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 =
MeshID =

Aase-Smith syndromes are inherited deformities occurring in males characterised by a decreased production (hypoplasia) of red blood cells leading to anemia as well as certain joint contractures. They are named after Jon Morton Aase and David Weyhe Smith. [WhoNamedIt|synd|1858|Aase-Smith syndrome]

Aase-Smith syndrome type I also involves hydrocephalus (due to Dandy-Walker anomaly) and cleft palate.

Aase-Smith syndrome type II has as a feature triphalangeal thumbs with three rather than the normal two phalanx bones in the thumb. [cite web|title=Definition of Aase-Smith syndrome II |url=http://www.medterms.com/script/main/art.asp?articlekey=15593 |date=6/7/2003 |publisher=MedicineNet |accessdate=2007-12-02] It is the same as Diamond-Blackfan anemia

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Look at other dictionaries:

  • 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

  • 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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