ADAMS-OLIVER SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: AOS2
Number of Symptoms 49
OrphanetNr:
OMIM Id: 614219
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:0000316) Hypertelorism 644 / 7739
2
(HPO:0000528) Anophthalmia 42 / 7739
3
(HPO:0011478) True anophthalmia 17 / 7739
4
(HPO:0000568) Microphthalmia rare [HPO:skoehler] 183 / 7739
5
(HPO:0000519) Congenital cataract rare [HPO:skoehler] 73 / 7739
6
(HPO:0000648) Optic atrophy rare [HPO:skoehler] 238 / 7739
7
(HPO:0000486) Strabismus rare [HPO:skoehler] 576 / 7739
8
(HPO:0001252) Muscular hypotonia 990 / 7739
9
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
10
(HPO:0010547) Muscle flaccidity 466 / 7739
11
(HPO:0001324) Muscle weakness 859 / 7739
12
(HPO:0001263) Global developmental delay 853 / 7739
13
(HPO:0001250) Seizures 1245 / 7739
14
(HPO:0001562) Oligohydramnios 75 / 7739
15
(HPO:0000954) Single transverse palmar crease 162 / 7739
16
(HPO:0000347) Micrognathia 426 / 7739
17
(HPO:0000294) Low anterior hairline 52 / 7739
18
(HPO:0000256) Macrocephaly rare [HPO:skoehler] 298 / 7739
19
(HPO:0001355) Megalencephaly 39 / 7739
20
(HPO:0000252) Microcephaly 832 / 7739
21
(HPO:0004482) Relative macrocephaly 44 / 7739
22
(HPO:0002162) Low posterior hairline 88 / 7739
23
(HPO:0001792) Small nail 55 / 7739
24
(HPO:0000414) Bulbous nose 63 / 7739
25
(HPO:0005280) Depressed nasal bridge 381 / 7739
26
(HPO:0000369) Low-set ears 372 / 7739
27
(HPO:0009904) Prominent ear helix 8 / 7739
28
(HPO:0000411) Protruding ear rare [HPO:skoehler] 140 / 7739
29
(HPO:0000965) Cutis marmorata 46 / 7739
30
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
31
(HPO:0002059) Cerebral atrophy rare [HPO:skoehler] 171 / 7739
32
(HPO:0002120) Cerebral cortical atrophy 187 / 7739
33
(HPO:0002126) Polymicrogyria rare [HPO:skoehler] 64 / 7739
34
(HPO:0006951) Retrocerebellar cyst rare [HPO:skoehler] 6 / 7739
35
(HPO:0045025) Narrow palpebral fissure 8 / 7739
36
(OMIM) Aplasia cutis congenita of the scalp 2 / 7739
37
(OMIM) Bitemporal depression (rare) 1 / 7739
38
(OMIM) Calcifications of cerebral ventricles 1 / 7739
39
(OMIM) Cerebellar hypoplasia, mild asymmetric (rare) 1 / 7739
40
(OMIM) Dilation of cerebral ventricles 1 / 7739
41
(OMIM) Facial dysmorphism, mild 3 / 7739
42
(OMIM) Lymphedema, of upper and/or lower extremity (rare) 2 / 7739
43
(OMIM) Prominent veins on scalp, trunk, and/or extremities 1 / 7739
44
(OMIM) Rod dystrophy (rare) 1 / 7739
45
(OMIM) Shortened digits 1 / 7739
46
(OMIM) Small palpebral fissures 6 / 7739
47
(OMIM) Terminal transverse defects, asymmetric 3 / 7739
48
(OMIM) Vitreoretinal abnormalities, congenital (rare) 1 / 7739
49
(OMIM) Webbing, interdigital 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome that is characterized by aplasia cutis congenita and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et ...
Clinical Description OMIM Koiffmann et al. (1988) reported a Brazilian family with Adams-Oliver syndrome suggesting autosomal recessive inheritance. The proband, born of unaffected first cousins, had a congenital scalp defect with hypoplastic fingers and toes. Among 7 sibs, 3 sisters and ...
Molecular genetics OMIM By combining autozygome data with next-generation sequencing in an 11-month-old Arab girl with autosomal recessive AOS, Shaheen et al. (2011) identified a homozygous 4-bp deletion in the DOCK6 gene (614194.0001), which was found in heterozygosity in her unaffected ...