16p13.3 microduplication syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Trisomy 16pter
Distal trisomy 16p
Distal duplication 16p
Telomeric duplication 16p
Dup(16)(p13.3)
Number of Symptoms 39
OrphanetNr: 96078
OMIM Id: 613458
ICD-10: Q92.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Partial duplication of the short arm of chromosome 16
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
2
 (HPO:0000414) Bulbous nose 63 / 7739
3
 (HPO:0011800) Midface retrusion 221 / 7739
4
 (HPO:0000272) Malar flattening 277 / 7739
5
 (HPO:0000276) Long face 109 / 7739
6
 (HPO:0003196) Short nose 264 / 7739
7
 (HPO:0000508) Ptosis 459 / 7739
8
 (HPO:0000411) Protruding ear 140 / 7739
9
 (HPO:0000369) Low-set ears 372 / 7739
10
 (HPO:0001256) Intellectual disability, mild 141 / 7739
11
 (HPO:0000708) Behavioral abnormality 212 / 7739
12
 (HPO:0000729) Autistic behavior rare [HPO:skoehler] 27 / 7739
13
 (HPO:0012385) Camptodactyly 113 / 7739
14
 (HPO:0003834) Shoulder dislocation 28 / 7739
15
 (HPO:0002827) Hip dislocation rare [HPO:skoehler] 94 / 7739
16
 (HPO:0002999) Patellar dislocation 46 / 7739
17
 (HPO:0000915) Pectus excavatum of inferior sternum 21 / 7739
18
 (HPO:0001761) Pes cavus 225 / 7739
19
 (HPO:0003179) Protrusio acetabuli 37 / 7739
20
 (HPO:0005021) Bilateral elbow dislocations 24 / 7739
21
 (HPO:0001182) Tapered finger 93 / 7739
22
 (HPO:0003042) Elbow dislocation 89 / 7739
23
 (HPO:0001831) Short toe 52 / 7739
24
 (HPO:0009803) Short phalanx of finger 79 / 7739
25
 (HPO:0001373) Joint dislocation 59 / 7739
26
 (HPO:0000767) Pectus excavatum rare [HPO:skoehler] 244 / 7739
27
 (HPO:0009623) Proximal placement of thumb 50 / 7739
28
 (HPO:0012095) Multiple joint dislocation 24 / 7739
29
 (HPO:0003994) Dislocated wrist 24 / 7739
30
 (HPO:0100807) Long fingers 23 / 7739
31
 (HPO:0001631) Atria septal defect 274 / 7739
32
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
33
 (HPO:0001629) Ventricular septal defect 316 / 7739
34
 (OMIM) Speech defect 3 / 7739
35
 (OMIM) Low-normal intelligence 3 / 7739
36
 (OMIM) Proximally placed toes 2 / 7739
37
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
38
 (HPO:0003812) Phenotypic variability 129 / 7739
39
 (OMIM) Developmental delay, mild to moderate 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Thienpont et al. (2010) reported 12 unrelated patients with an interstitial duplication of chromosome 16p13.3. All were referred for mental retardation and/or congenital anomalies. Mental development ranged from mildly to moderately delayed with speech problems, although some had ...