Adams-Oliver syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: AOS
Congenital scalp defects with distal limb reduction anomalies
Limb, scalp and skull defects
Congenital scalp defects with distal limb anomalies
Number of Symptoms 74
OrphanetNr: 974
OMIM Id: 100300
614219
614814
615297
ICD-10: Q87.2
UMLs: C0265268
MeSH: C538225
MedDRA:
Snomed: 34748004

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic mixed dermis disorder
 -Rare genetic disease
Mixed dermis disorder
 -Rare skin disease
Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000119) Abnormality of the genitourinary system 34 / 7739
2
 (HPO:0001362) Calvarial skull defect Very frequent [Orphanet] 22 / 7739
3
 (HPO:0000252) Microcephaly 832 / 7739
4
 (HPO:0000175) Cleft palate 349 / 7739
5
 (HPO:0000568) Microphthalmia 183 / 7739
6
 (HPO:0002084) Encephalocele Occasional [Orphanet] 70 / 7739
7
 (HPO:0000204) Cleft upper lip 193 / 7739
8
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
9
 (HPO:0000565) Esotropia 58 / 7739
10
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
11
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
12
 (HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
13
 (HPO:0001249) Intellectual disability 1089 / 7739
14
 (HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
15
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
16
 (HPO:0001263) Global developmental delay 853 / 7739
17
 (HPO:0002353) EEG abnormality Occasional [Orphanet] 188 / 7739
18
 (HPO:0002558) Supernumerary nipple 40 / 7739
19
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
20
 (HPO:0004050) Absent hand Very frequent [Orphanet] 9 / 7739
21
 (HPO:0001547) Abnormality of the rib cage 25 / 7739
22
 (HPO:0011301) Absent foot Very frequent [Orphanet] 4 / 7739
23
 (HPO:0002814) Abnormality of the lower limb Very frequent [Orphanet] 23 / 7739
24
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
25
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
26
 (HPO:0009882) Short distal phalanx of finger Frequent [Orphanet] 125 / 7739
27
 (HPO:0001770) Toe syndactyly 149 / 7739
28
 (HPO:0001167) Abnormality of finger Frequent [Orphanet] 29 / 7739
29
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
30
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
31
 (HPO:0004060) Trident hand Frequent [Orphanet] 13 / 7739
32
 (HPO:0001622) Premature birth Occasional [Orphanet] 100 / 7739
33
 (HPO:0001409) Portal hypertension Occasional [Orphanet] 39 / 7739
34
 (HPO:0002612) Congenital hepatic fibrosis Occasional [Orphanet] 16 / 7739
35
 (HPO:0001541) Ascites Occasional [Orphanet] 94 / 7739
36
 (HPO:0002239) Gastrointestinal hemorrhage Occasional [Orphanet] 97 / 7739
37
 (HPO:0001394) Cirrhosis Occasional [Orphanet] 102 / 7739
38
 (HPO:0002040) Esophageal varix Occasional [Orphanet] 23 / 7739
39
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
40
 (HPO:0001800) Hypoplastic toenails Occasional [Orphanet] 74 / 7739
41
 (HPO:0000965) Cutis marmorata Very frequent [Orphanet] 46 / 7739
42
 (HPO:0007589) Aplasia cutis congenita on trunk or limbs 2 / 7739
43
 (HPO:0007590) Aplasia cutis congenita over posterior parietal area 2 / 7739
44
 (HPO:0001804) Hypoplastic fingernail Occasional [Orphanet] 62 / 7739
45
 (HPO:0001792) Small nail 55 / 7739
46
 (HPO:0001596) Alopecia Occasional [Orphanet] 162 / 7739
47
 (HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
48
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
49
 (HPO:0002624) Venous abnormality Occasional [Orphanet] 2 / 7739
50
 (HPO:0002092) Pulmonary hypertension Occasional [Orphanet] 109 / 7739
51
 (HPO:0004415) Pulmonary artery stenosis 25 / 7739
52
 (HPO:0001631) Atria septal defect 274 / 7739
53
 (HPO:0004414) Abnormality of the pulmonary artery Frequent [Orphanet] 50 / 7739
54
 (HPO:0001636) Tetralogy of Fallot Frequent [Orphanet] 104 / 7739
55
 (HPO:0001629) Ventricular septal defect 316 / 7739
56
 (HPO:0001642) Pulmonic stenosis 89 / 7739
57
 (HPO:0001641) Abnormality of the pulmonary valve Frequent [Orphanet] 27 / 7739
58
 (HPO:0001882) Leukopenia Occasional [Orphanet] 51 / 7739
59
 (HPO:0001873) Thrombocytopenia Occasional [Orphanet] 224 / 7739
60
 (HPO:0001252) Muscular hypotonia 990 / 7739
61
 (HPO:0002132) Porencephaly Occasional [Orphanet] 18 / 7739
62
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
63
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
64
 (HPO:0002126) Polymicrogyria 64 / 7739
65
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
66
 (HPO:0002119) Ventriculomegaly 253 / 7739
67
 (HPO:0040065) Abnormal morphology of bones of the upper limbs Very frequent [Orphanet] 25 / 7739
68
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
69
 (HPO:0001302) Pachygyria 60 / 7739
70
 (HPO:0040064) Abnormality of limbs Very frequent [Orphanet] 16 / 7739
71
 (HPO:0006970) Periventricular leukomalacia 7 / 7739
72
 (HPO:0002539) Cortical dysplasia 19 / 7739
73
 (HPO:0000238) Hydrocephalus Frequent [Orphanet] 278 / 7739
74
 (HPO:0003812) Phenotypic variability 129 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: