Related Genetic Disorders and Overgrowth Syndromes

About Related Genetic Disorders and Overgrowth Syndromes

Some vascular anomalies are caused by regional changes in genes that play an important role in guiding blood vessel development and the growth of normal structures. These genes include PIK3CA, GNAQ, GNA11, among others. Columbia vascular anomaly specialists perform genetic counseling and testing to accurately diagnose and treat your child's vein, capillary, or lymphatic system disorder.  Some vascular anomalies with a genetic component include:

• Capillary Malformation-Arteriovenous Malformation (CM-AVM) — a congenital malformation that is composed of a network of abnormal blood vessels. These vessels are often tangled and irregular and can cause serious health problems if they bleed. Parkes-Weber syndrome is a form of CM-AVM.
• Klippel-Trenaunay Syndrome — this rare disorder is a combination of port wine stain birthmark combined with venous and lymphatic anomaly and overgrowth of a limb.
• Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevis, Spinal/Skeletal Anomalies/Scoliosis (CLOVES) — a very rare congenital disorder with a combination of skin, vascular, spine and joint or bone abnormalities and non-cancerous fatty tumors.
• Megalencephaly-capillary malformation syndrome (MCAP) — a very rare disorder in which there is a capillary malformation that is often widespread and patchy and associated with overgrowth of the brain tissue
• CLAPO — a rare, complex vascular malformation syndrome in which patients have a capillary and lymphatic malformation of the lip associated with regional malformation and overgrowth.
• Proteus Syndrome — a rare condition in which there is an overgrowth of the bones, skin, and other tissues creating an asymmetric appearance.
• PTEN-related overgrowth syndrome (Bannayan-Riley-Ruvalcaba syndrome (BRRS) — a rare genetic disorder that is noticed at birth and is diagnosed by a large head size (macrocephaly), pigmented spots on the penis and non-cancerous tumors or tumor-like cysts in the intestines and arteriovenous malformations.

Symptoms

Some symptoms include an asymmetry or overgrowth of one part of the body. Depending on the location, the symptoms may differ. There is also a risk for developing other internal tumors and having pain.

Diagnosis

Vascular anomalies that involve the capillaries, veins, and/or the lymphatic system can occur in combination with known genetic disorders. Columbia's pediatric geneticists are members of the Vascular Anomalies Group and work to determine whether there is an underlying genetic cause for your child's condition. We provide education, support, and counseling for patients and families undergoing evaluation. Children and their families may be referred to our genetics team to:

• Confirm a clinical diagnosis in a child with a vascular anomaly. 
• Find children at-risk for developing an anomaly.
• Receive genetic counseling and assess the risk of a recurrence.

Treatments We Offer 

Columbia specialists use a variety of procedures, such as:

• Compression therapy if there is a swelling of the limbs.
• Patients who experience pain and discomfort may be offered pharmacotherapy or drug therapies.
• Surgery such as sclerotherapy, embolization, and surgical resection if vascular malformations are present.
• If there is facial asymmetry, craniofacial and orthognathic surgical correction may be indicated.
• If there is limb asymmetry, consultation with our orthopedic surgeons for correction and therapy or surgery.

The treatment we offer at Columbia is always tailored according to the patient’s symptoms.

Why Choose Columbia?

Although many overgrowth syndromes can be rare, if your child has it, you will want the experienced team at Columbia to diagnose and treat your child with the most advanced and innovative techniques.