Parkes Weber syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: PKWS
Number of Symptoms 14
OrphanetNr: 90307
OMIM Id: 608355
ICD-10: Q87.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Angio-osteohypertrophic syndrome
 -Rare bone disease
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
2
 (HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
3
 (HPO:0002315) Headache Occasional [Orphanet] 175 / 7739
4
 (HPO:0002817) Abnormality of the upper limb Very frequent [Orphanet] 25 / 7739
5
 (HPO:0100559) Lower limb asymmetry Very frequent [Orphanet] 30 / 7739
6
 (HPO:0011276) Vascular skin abnormality Occasional [Orphanet] 24 / 7739
7
 (HPO:0100585) Telangiectasia of the skin Very frequent [Orphanet] 66 / 7739
8
 (HPO:0001052) Nevus flammeus Very frequent [Orphanet] 88 / 7739
9
 (HPO:0005293) Venous insufficiency Frequent [Orphanet] 27 / 7739
10
 (HPO:0100784) Peripheral arteriovenous fistula Very frequent [Orphanet] 9 / 7739
11
 (HPO:0001635) Congestive heart failure Occasional [Orphanet] 232 / 7739
12
 (HPO:0003010) Prolonged bleeding time Very frequent [Orphanet] 88 / 7739
13
 (HPO:0003712) Skeletal muscle hypertrophy Very frequent [Orphanet] 42 / 7739
14
 (HPO:0040064) Abnormality of limbs Very frequent [Orphanet] 16 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Parkes Weber syndrome is characterized by a cutaneous flush with underlying multiple micro-AVFs (arteriovenous fistulas), in association with soft tissue and skeletal hypertrophy of the affected limb (Mulliken and Young, 1988).
Molecular genetics OMIM Six families reported by Eerola et al. (2003) manifested atypical capillary malformations (163000) associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome. They named this association CM-AVM for 'capillary malformation-arteriovenous malformation' (608354) and found mutation in ...