8q21.11 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Monosomy 8q21.11
Del(8)(q21.11)
Deletion 8q21.11
Number of Symptoms 63
OrphanetNr: 284160
OMIM Id: 614230
ICD-10: Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Partial deletion of the long arm of chromosome 8
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
2
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
3
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
4
 (HPO:0007957) Corneal opacity 84 / 7739
5
 (HPO:0000647) Sclerocornea Frequent [Orphanet] 25 / 7739
6
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
7
 (HPO:0000510) Rod-cone dystrophy Occasional [Orphanet] 266 / 7739
8
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
9
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
10
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
11
 (HPO:0001608) Abnormality of the voice Frequent [Orphanet] 126 / 7739
12
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
13
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
14
 (HPO:0010547) Muscle flaccidity 466 / 7739
15
 (HPO:0001324) Muscle weakness 859 / 7739
16
 (HPO:0001249) Intellectual disability 1089 / 7739
17
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
18
 (HPO:0001159) Syndactyly 140 / 7739
19
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
20
 (HPO:0001163) Abnormality of the metacarpal bones Occasional [Orphanet] 149 / 7739
21
 (HPO:0010489) Absent palmar crease Frequent [Orphanet] 5 / 7739
22
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
23
 (HPO:0000347) Micrognathia 426 / 7739
24
 (HPO:0000348) High forehead Frequent [Orphanet] 157 / 7739
25
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
26
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
27
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
28
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
29
 (HPO:0001999) Abnormal facial shape Very frequent [Orphanet] 169 / 7739
30
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
31
 (HPO:0000293) Full cheeks Very frequent [Orphanet] 85 / 7739
32
 (HPO:0000311) Round face Very frequent [Orphanet] 104 / 7739
33
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
34
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
35
 (HPO:0002714) Downturned corners of mouth Very frequent [Orphanet] 98 / 7739
36
 (HPO:0002263) Exaggerated cupid's bow Very frequent [Orphanet] 15 / 7739
37
 (HPO:0000160) Narrow mouth Occasional [Orphanet] 188 / 7739
38
 (HPO:0000322) Short philtrum Very frequent [Orphanet] 130 / 7739
39
 (HPO:0000366) Abnormality of the nose Occasional [Orphanet] 56 / 7739
40
 (HPO:0000430) Underdeveloped nasal alae Frequent [Orphanet] 90 / 7739
41
 (HPO:0000431) Wide nasal bridge 290 / 7739
42
 (HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
43
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
44
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
45
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
46
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
47
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
48
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
49
 (HPO:0000369) Low-set ears 372 / 7739
50
 (HPO:0000411) Protruding ear 140 / 7739
51
 (HPO:0000964) Eczema Occasional [Orphanet] 81 / 7739
52
 (HPO:0012385) Camptodactyly 113 / 7739
53
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
54
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
55
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
56
 (HPO:0012745) Short palpebral fissure 47 / 7739
57
 (OMIM) Broadening of the first rays 1 / 7739
58
 (OMIM) Contiguous gene deletion syndrome 23 / 7739
59
 (OMIM) Cupid bow of the upper lip 1 / 7739
60
 (OMIM) Impaired balance 3 / 7739
61
 (OMIM) Underdeveloped alae 1 / 7739
62
 (OMIM) Underdeveloped corpus callosum (3 patients) 1 / 7739
63
 (OMIM) Unusual behavior (2 patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The chromosome 8q21.11 deletion syndrome is characterized by intellectual disability and common facial dysmorphic features (summary by Palomares et al., 2011).
Clinical Description OMIM Palomares et al. (2011) reported 8 unrelated individuals with intellectual disability and common facial dysmorphic features who had an overlapping heterozygous microdeletion involving chromosome 8q21.11 (See CYTOGENETICS). Dysmorphic features were variable and included round face with full cheeks, ...