Klippel-Trénaunay syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: KTW SYNDROME
KLIPPEL-TRENAUNAY SYNDROME
ANGIOOSTEOHYPERTROPHY SYNDROME
KTS
Number of Symptoms 45
OrphanetNr: 90308
OMIM Id: 149000
ICD-10: Q87.2
UMLs:
MeSH:
MedDRA: 10051452
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Multifactorial
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:0000858) Menstrual irregularities Occasional [Orphanet] 42 / 7739
2
 (HPO:0000790) Hematuria Occasional [Orphanet] 106 / 7739
3
 (HPO:0000256) Macrocephaly Occasional [Orphanet] 298 / 7739
4
 (HPO:0000929) Abnormality of the skull Occasional [Orphanet] 53 / 7739
5
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
6
 (HPO:0000501) Glaucoma 180 / 7739
7
 (HPO:0001250) Seizures 1245 / 7739
8
 (HPO:0001249) Intellectual disability 1089 / 7739
9
 (HPO:0010442) Polydactyly 69 / 7739
10
 (HPO:0000924) Abnormality of the skeletal system Very frequent [Orphanet] 114 / 7739
11
 (HPO:0002817) Abnormality of the upper limb Very frequent [Orphanet] 25 / 7739
12
 (HPO:0001159) Syndactyly 140 / 7739
13
 (HPO:0012165) Oligodactyly 18 / 7739
14
 (HPO:0100559) Lower limb asymmetry Very frequent [Orphanet] 30 / 7739
15
 (HPO:0004099) Macrodactyly 5 / 7739
16
 (HPO:0001528) Hemihypertrophy 13 / 7739
17
 (HPO:0001789) Hydrops fetalis Occasional [Orphanet] 63 / 7739
18
 (HPO:0002239) Gastrointestinal hemorrhage Frequent [Orphanet] 97 / 7739
19
 (HPO:0001541) Ascites Occasional [Orphanet] 94 / 7739
20
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
21
 (HPO:0000098) Tall stature Frequent [Orphanet] 74 / 7739
22
 (HPO:0001052) Nevus flammeus Very frequent [Orphanet] 88 / 7739
23
 (HPO:0005606) Hyperpigmented nevi and streak 2 / 7739
24
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
25
 (HPO:0100784) Peripheral arteriovenous fistula Occasional [Orphanet] 9 / 7739
26
 (HPO:0004414) Abnormality of the pulmonary artery Occasional [Orphanet] 50 / 7739
27
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
28
 (HPO:0001635) Congestive heart failure Occasional [Orphanet] 232 / 7739
29
 (HPO:0004947) Arteriovenous fistula 3 / 7739
30
 (HPO:0005293) Venous insufficiency Very frequent [Orphanet] 27 / 7739
31
 (HPO:0001702) Abnormality of the tricuspid valve Occasional [Orphanet] 32 / 7739
32
 (HPO:0011029) Internal hemorrhage Occasional [Orphanet] 4 / 7739
33
 (HPO:0004936) Venous thrombosis Frequent [Orphanet] 41 / 7739
34
 (HPO:0001935) Microcytic anemia Occasional [Orphanet] 32 / 7739
35
 (HPO:0003010) Prolonged bleeding time Occasional [Orphanet] 88 / 7739
36
 (HPO:0100724) Hypercoagulability Occasional [Orphanet] 15 / 7739
37
 (HPO:0001004) Lymphedema 62 / 7739
38
 (HPO:0000969) Edema Occasional [Orphanet] 117 / 7739
39
 (HPO:0002204) Pulmonary embolism Frequent [Orphanet] 26 / 7739
40
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
41
 (HPO:0100764) Lymphangioma 11 / 7739
42
 (HPO:0003549) Abnormality of connective tissue Frequent [Orphanet] 22 / 7739
43
 (OMIM) Kasabach-Merritt syndrome 1 / 7739
44
 (OMIM) Large cutaneous hemangiomata, capillary and cavernous 1 / 7739
45
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Diagnosis OMIM By ultrasound examination, Christenson et al. (1997) made the prenatal diagnosis of KTW syndrome complicated by early fetal congestive heart failure. The postnatal course was complicated by Kasabach-Merritt syndrome (141000) of thrombocytopenia due to platelet consumption within the ...
Clinical Description OMIM The features of Klippel-Trenaunay-Weber syndrome are large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. The disorder clinically resembles Sturge-Weber syndrome (185300), and indeed the 2 have been associated in some cases (Harper, 1971). ...
Molecular genetics OMIM Sperandeo et al. (2000) described a family in which 1 first cousin had KTW syndrome and the other had Beckwith-Wiedemann syndrome (BWS; 130650). The probands, sons of 2 sisters, showed relaxation of the maternal IGF2 (147470) imprinting, although ...