Klippel-Trenaunay syndrome

N Forbes1, M Walwyn1, G Rao2

  • 1Department of Medicine, Cornwall Regional Hospital, Kingston 7, Jamaica.

Summary

Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular disorder causing limb enlargement and venous malformations. Early suspicion in children with capillary hemangiomas and enlarged limbs is crucial for diagnosis.

Related Concept Videos

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
31.2K
Sex Linked Disorders01:43

Sex Linked Disorders

28.8K
Disorders of Hemostasis01:24

Disorders of Hemostasis

Hemostasis, the process that stops bleeding after a blood vessel injury, is crucial for maintaining the integrity of the circulatory system. However, disorders of hemostasis can disrupt this delicate balance, leading to either excessive clotting or bleeding. These disorders can be broadly classified into thromboembolic disorders and bleeding disorders.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
2.7K
Cardiovascular System Abnormal Findings I: Inspection and Palpation01:29

Cardiovascular System Abnormal Findings I: Inspection and Palpation

In a cardiovascular examination, inspection and palpation are crucial for identifying abnormalities.
Abnormal findings observed during an inspection
1.3K
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
20.5K