Medical Definition of Pfaundler-Hurler syndrome

1. Mucopolysaccharidosis in which there is a deficiency of alpha-l-iduronidase, an accumulation of an abnormal intracellular material, and excretion of dermatan sulfate and heparan sulfate in the urine; with severe abnormality in development of skeletal cartilage and bone, with dwarfism, kyphosis, deformed limbs, limitation of joint motion, spadelike hand, corneal clouding, hepatosplenomegaly, mental retardation, and gargoyle-like facies; autosomal recessive inheritance. See: mucolipidosis. Synonym: dysostosis multiplex, Hurler's disease, lipochondrodystrophy, Pfaundler-Hurler syndrome, type IH mucopolysaccharidosis. (05 Mar 2000)



Pfaundler-Hurler Syndrome Pictures

Click the following link to bring up a new window with an automated collection of images related to the term: Pfaundler-Hurler Syndrome Images

Lexicographical Neighbors of Pfaundler-Hurler Syndrome

Peyton
Peyton Rous
Pez
Peziza coccinea
Peziza domicilina
Pezizaceae
Pezizales
Pezophaps
Pezophaps solitaria
Pezzer catheter
PfKIN protein kinase
Pfaffian
Pfaffians
Pfalz
Pfannenstiel's incision
Pfaundler-Hurler syndrome (current term)
Pfeiffer's bacillus
Pfeiffer's blood agar
Pfeiffer's phenomenon
Pfeiffer's syndrome
Pfeiffer syndrome
Pfeifferella
Pfizer riser
Pfluger's law
Pfr
Pfu DNA polymerase
Pfuhl's sign
Pg.
PgDn
PgUp

Other Resources Relating to: Pfaundler-Hurler syndrome

Search for Pfaundler-Hurler syndrome on Dictionary.com!Search for Pfaundler-Hurler syndrome on Thesaurus.com!Search for Pfaundler-Hurler syndrome on Google!Search for Pfaundler-Hurler syndrome on Wikipedia!

Search