications:



Summaries for Chromosome 16q22 Deletion Syndrome

OMIM : 58 The interstitial 16q22 deletion syndrome is a multiple congenital anomaly disorder associated with failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck. The phenotypic features and deletion sizes are variable, but deletion of 16q22 appears to be critical for manifestations of the syndrome (summary by Fujiwara et al., 1992). (614541)

MalaCards based summary : Chromosome 16q22 Deletion Syndrome An important gene associated with Chromosome 16q22 Deletion Syndrome is C16DELQ22 (Chromosome 16q22 Deletion Syndrome). Affiliated tissues include bone, and related phenotypes are hypertelorism and low-set ears

Related Diseases for Chromosome 16q22 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 16q22 Deletion Syndrome

Human phenotypes related to Chromosome 16q22 Deletion Syndrome:

33 (show all 25)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 HP:0000316
2 low-set ears 33 HP:0000369
3 short neck 33 HP:0000470
4 frontal bossing 33 HP:0002007
5 high palate 33 HP:0000218
6 failure to thrive 33 HP:0001508
7 global developmental delay 33 HP:0001263
8 depressed nasal bridge 33 HP:0005280
9 wide nasal bridge 33 HP:0000431
10 micrognathia 33 HP:0000347
11 narrow chest 33 HP:0000774
12 epicanthus 33 HP:0000286
13 wormian bones 33 HP:0002645
14 wide intermamillary distance 33 HP:0006610
15 postnatal growth retardation 33 HP:0008897
16 abnormality of the pinna 33 HP:0000377
17 upslanted palpebral fissure 33 HP:0000582
18 high forehead 33 HP:0000348
19 blepharophimosis 33 HP:0000581
20 wide anterior fontanel 33 HP:0000260
21 generalized hypotonia 33 HP:0001290
22 poor suck 33 HP:0002033
23 short palpebral fissure 33 HP:0012745
24 posteriorly rotated ears 33 HP:0000358
25 small for gestational age 33 HP:0001518

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
epicanthal folds
short palpebral fissures
upslanting palpebral fissures

Head And Neck Neck:
short neck

Growth Other:
failure to thrive
postnatal growth retardation

Skeletal Skull:
wormian bones
large anterior fontanel
diastasis of cranial sutures

Neurologic Central Nervous System:
hypotonia
delayed psychomotor development

Chest Breasts:
widely spaced nipples

Head And Neck Nose:
broad flat nasal bridge

Skeletal Hands:
flexed fingers

Growth Height:
low birth length

Head And Neck Ears:
low-set ears
posteriorly rotated ears
dysplastic ears

Head And Neck Head:
frontal bossing
high forehead

Head And Neck Face:
micrognathia

Abdomen Gastrointestinal:
poor suck

Head And Neck Mouth:
high-arched palate

Chest External Features:
narrow thorax

Growth Weight:
low birth weight

Skeletal Feet:
broad first toe

Clinical features from OMIM:

614541

Drugs & Therapeutics for Chromosome 16q22 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 16q22 Deletion Syndrome

Genetic Tests for Chromosome 16q22 Deletion Syndrome

Genetic tests related to Chromosome 16q22 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 16q22 Deletion Syndrome 30

Anatomical Context for Chromosome 16q22 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 16q22 Deletion Syndrome:

42
Bone

Publications for Chromosome 16q22 Deletion Syndrome

Variations for Chromosome 16q22 Deletion Syndrome

Expression for Chromosome 16q22 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 16q22 Deletion Syndrome.

Pathways for Chromosome 16q22 Deletion Syndrome

GO Terms for Chromosome 16q22 Deletion Syndrome

Sources for Chromosome 16q22 Deletion 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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