ADAMS-OLIVER SYNDROME 3

General Information (adopted from Orphanet):

Synonyms, Signs: AOS3
Number of Symptoms 18
OrphanetNr:
OMIM Id: 614814
ICD-10:
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: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000581) Blepharophimosis rare [HPO:skoehler] 197 / 7739
2
(HPO:0000252) Microcephaly 832 / 7739
3
(HPO:0001263) Global developmental delay rare [HPO:skoehler] 853 / 7739
4
(HPO:0001270) Motor delay 322 / 7739
5
(HPO:0001249) Intellectual disability 1089 / 7739
6
(HPO:0009882) Short distal phalanx of finger 125 / 7739
7
(HPO:0004691) 2-3 toe syndactyly 50 / 7739
8
(HPO:0010743) Short metatarsal 56 / 7739
9
(HPO:0010760) Absent toe 15 / 7739
10
(OMIM) Shortening of the hands, asymmetric 1 / 7739
11
(OMIM) Terminal transverse defects, asymmetric 3 / 7739
12
(OMIM) No defects reported 1 / 7739
13
(OMIM) No immune defects reported 1 / 7739
14
(OMIM) Reductions of the feet, asymmetric 1 / 7739
15
(HPO:0012745) Short palpebral fissure rare [HPO:skoehler] 47 / 7739
16
(OMIM) Aplasia cutis of scalp 2 / 7739
17
(OMIM) Cutis aplasia 2 / 7739
18
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hassed et al. (2012) described an autosomal dominant form of Adams-Oliver syndrome involving characteristic vertex scalp defects and terminal limb defects, but without congenital heart defects, other associated defects, or immune defects.

For a discussion of ...

Clinical Description OMIM Hassed et al. (2012) reported 2 families segregating autosomal dominant Adams-Oliver syndrome. In the first family, the female proband was noted to have cutis aplasia at birth and syndactyly of her second and third toes but otherwise normal ...
Molecular genetics OMIM Using a variant-filtering strategy to perform exome resequencing in 2 unrelated families with Adams-Oliver syndrome, Hassed et al. (2012) identified 2 different heterozygous missense mutations in the RBPJ gene (147183.0001 and 147183.0002) that segregated with disease in each ...