MCID: CHR487
MIFTS: 23

Chromosome 8q21.11 Deletion Syndrome

Categories: Neuronal diseases, Fetal diseases, Rare diseases, 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 59
Deletion 8q21.11 59
Monosomy 8q21.11 59
Del(8)(q21.11) 59

Characteristics:

Orphanet epidemiological data:

59
8q21.11 microdeletion syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

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:

59 32 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
2 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
3 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
4 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
5 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
6 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
7 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
8 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
9 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
10 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
11 abnormality of the dentition 59 32 occasional (7.5%) Occasional (29-5%) HP:0000164
12 full cheeks 59 32 hallmark (90%) Very frequent (99-80%) HP:0000293
13 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
14 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
15 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
16 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
17 underdeveloped nasal alae 59 32 frequent (33%) Frequent (79-30%) HP:0000430
18 short philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000322
19 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
20 abnormality of the metacarpal bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0001163
21 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
22 narrow mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000160
23 downturned corners of mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0002714
24 round face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000311
25 nasal speech 59 32 frequent (33%) Frequent (79-30%) HP:0001611
26 hypoplasia of penis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008736
27 eczema 59 32 occasional (7.5%) Occasional (29-5%) HP:0000964
28 high forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000348
29 blepharophimosis 59 32 frequent (33%) Frequent (79-30%) HP:0000581
30 sclerocornea 59 32 frequent (33%) Frequent (79-30%) HP:0000647
31 abnormality of the sense of smell 59 32 occasional (7.5%) Occasional (29-5%) HP:0004408
32 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
33 iris hypopigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007730
34 wide nose 59 32 frequent (33%) Frequent (79-30%) HP:0000445
35 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
36 absent palmar crease 59 32 frequent (33%) Frequent (79-30%) HP:0010489
37 exaggerated cupid's bow 59 32 hallmark (90%) Very frequent (99-80%) HP:0002263
38 corneal opacity 59 Frequent (79-30%)
39 wide nasal bridge 32 HP:0000431
40 abnormal facial shape 59 Very frequent (99-80%)
41 sensorineural hearing impairment 32 HP:0000407
42 opacification of the corneal stroma 32 HP:0007759
43 protruding ear 32 HP:0000411
44 short palpebral fissure 32 HP:0012745
45 generalized hypotonia 32 HP:0001290
46 camptodactyly 32 HP:0012385
47 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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