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 (hypoplastic anemia). The exact cause of the syndrome is unknown. However, most evidence suggests that the disorder is inherited as an autosomal recessive trait. The syndrome is named for the American dysmorphologists (birth-defect experts) Jon Aase and David W. Smith. Alternative names for the syndrome include: Anemia and triphalangeal thumbs Congenital anemia and triphalangeal thumbs Hypoplastic anemia-triphalangeal thumbs, Aase-Smith type.

Medical dictionary. 2011.

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  • 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 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

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

  • 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

  • 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… …   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 — (September 24, 1926 – September 1981) was an American pediatrician and dysmorphologist. Smith was born in Oakland, California. He gained his medical degree from Johns Hopkins University School of Medicine and worked with Lawson Wilkins in the… …   Wikipedia

  • 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

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