Aasesyndrome is a rare, autosomal recessive genetic disorder characterized by congenital hypoplastic anemia (CHA) and triphalangeal thumbs (TPT).
Several other physical abnormalities have been described in individuals with Aasesyndrome, including narrow shoulders, hypoplastic radius (underdevelopment of one of the bones of the lower arm), heart defect, cleft lip/palate, and late closure of the fontanelles (soft spots on an infant's skull where the bones have not yet fused).
The specific cause of Aasesyndrome is not known, but recurrence of the condition in siblings implies an abnormal gene is responsible.
Rare Pediatric Disease Database(Site not responding. Last check: 2007-10-30)
Aasesyndrome is a rare genetic disorder in which infants are born with anemia and joint and skeletal problems.
However, we do know that Aasesyndrome is an autosomaldominant inherited disorder, which means that a child will develop the condition if he or she acquires one abnormal copy of a gene from either parent.
Also, the anemia that is associated with Aasesyndrome is caused by an underdevelopment of bone marrow, which is the soft center of bones where the blood cells are made.
Jon Morton Aase is reckoned as the pre-eminent authority on the foetal alcohol syndrome, the most common cause of mental deficiency.
Aase is the author or co-author of over forty-five articles in the area of dysmorphology.
He developed the FAS Clinical Checklist and Screening Protocol for the Centers for Disease Control, and in early 2000 was conducting a Study of the Epidemiology of FAS in New Mexico for the Centers for Disease Control.
Aasesyndrome Information Diseases Database - Aasesyndrome: may cause or feature + (Follow link for list); belong(s) to the category of + (Follow link for list).
Synonyms Disorder Subdivisions General Discussion Resources Aasesyndrome is a rare genetic disorder that may be detected during early infancy.
Causes, incidence, and risk factors: Aasesyndrome is thought to be an autosomal recessive inherited disorder.
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 the mouth fully, heart defects, and clubfoot.
The syndrome is inherited as an autosomaldominant trait, transmitted from generation to generation, affecting both males and females.
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 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.
Disease - Aasesyndrome - Hartford, Connecticut CT About Us
Reviewed By: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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Aase-Smith syndrome II definition - Medical Dictionary definitions of popular medical terms
Definition of Aase-Smith syndrome II 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).