17q21.31 microduplication syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Trisomy 17q21.31
Dup(17)(q21.31)
Number of Symptoms 25
OrphanetNr: 217340
OMIM Id: 613533
ICD-10: Q92.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
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 duplication of the long arm of chromosome 17
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0011800) Midface retrusion Frequent [Orphanet] 221 / 7739
2
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
3
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
4
 (HPO:0000322) Short philtrum Frequent [Orphanet] 130 / 7739
5
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
6
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
7
 (HPO:0000574) Thick eyebrow Occasional [Orphanet] 96 / 7739
8
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
9
 (HPO:0000664) Synophrys Occasional [Orphanet] 112 / 7739
10
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
11
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
12
 (HPO:0000356) Abnormality of the outer ear Very frequent [Orphanet] 85 / 7739
13
 (HPO:0000717) Autism Very frequent [Orphanet] 108 / 7739
14
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
15
 (HPO:0000752) Hyperactivity Frequent [Orphanet] 140 / 7739
16
 (HPO:0000722) Obsessive-compulsive behavior Occasional [Orphanet] 35 / 7739
17
 (HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
18
 (HPO:0001770) Toe syndactyly Frequent [Orphanet] 149 / 7739
19
 (HPO:0001852) Sandal gap Occasional [Orphanet] 63 / 7739
20
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
21
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
22
 (HPO:0011362) Abnormal hair quantity Frequent [Orphanet] 92 / 7739
23
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
24
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
25
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kirchhoff et al. (2007) reported a 10-year-old Moroccan girl with severe psychomotor delay who was found to have a de novo duplication at the chromosome 17q21.31 deletion syndrome locus. She had facial dysmorphism, short stature, microcephaly, abnormal digits, ...