Gamuts

Mucolipidosis

Mucolipidosis is a group of inherited metabolic disorders that affect the body's ability to carry out the normal turnover of various materials within cells.When originally named, the mucolipidoses derived their name from the similarity in presentation to both mucopolysaccharidoses and sphingolipidoses. A biochemical understanding of these conditions has changed how they are classified. [Source: Wikipedia ]

Subtypes
Mucolipidosis type 1
Mucolipidosis type 2
Mucolipidosis type 3
May Cause
Abnormal scapula
Anterior beaked vertebrae in a child
Anterior beaked vertebral body
Bowed bones
Bowed tubular bones
Broad tubular bones
Congenital generalized osteoporosis
Congenital macrocephaly
Congenital splenomegaly
Congenitally limited joint mobility
Contracted hand
Distal clavicle defect
Enlargement or erosion of sella turcica
Handlebar clavicle
Hepatosplenomegaly in a neonate
Irregular epiphysis
J-shaped sella turcica
Large sella turcica
Limited joint mobility
Lytic skeletal lesion
Macrocephaly
Metaphyseal cupping
Polyostotic bone lesions in adults
Polyostotic bone lesions in an infant or young child
Polyostotic bone lesions in children
Proximal tapering of short tubular bones of the hands and feet
Sclerotic epiphysis
Shallow glenoid fossa
Short foot
Short hand
Short metacarpal
Small epiphysis
Splenomegaly
Subperiosteal bone resorption
Thick clavicle
Thick tubular hand bones
Wide diametaphysis

Copyright © 2022, Charles E. Kahn, Jr., MD, MS
ALL RIGHTS RESERVED
About "Gamuts"

Quiz