ADAMS-OLIVER SYNDROME 4

General Information (adopted from Orphanet):

Synonyms, Signs: AOS4
Number of Symptoms 22
OrphanetNr:
OMIM Id: 615297
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001831) Short toe rare [HPO:skoehler] 52 / 7739
2
(HPO:0001537) Umbilical hernia rare [HPO:skoehler] 206 / 7739
3
(HPO:0001539) Omphalocele 102 / 7739
4
(HPO:0100797) Toenail dysplasia 3 / 7739
5
(HPO:0001800) Hypoplastic toenails 74 / 7739
6
(HPO:0000965) Cutis marmorata rare [HPO:skoehler] 46 / 7739
7
(HPO:0011648) Patent ductus arteriosus after birth at term 18 / 7739
8
(HPO:0001643) Patent ductus arteriosus rare [HPO:skoehler] 228 / 7739
9
(HPO:0001629) Ventricular septal defect rare [HPO:skoehler] 316 / 7739
10
(HPO:0001671) Abnormality of the cardiac septa 55 / 7739
11
(HPO:0001631) Atria septal defect rare [HPO:skoehler] 274 / 7739
12
(OMIM) Temporal lobe infarct (rare) 1 / 7739
13
(OMIM) Aplastic toenails 1 / 7739
14
(OMIM) Absent middle phalanges of some toes (rare) 1 / 7739
15
(OMIM) Cafe-au-lait spots on chest and abdomen (rare) 1 / 7739
16
(OMIM) Absent distal phalanges of some or all toes (in some patients) 1 / 7739
17
(HPO:0003812) Phenotypic variability 129 / 7739
18
(OMIM) Occipital lobe infarct (rare) 1 / 7739
19
(OMIM) Bony defect of scalp underlying cutis aplasia (in some patients) 1 / 7739
20
(OMIM) Aplasia cutis of scalp 2 / 7739
21
(OMIM) Soft tissue syndactyly 2 / 7739
22
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita and terminal transverse limb defects. Additional abnormalities may be present in other organs, e.g., heart, brain, and/or eyes (summary by Shaheen et al., 2013).

...

Clinical Description OMIM Shaheen et al. (2013) studied 5 affected children from 3 consanguineous Arab families who had Adams-Oliver syndrome. All patients displayed typical features of AOS, including cutis aplasia of the scalp and terminal transverse digit defects of the feet, ...
Molecular genetics OMIM In a 5-week-old girl from a consanguineous Arab family with AOS mapping to chromosome 3, Shaheen et al. (2013) performed exome sequencing and identified a homozygous missense mutation in the EOGT gene (W207S; 614789.0001), located within the critical ...