PELVIS syndrome
PELVIS syndrome (pronounced: /ˈpɛlvɪs/), is a rare medical condition that is characterized by Perineal Hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tags. The syndrome was first described in the medical literature in 2009.
Etymology
The term "PELVIS" is an acronym that stands for the main features of the syndrome: Perineal Hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tags.
Symptoms and Signs
The symptoms of PELVIS syndrome can vary greatly among affected individuals. The most common symptoms include:
- Perineal Hemangioma: A benign tumor of blood vessels that appears as a red or purple birthmark.
- External genitalia malformations: Abnormalities in the external parts of the male or female reproductive system.
- Lipomyelomeningocele: A type of Spina Bifida where a fatty mass is present in the spinal cord.
- Vesicorenal abnormalities: Abnormalities in the kidneys or urinary system.
- Imperforate anus: A birth defect where the rectum is malformed.
- Skin tags: Small, soft skin growths.
Diagnosis
Diagnosis of PELVIS syndrome is based on the presence of the characteristic symptoms. Additional tests such as MRI, Ultrasound, and Genetic testing may be used to confirm the diagnosis and assess the severity of the condition.
Treatment
Treatment for PELVIS syndrome is symptomatic and supportive, and may include surgery to correct malformations, medication to manage symptoms, and physical therapy to improve mobility and function.
See Also
- Perineal Hemangioma
- External genitalia malformations
- Lipomyelomeningocele
- Vesicorenal abnormalities
- Imperforate anus
- Skin tags
External links
- Medical encyclopedia article on PELVIS syndrome
- Wikipedia's article - PELVIS syndrome
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