📂 Diseases
marfanoid hypermobility syndrome — Definition
Marfanoid hipermobilite sendromu / marfanoid hypermobility syndrome
Marfanoid hypermobility syndrome is a rare genetic disorder, characterized by excessive flexibility (hypermobility) and bonding tissue weakness in joints along with physical properties (long size, long limbs, araknomintili). This syndrome usually shows autozomal dominant inheritance and is associated with mutations in FBN1 or other connective tissue genes. The clinical findings include joint dislocations, chronic pain, scoliosis, mitral cover prolapse and aorative root dilatation. The diagnosis is subject to clinical evaluation and genetic tests, the treatment requires a multidisciplinary approach for symptoms.
Disease Definition
🔬 Disease Definition
Marfanoid hipermobilite sendromu, Marfan sendromu ve hipermobilite spektrum bozukluklarının özelliklerini birleştiren, bağ dokusu anormallikleri ile karakterize nadir bir genetik hastalıktır. Genellikle iskelet sistemi, kardiyovasküler sistem ve eklemlerde hipermobilite ile kendini gösterir.
🧬 Causes & Risk Factors
Genetik mutasyonlardan kaynaklanır, çoğunlukla FBN1 genindeki değişikliklerle ilişkilidir. Otozomal dominant kalıtım paterni gösterir, ancak sporadik vakalar da görülebilir.
🩺 Symptoms & Signs
Uzun boy, uzun ekstremiteler, araknodaktili, eklem hipermobilitesi, skolyoz, göğüs deformiteleri (pectus excavatum/carinatum), miyopi, lens dislokasyonu, aort kökü dilatasyonu, mitral kapak prolapsusu, ciltte aşırı elastikiyet ve yara izi oluşumu.
📋 Diagnostic Methods
Ghent kriterleri modifiye edilerek kullanılır; fizik muayene, eklem hipermobilitesi değerlendirmesi (Beighton skoru), ekokardiyografi, göz muayenesi, genetik test (FBN1 analizi) ile tanı konur.
💊 Treatment Options
Semptomatik tedavi uygulanır: beta-blokerler (aort dilatasyonu için), fizik tedavi (eklem stabilizasyonu), ortopedik müdahaleler (skolyoz için), düzenli kardiyolojik takip, göz muayenesi ve gerektiğinde cerrahi (aort replasmanı).
⚠️ Complications
Aort diseksiyonu, mitral kapak yetmezliği, retinal dekolman, glokom, kronik eklem ağrısı, dislokasyonlar, osteoartrit, solunum problemleri (skolyoza bağlı).
Frequently Asked Questions
❓ What is Marfanoid hipermobilite sendromu?
Marfanoid hipermobilite sendromu; marfanoid hypermobility syndrome is a rare genetic disorder, characterized by excessive flexibility (hypermobility) and bonding tissue weakness in joints along with physical properties (long size, long limbs, araknomintili). This syndrome usually shows autozomal dominant inheritance and is associated with mutations in FBN1 or other connective tissue genes. The clinical findings include joint dislocations, chronic pain, scoliosis, mitral cover prolapse and aorative root dilatation. The diagnosis is subject to clinical evaluation and genetic tests, the treatment requires a multidisciplinary approach for symptoms.
❓ What is marfanoid hypermobility syndrome in Turkish?
The Turkish equivalent of "marfanoid hypermobility syndrome" is Marfanoid hipermobilite sendromu.
❓ Which medical field is Marfanoid hipermobilite sendromu related to?
This term belongs to the Diseases category.