Hirsutism - skeletal dysplasia - intellectual deficit

General Information (adopted from Orphanet):

Synonyms, Signs: Wiedemann-Oldigs-Oppermann syndrome
Number of Symptoms 47
OrphanetNr: 2156
OMIM Id: 142625
ICD-10: Q87.5
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: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000159) Abnormality of the lip Very frequent [Orphanet] 33 / 7739
2
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
3
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
4
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
5
 (HPO:0000520) Proptosis Very frequent [Orphanet] 192 / 7739
6
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
7
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
8
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
9
 (HPO:0002645) Wormian bones Very frequent [Orphanet] 65 / 7739
10
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
11
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
12
 (HPO:0000472) Long neck 8 / 7739
13
 (HPO:0000232) Everted lower lip vermilion 90 / 7739
14
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
15
 (HPO:0000483) Astigmatism Very frequent [Orphanet] 67 / 7739
16
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Very frequent [Orphanet] 41 / 7739
17
 (HPO:0000598) Abnormality of the ear Very frequent [Orphanet] 98 / 7739
18
 (HPO:0001249) Intellectual disability 1089 / 7739
19
 (HPO:0002652) Skeletal dysplasia 113 / 7739
20
 (HPO:0009623) Proximal placement of thumb Very frequent [Orphanet] 50 / 7739
21
 (HPO:0001761) Pes cavus 225 / 7739
22
 (HPO:0009811) Abnormality of the elbow Very frequent [Orphanet] 30 / 7739
23
 (HPO:0100818) Long thorax Very frequent [Orphanet] 10 / 7739
24
 (HPO:0006660) Aplastic clavicles Very frequent [Orphanet] 70 / 7739
25
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
26
 (HPO:0002673) Coxa valga 57 / 7739
27
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
28
 (HPO:0200021) Down-sloping shoulders 18 / 7739
29
 (HPO:0000768) Pectus carinatum Very frequent [Orphanet] 136 / 7739
30
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
31
 (HPO:0011362) Abnormal hair quantity Very frequent [Orphanet] 92 / 7739
32
 (HPO:0001007) Hirsutism 91 / 7739
33
 (HPO:0002149) Hyperuricemia Very frequent [Orphanet] 37 / 7739
34
 (HPO:0002777) Tracheal stenosis Very frequent [Orphanet] 35 / 7739
35
 (OMIM) Prominent manubrium 1 / 7739
36
 (OMIM) Hip joint subluxation 1 / 7739
37
 (OMIM) Pain, swelling, and redness of finger joints 1 / 7739
38
 (OMIM) Elevated serum uric acid 1 / 7739
39
 (OMIM) Hallux subluxation 1 / 7739
40
 (OMIM) Reduced renal excrion of uric acid 1 / 7739
41
 (MedDRA:10057689) Acquired claw toe 4 / 7739
42
 (OMIM) Growth long and narrow 1 / 7739
43
 (OMIM) Abnormal thumb position 1 / 7739
44
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
45
 (OMIM) Prominent elbow joints 1 / 7739
46
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
47
 (OMIM) Hypertelorism, mild 11 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wiedemann et al. (1993) described a well-studied patient followed from infancy to age 19 years. He was born to a 34-year-old mother and an unrelated 37-year-old father. Features of the syndrome from which the patient suffered included extraordinary ...