Synonym(s)
Champion Cregan Klein Syndrome; Kopits-Matolsky syndrome; Pike and jarvine syndrome; Popliteal pterygium syndrome; Pterygium syndrome of the popliteal fossa
HistoryThis section has been translated automatically.
Trélat, 1869; Bash, 1891; Fevre and Languepin, 1962
DefinitionThis section has been translated automatically.
Congenital, probably mostly autosomal dominant inherited syndrome with multiple malformations.
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EtiopathogenesisThis section has been translated automatically.
Autosomal-dominantly inherited mutations of the IRF6 gene(popliteal pterygium syndrome gene/gene locus 1q32-q41) with consecutive defect of "interferon regulatory factor 6".
Clinical featuresThis section has been translated automatically.
Pterygias in the popliteal region containing the ischiadicus nerve with consecutive severe gait obstruction, pointed foot; pterygias of the perianal region. Multiple café-au-lait stains and melanocytic naevi. Lower lip fistulas, cleft lip and palate. Syndactyly of fingers, thumb hypoplasia, hypogonadism.
TherapyThis section has been translated automatically.
A causal therapy is not known. Plastic surgery corrections as far as possible. Dermatological control of melanocytic naevi and café-au-lait stains. Genetic counseling.
LiteratureThis section has been translated automatically.
- Basch K (1891) On so-called flight skin formation in humans. Prague medical weekly 16: 572-573
- Fevre M, Languepin A (1962) Webbing of the thighs and legs containing the sciatic nerve. The popliteal webbing syndrome and multiple malformations. (Cleft palate, fistulas of the lower lip, syndactylia of the toes). Press Med 70: 615-618
- Trélat U (1869) Sur un vice conformation trés rare de la lévre inférieure. Journal de médecine et de chirurgie pratiques. 40: 442
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Incoming links (8)
Anonychia-electrodactyly syndrome; Café-au-lait stain; Champion cregan klein syndrome; IRF6 Gene; Kopits-matolsky syndrome; Pike and jarvine syndrome; Pterygium of the skin; Pterygium syndrome of the popliteal fossa;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer