MCID: CHR499
MIFTS: 20

Chromosome 16q22 Deletion Syndrome

Categories: Ear diseases, Genetic diseases

Aliases & Classifications for Chromosome 16q22 Deletion Syndrome

MalaCards integrated aliases for Chromosome 16q22 Deletion Syndrome:

Name: Chromosome 16q22 Deletion Syndrome 56 12 29 13 71

Characteristics:

OMIM:

56
Inheritance:
isolated cases

Miscellaneous:
contiguous gene deletion syndrome


HPO:

31
chromosome 16q22 deletion syndrome:
Inheritance sporadic


Classifications:



Summaries for Chromosome 16q22 Deletion Syndrome

OMIM : 56 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 heart, and related phenotypes are global developmental delay and depressed nasal bridge

Disease Ontology : 12 A chromosomal deletion syndrome that has material basis in an interstitial 16q22 deletion that is characterized by a 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.

Related Diseases for Chromosome 16q22 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 16q22 Deletion Syndrome

Human phenotypes related to Chromosome 16q22 Deletion Syndrome:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 depressed nasal bridge 31 HP:0005280
3 hypertelorism 31 HP:0000316
4 short neck 31 HP:0000470
5 wide nasal bridge 31 HP:0000431
6 failure to thrive 31 HP:0001508
7 frontal bossing 31 HP:0002007
8 wide intermamillary distance 31 HP:0006610
9 postnatal growth retardation 31 HP:0008897
10 high palate 31 HP:0000218
11 micrognathia 31 HP:0000347
12 low-set ears 31 HP:0000369
13 epicanthus 31 HP:0000286
14 upslanted palpebral fissure 31 HP:0000582
15 high forehead 31 HP:0000348
16 blepharophimosis 31 HP:0000581
17 narrow chest 31 HP:0000774
18 wormian bones 31 HP:0002645
19 wide anterior fontanel 31 HP:0000260
20 posteriorly rotated ears 31 HP:0000358
21 poor suck 31 HP:0002033
22 small for gestational age 31 HP:0001518
23 generalized hypotonia 31 HP:0001290
24 short palpebral fissure 31 HP:0012745
25 abnormality of the pinna 31 HP:0000377

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
epicanthal folds
short palpebral fissures
upslanting palpebral fissures

Growth Other:
failure to thrive
postnatal growth retardation

Head And Neck Face:
micrognathia

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 Neck:
short neck

Head And Neck Head:
frontal bossing
high forehead

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

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 29

Anatomical Context for Chromosome 16q22 Deletion Syndrome

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

40
Bone, Heart

Publications for Chromosome 16q22 Deletion Syndrome

Articles related to Chromosome 16q22 Deletion Syndrome:

# Title Authors PMID Year
1
Core binding factor beta (CBFB) haploinsufficiency due to an interstitial deletion at 16q21q22 resulting in delayed cranial ossification, cleft palate, congenital heart anomalies, and feeding difficulties but favorable outcome. 56
17022082 2006
2
High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype. 56
8230159 1993
3
Interstitial deletion of chromosome 16q: 16q22 is critical for 16q- syndrome. 56
1605249 1992
4
16q21 is critical for 16q deletion syndrome. 56
3378367 1988
5
Monosomy 16q: a distinct syndrome. Apropos of a de novo del(16) (q2100q2300). 56
4028506 1985
6
Partial monosomy of the long arm of chromosome 16 in a malformed newborn: karyotype 46,XX,del(16))q21). 56
914282 1977

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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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