Multiple pterygium syndrome is a cutaneous condition inherited in an autosomal dominant fashion.[1]
Wikimedia Foundation. 2010.
multiple pterygium syndrome — 2. an autosomal recessive syndrome caused by mutations in the CHRNG gene (locus: 2q33 q34), which encodes an acetylcholine receptor subunit. It is characterized by pterygia of the neck, axillae, and popliteal, antecubital, and intercrural areas,… … Medical dictionary
pterygium syndrome — multiple pterygium s … Medical dictionary
lethal multiple pterygium syndrome — a lethal autosomal recessive disorder caused by mutations in any of several genes that encode acetylcholine receptor components, characterized by multiple pterygia, lung hypoplasia, flexion contractures of the limbs, characteristic facies, and… … Medical dictionary
syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… … Medical dictionary
Escobar syndrome — multiple pterygium s. (def. 1) … Medical dictionary
Liste der Syndrome — Diese Seite listet in alphabetischer Reihenfolge und ohne Anspruch auf Vollständigkeit Syndrome und Komplexe aus unterschiedlichen medizinischen Fachgebieten auf. Bitte nur Verweise auf den tatsächlichen Titel des Beitrags und keine… … Deutsch Wikipedia
Androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 E … Wikipedia
Partial androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 … Wikipedia
Ellis–van Creveld syndrome — Classification and external resources Polydactyly in Ellis–van Creveld syndrome ICD 10 Q … Wikipedia
Kabuki syndrome — Classification and external resources ICD 10 Q89.8 … Wikipedia
