Syndrome, Aase-Smith I

Syndrome, Aase-Smith I
A syndrome of congenital malformations (birth defects) characterized by hydrocephalus, cleft palate, and severe arthrogryposis (joint contractures). Other anomalies may include deformed ears, ptosis (drooping) of the eyelids, inability to open the mouth fully, heart defects, and clubfoot. The fingers are thin with absent knuckles, reduced creases over the joints and inability to make a full fist. The syndrome is inherited as an autosomal dominant trait, transmitted from generation to generation, affecting both males and females. It is named for the American dysmorphologists (birth-defect experts) Jon Aase and David W. Smith.

Medical dictionary. 2011.

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  • Syndrome, Aase-Smith II — A genetic disorder that may be detected during early infancy and is characterized by the presence of three bones (phalanges) within the thumbs (triphalangeal thumbs) rather than the normal two and abnormally reduced production of red blood cells… …   Medical dictionary

  • Aase-Smith syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 29332 ICD10 = ICD10|Group|Major|minor|LinkGroup|LinkMajor ICD9 = ICD9|xxx ICDO = OMIM = 147800 OMIM mult = type I, OMIM2|105650 type II MedlinePlus = 001662 eMedicineSubj = eMedicineTopic =… …   Wikipedia

  • Aase-Smith-Syndrom — Klassifikation nach ICD 10 Q87.8 Sonstige angeborene Fehlbildungssyndrome, andernorts nicht klassifiziert …   Deutsch Wikipedia

  • Aase-Smith syndrome II — A genetic disorder that may be detected during early infancy and is characterized by the presence of three bones (phalanges) within the thumbs (triphalangeal thumbs) rather than the normal two and abnormally reduced production of red blood cells… …   Medical dictionary

  • Aase-Smith syndrome I — A syndrome of congenital malformations (birth defects) characterized by hydrocephalus, cleft palate, and severe arthrogryposis (joint contractures). Other anomalies may include deformed ears, ptosis (drooping) of the eyelids, inability to open… …   Medical dictionary

  • Hypoplastic anemia-triphalangeal thumbs, Aase-Smith type — A genetic disorder that may be detected during early infancy and is characterized by the presence of three bones (phalanges) within the thumbs (triphalangeal thumbs) rather than the normal two and abnormally reduced production of red blood cells… …   Medical dictionary

  • Aase syndrome — Infobox Disease Name = Aase syndrome Caption = DiseasesDB = 29332 ICD10 = ICD9 = ICDO = OMIM = 147800 MedlinePlus = eMedicineSubj = eMedicineTopic = Aase syndrome or Aase Smith syndrome is a rare inherited disorder characterized by anemia with… …   Wikipedia

  • Aase-Syndrom — Klassifikation nach ICD 10 D61.0 Angeborene aplastische Anämie Blackfan Diamond Anämie …   Deutsch Wikipedia

  • David Weyhe Smith — (* 24. September 1926 in Oakland; † September 1981 in Seattle) ist ein amerikanischer Pädiater und Morphologe. Nach ihm und seinen Kollegen sind die Syndrome Aase Smith, Marshall Smith, Ruvalcaba Myhre Smith, Smith Lemli Opitz I und II, Smith… …   Deutsch Wikipedia

  • David W. Smith — (David Weyhe Smith; * 24. September 1926 in Oakland; † September 1981 in Seattle) war ein amerikanischer Pädiater und Morphologe. Nach ihm und seinen Kollegen sind die Syndrome Aase Smith, Marshall Smith, Ruvalcaba Myhre Smith, Smith Lemli Opitz… …   Deutsch Wikipedia

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