ADAMS-OLIVER SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: CONGENITAL SCALP DEFECTS WITH DISTAL LIMB REDUCTION ANOMALIES
ABSENCE DEFECT OF LIMBS, SCALP, AND SKULL
APLASIA CUTIS CONGENITA WITH TERMINAL TRANSVERSE LIMB DEFECTS APLASIA CUTIS CONGENITA, CONGENITAL HEART DEFECT, AND FRONTONASAL CYSTS, INCLUDED
AOS1
AOS
Number of Symptoms 46
OrphanetNr:
OMIM Id: 100300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant 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:0000252) Microcephaly 832 / 7739
2
(HPO:0002084) Encephalocele 70 / 7739
3
(HPO:0000568) Microphthalmia 183 / 7739
4
(HPO:0011815) Cephalocele 5 / 7739
5
(HPO:0000204) Cleft upper lip 193 / 7739
6
(HPO:0000175) Cleft palate 349 / 7739
7
(HPO:0000565) Esotropia 58 / 7739
8
(HPO:0001263) Global developmental delay 853 / 7739
9
(HPO:0001250) Seizures 1245 / 7739
10
(HPO:0001249) Intellectual disability 1089 / 7739
11
(HPO:0002558) Supernumerary nipple 40 / 7739
12
(HPO:0001159) Syndactyly 140 / 7739
13
(HPO:0001762) Talipes equinovarus 309 / 7739
14
(HPO:0004476) Aplasia cutis congenita over parietal area 1 / 7739
15
(HPO:0007589) Aplasia cutis congenita on trunk or limbs 2 / 7739
16
(HPO:0007590) Aplasia cutis congenita over posterior parietal area 2 / 7739
17
(HPO:0001792) Small nail 55 / 7739
18
(HPO:0000965) Cutis marmorata 46 / 7739
19
(HPO:0001631) Atria septal defect 274 / 7739
20
(HPO:0002092) Pulmonary hypertension 109 / 7739
21
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
22
(HPO:0001636) Tetralogy of Fallot 104 / 7739
23
(HPO:0001629) Ventricular septal defect 316 / 7739
24
(HPO:0100026) Arteriovenous malformation 38 / 7739
25
(HPO:0001642) Pulmonic stenosis 89 / 7739
26
(HPO:0004415) Pulmonary artery stenosis 25 / 7739
27
(HPO:0001324) Muscle weakness 859 / 7739
28
(HPO:0010547) Muscle flaccidity 466 / 7739
29
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
30
(HPO:0001252) Muscular hypotonia 990 / 7739
31
(HPO:0001302) Pachygyria 60 / 7739
32
(OMIM) Thin, hyperpigmented skin 1 / 7739
33
(HPO:0006970) Periventricular leukomalacia 7 / 7739
34
(HPO:0002539) Cortical dysplasia 19 / 7739
35
(OMIM) Imperforate vaginal hymen 1 / 7739
36
(OMIM) Skull defect at vertex 1 / 7739
37
(HPO:0002126) Polymicrogyria 64 / 7739
38
(OMIM) Malformed toes 2 / 7739
39
(HPO:0002119) Ventriculomegaly 253 / 7739
40
(OMIM) Periventricular calcifications 1 / 7739
41
(OMIM) Poland sequence 1 / 7739
42
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
43
(OMIM) Terminal transverse defects, asymmetric 3 / 7739
44
(MedDRA:10072883) Brachydactyly 153 / 7739
45
(OMIM) Single-multiple round-oval areas of alopecia in parietal area 1 / 7739
46
(OMIM) Dilated scalp veins radiating from periphery of scalp defect 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Adams-Oliver syndrome (AOS) is characterized by the congenital absence of skin, known as 'aplasia cutis congenita,' usually limited to the scalp vertex, and transverse limb defects. The clinical features are highly variable and can also include vascular defects, ...
Clinical Description OMIM Adams and Oliver (1945) reported a boy with absence of the lower extremities below the midcalf region, absence of all digits and some of the metacarpals of the right hand, a denuded ulcerated area on the vertex of ...
Molecular genetics OMIM Verdyck et al. (2006) presented a Belgian family in which 10 individuals over 4 generations had Adams-Oliver syndrome, 6 of whom were available for study. Clinical symptoms were variable, as reported in other families, and included large areas ...