Anemia and triphalangeal thumbs

Anemia and triphalangeal thumbs
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. Alternative names for the syndrome: Aase-Smith syndrome II Congenital anemia and triphalangeal thumbs Hypoplastic anemia-triphalangeal thumbs, Aase-Smith type.

Medical dictionary. 2011.

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  • Congenital anemia and triphalangeal thumbs — 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

  • 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-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

  • 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

  • Congenital — Present at birth. A condition that is congenital is one that is present at birth. There are numerous uses of congenital in medicine. There are, for example, congenital abnormalities. (For more examples, see below.) Versus genetic : One dictionary …   Medical dictionary

  • List of diseases (F) — A list of diseases in the English wikipedia.DiseasesTOC FaFab* Fabry s diseaseFacFace Faci* Faces syndrome * Facial asymmetry temporal seizures * Facial clefting corpus callosum agenesis * Facial dysmorphism macrocephaly myopia Dandy Walker type… …   Wikipedia

  • List of diseases (R) — A list of diseases in the English wikipedia.DiseasesTOC RaRab Rai* Rabies * Rabson Mendenhall syndrome * Radial defect Robin sequence * Radial hypoplasia, triphalangeal thumbs and hypospadias * Radial ray agenesis * Radial ray hypoplasia choanal… …   Wikipedia

  • 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 syndrome — a familial syndrome characterized by mild growth retardation, hypoplastic anemia, variable leukocytopenia, triphalangeal thumbs, narrow shoulders, and late closure of fontanels, and occasionally by cleft lip, cleft palate, retinopathy, and web… …   Medical dictionary

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