Boylan-Dew-Syndrom

Klassifikation nach ICD-10
Q68.8 Sonstige näher bezeichnete angeborene Muskel-Skelett-Deformitäten
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ICD-10 online (WHO-Version 2019)

Das Boylan-Dew-Syndrom ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen einer Arthrogryposis multiplex congenita kombiniert mit bei Geburt bestehender Lähmung. Meistens führt die Erkrankung innerhalb weniger Lebensmonate zum Tode.[1]

Synonyme sind: Neuropathie, hypomyelinisierte – Arthrogrypose, autosomal-rezessiv; englisch Boylan Dew Greco syndrome

Die Namensbezeichnung bezieht sich auf die Autoren der Erstbeschreibung aus dem Jahre 1992 durch die US-amerikanischen Ärzte Kevin B. Boylan, Donna M. Ferriero, Claudia M. Greco, R. Ann Sheldon und Michael Dew.[2]

Verbreitung

Die Häufigkeit wird mit unter 1 zu 1.000.000 angegeben, die Vererbung erfolgt autosomal-rezessiv.[1]

Ursache

Orphanet verlinkt das Syndrom mit folgenden Einträgen in Online Mendelian Inheritance in Man (OMIM):

  • Syndrom der letalen Kontrakturen Typ 7, Mutationen im CNTNAP1-Gen auf Chromosom 17 Genort q21.2[3]
  • Syndrom der letalen Kontrakturen Typ 8, Mutationen im ADCY6-Gen auf Chromosom 12 Genort q13.12[4]
  • Arthrogryposis multiplex congenita mit Myelindefekt, Mutationen im LGI4-Gen auf Chromosom 19 Genort q13.12[5]
  • Kongenitale Hypomyelinisierende Neuropathie Typ 3, Mutationen im CNTNAP1-Gen auf Chromosom 17 Genort q21.2[6]

Klinische Erscheinungen

Klinische Kriterien sind:[1]

Literatur

  • B. Kowalczyk, J. Feluś: Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies. In: Archives of Medical Science. Band 12, Nummer 1, Februar 2016, S. 10–24, doi:10.5114/aoms.2016.57578, PMID 26925114, PMC 4754365 (freier Volltext).

Einzelnachweise

  1. ↑ a b c Eintrag zu Hypomyelinisierung-Neuropathie-Arthrogrypose-Syndrom. In: Orphanet (Datenbank für seltene Krankheiten)
  2. ↑ K. B. Boylan, D. M. Ferriero u. a.: Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita. In: Annals of Neurology. 31, 1992, S. 337, doi:10.1002/ana.410310318.
  3. ↑ Lethal congenital contracture syndrome 7. In: Online Mendelian Inheritance in Man. (englisch)
  4. ↑ Lethal congenital contracture syndrome 8. In: Online Mendelian Inheritance in Man. (englisch)
  5. ↑ Arthrogryposis multiplex congenita, neurogenic, with myelin defect. In: Online Mendelian Inheritance in Man. (englisch)
  6. ↑ Hypomyelinating neuropathy, congenital, 3. In: Online Mendelian Inheritance in Man. (englisch)

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