MCID: CHR487
MIFTS: 19

Chromosome 8q21.11 Deletion Syndrome

Categories: Genetic diseases

Aliases & Classifications for Chromosome 8q21.11 Deletion Syndrome

MalaCards integrated aliases for Chromosome 8q21.11 Deletion Syndrome:

Name: Chromosome 8q21.11 Deletion Syndrome 57 12 29 13 15 73
8q21.11 Microdeletion Syndrome 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
isolated cases

Miscellaneous:
contiguous gene deletion syndrome
variable features
eight unrelated patients have been reported (as of september 2011)


HPO:

32
chromosome 8q21.11 deletion syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Chromosome 8q21.11 Deletion Syndrome

OMIM : 57 The chromosome 8q21.11 deletion syndrome is characterized by intellectual disability and common facial dysmorphic features (summary by Palomares et al., 2011). (614230)

MalaCards based summary : Chromosome 8q21.11 Deletion Syndrome, is also known as 8q21.11 microdeletion syndrome. An important gene associated with Chromosome 8q21.11 Deletion Syndrome is DEL8Q21.11 (Chromosome 8q21.11 Deletion Syndrome). Affiliated tissues include bone, and related phenotypes are hypertelorism and low-set ears

Related Diseases for Chromosome 8q21.11 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 8q21.11 Deletion Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
prominent ears
sensorineural hearing loss (3 patients)

Head And Neck Eyes:
ptosis
downslanting palpebral fissures
epicanthal folds
short palpebral fissures
corneal opacities

Head And Neck Nose:
wide nasal bridge
underdeveloped alae

Skeletal Hands:
camptodactyly
syndactyly
broadening of the first rays

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
unusual behavior (2 patients)

Head And Neck Neck:
short neck

Neurologic Central Nervous System:
intellectual disability
impaired balance (2 patients)
underdeveloped corpus callosum (3 patients)

Head And Neck Face:
full cheeks
micrognathia
short philtrum
round face
high forehead

Skeletal Feet:
camptodactyly
syndactyly
broadening of the first rays

Head And Neck Mouth:
downturned corners of the mouth
cupid bow of the upper lip


Clinical features from OMIM:

614230

Human phenotypes related to Chromosome 8q21.11 Deletion Syndrome:

32 (show all 45)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 occasional (7.5%) HP:0000316
2 low-set ears 32 hallmark (90%) HP:0000369
3 short neck 32 frequent (33%) HP:0000470
4 finger syndactyly 32 occasional (7.5%) HP:0006101
5 high palate 32 occasional (7.5%) HP:0000218
6 ptosis 32 hallmark (90%) HP:0000508
7 intellectual disability 32 hallmark (90%) HP:0001249
8 muscular hypotonia 32 hallmark (90%) HP:0001252
9 hearing impairment 32 hallmark (90%) HP:0000365
10 cataract 32 occasional (7.5%) HP:0000518
11 abnormality of the dentition 32 occasional (7.5%) HP:0000164
12 wide nasal bridge 32 HP:0000431
13 sensorineural hearing impairment 32 HP:0000407
14 full cheeks 32 hallmark (90%) HP:0000293
15 micrognathia 32 frequent (33%) HP:0000347
16 opacification of the corneal stroma 32 HP:0007759
17 strabismus 32 frequent (33%) HP:0000486
18 epicanthus 32 occasional (7.5%) HP:0000286
19 cryptorchidism 32 occasional (7.5%) HP:0000028
20 protruding ear 32 HP:0000411
21 underdeveloped nasal alae 32 frequent (33%) HP:0000430
22 short philtrum 32 hallmark (90%) HP:0000322
23 microphthalmia 32 occasional (7.5%) HP:0000568
24 abnormality of the metacarpal bones 32 occasional (7.5%) HP:0001163
25 downslanted palpebral fissures 32 frequent (33%) HP:0000494
26 narrow mouth 32 occasional (7.5%) HP:0000160
27 downturned corners of mouth 32 hallmark (90%) HP:0002714
28 round face 32 hallmark (90%) HP:0000311
29 nasal speech 32 frequent (33%) HP:0001611
30 hypoplasia of penis 32 occasional (7.5%) HP:0008736
31 eczema 32 occasional (7.5%) HP:0000964
32 high forehead 32 frequent (33%) HP:0000348
33 blepharophimosis 32 frequent (33%) HP:0000581
34 sclerocornea 32 frequent (33%) HP:0000647
35 abnormality of the sense of smell 32 occasional (7.5%) HP:0004408
36 camptodactyly of finger 32 occasional (7.5%) HP:0100490
37 iris hypopigmentation 32 occasional (7.5%) HP:0007730
38 wide nose 32 frequent (33%) HP:0000445
39 aplasia/hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0007370
40 generalized hypotonia 32 HP:0001290
41 absent palmar crease 32 frequent (33%) HP:0010489
42 short palpebral fissure 32 HP:0012745
43 exaggerated cupid's bow 32 hallmark (90%) HP:0002263
44 camptodactyly 32 HP:0012385
45 syndactyly 32 HP:0001159

Drugs & Therapeutics for Chromosome 8q21.11 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 8q21.11 Deletion Syndrome

Genetic Tests for Chromosome 8q21.11 Deletion Syndrome

Genetic tests related to Chromosome 8q21.11 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 8q21.11 Deletion Syndrome 29

Anatomical Context for Chromosome 8q21.11 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 8q21.11 Deletion Syndrome:

41
Bone

Publications for Chromosome 8q21.11 Deletion Syndrome

Variations for Chromosome 8q21.11 Deletion Syndrome

Expression for Chromosome 8q21.11 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 8q21.11 Deletion Syndrome.

Pathways for Chromosome 8q21.11 Deletion Syndrome

GO Terms for Chromosome 8q21.11 Deletion Syndrome

Sources for Chromosome 8q21.11 Deletion 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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