Popliteal pterygium syndrome lethal type
Popliteal Pterygium Syndrome Lethal Type Popliteal Pterygium Syndrome Lethal Type (PPS-LT) is a rare genetic disorder characterized by a combination of congenital malformations. This condition is considered a severe form of Popliteal Pterygium Syndrome (PPS), which is a group of disorders that affect the development of the skin, muscles, and other tissues.
Clinical Features[edit | edit source]
Individuals with Popliteal Pterygium Syndrome Lethal Type typically present with a range of clinical features, including:
- Popliteal pterygium: Webbing of skin behind the knee, which can restrict movement.
- Cleft lip and/or palate: A split or opening in the upper lip and/or the roof of the mouth.
- Genital abnormalities: Such as cryptorchidism (undescended testes) in males.
- Syndactyly: Fusion of fingers or toes.
- Facial anomalies: Including micrognathia (small jaw) and other craniofacial dysmorphisms.
Genetic Basis[edit | edit source]
PPS-LT is caused by mutations in the IRF6 gene, which plays a crucial role in the development of the face and limbs. The inheritance pattern is typically autosomal dominant, meaning a single copy of the mutated gene can cause the disorder.
Diagnosis[edit | edit source]
Diagnosis of Popliteal Pterygium Syndrome Lethal Type is based on clinical evaluation and genetic testing. Prenatal diagnosis may be possible through ultrasound and genetic testing if there is a known family history.
Management[edit | edit source]
Management of PPS-LT is challenging due to the severity of the condition. Treatment is usually supportive and may involve:
- Surgical interventions: To correct cleft lip/palate and release pterygium.
- Multidisciplinary care: Involving pediatricians, geneticists, surgeons, and other specialists.
Prognosis[edit | edit source]
The prognosis for individuals with Popliteal Pterygium Syndrome Lethal Type is generally poor due to the severity of the malformations and associated complications. Many affected individuals may not survive beyond infancy.
Related Conditions[edit | edit source]
See Also[edit | edit source]
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
Popliteal pterygium syndrome lethal type is a rare disease.
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
