Mucopolysaccharidosis

Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within the cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. [Source: Wikipedia ]

Synonyms
MPS
Subtypes
Hunter syndrome
Morquio syndrome
Mucopolysaccharidosis type 1
Mucopolysaccharidosis type 1 H-S
Mucopolysaccharidosis type 4A
Mucopolysaccharidosis type 6
Mucopolysaccharidosis type 7
Sanfilippo syndrome
May Cause
Abnormal odontoid process
Abnormal scapula
Absent vertebral pedicle
Acyanotic congenital heart disease with normal pulmonary vascularity
Anterior beaked vertebrae in a child
Anterior beaked vertebral body
Aortic insufficiency
Aortic valve disease
Atlantoaxial instability
Basilar invagination
Bilateral large kidneys
Bowed bones
Bowed tubular bones
Brachydactyly
Broad tubular bones
Cardiac calcification
Cardiac valve thickening
Cardiomyopathy
Clavicular lesion in an infant or child
Clubfoot
Congenital atlantoaxial subluxation or instability
Congenital foot deformity
Congenital generalized osteoporosis
Congenital hepatomegaly
Congenital joint subluxation
Congenital macrocephaly
Congenital premature craniosynostosis
Congenital short hands and feet
Congenital short limbs
Congenital splenomegaly
Congenital vertebral abnormality
Congenitally abnormal pelvis
Congenitally abnormal scapula
Congenitally limited joint mobility
Contracted hand
Coronary artery aneurysm
Coxa valga
Cuboid vertebrae
Decreased carpal angle
Decreased subcutaneous fat
Defective cranial ossification
Defective dentition
Degenerative and metabolic disorders
Delayed bone age
Delayed dentition
Delayed tooth eruption
Dense or thick skull
Dental defect
Diffusely dense skull base
Distal clavicle defect
Enlarged distal femoral intercondylar notch
Enlargement or erosion of sella turcica
Flat femoral head
Fragmented femoral head
Fragmented or irregular femoral head
Frontal bossing
Generalized small epiphyses
Genu valgum
Glaucoma
Handlebar clavicle
Heart failure
Hepatosplenomegaly in a neonate
Hirsutism
Hypoplastic vertebral pedicle
Inner ear anomaly
Irregular epiphyseal ossification centers
Irregular epiphysis
J-shaped sella turcica
Joint subluxation
Kyphoscoliosis
Large sella turcica
Leukodystrophy / leukoencephalopathy
Limited joint mobility
Macrocephaly
Macroglossia
Metaphyseal cupping
Metatarsus adductus
Middle ear anomaly
Multiple abnormal epiphyses
Multiple expanding rib lesions
Multiple well-defined radiolucent jaw lesions
Narrow pelvis in an infant or child
Narrow spinal canal
Odontoid aplasia
Odontoid hypoplasia
Optic canal enlargement
Pectus carinatum
Periventricular T2 hyperintense lesion
Pes planus
Polyostotic bone lesions in adults
Polyostotic bone lesions in an infant or young child
Polyostotic bone lesions in children
Protrusio acetabuli
Proximal tapering of short tubular bones of the hands and feet
Pulmonary artery aneurysm
Pulmonary hypertension
Retarded skeletal maturation
Rib lesion in a child
Sclerotic epiphysis
Shallow glenoid fossa
Short foot
Short hand
Short metacarpal
Short metatarsal
Short ribs
Short squat bones
Small epiphysis
Splenomegaly
Spool-shaped vertebrae
Thick clavicle
Thick ribs
Thoracolumbar gibbus
Underdeveloped mastoid
Underdevelopment of mastoids
Wedged vertebra
Wide diametaphysis
Wide metaphysis
Wide spinal canal
Abnormal odontoid process
Abnormal scapula
Absent vertebral pedicle
Acyanotic congenital heart disease with normal pulmonary vascularity
Anterior beaked vertebrae in a child
Anterior beaked vertebral body
Aortic insufficiency
Aortic valve disease
Atlantoaxial instability
Basilar invagination
Bilateral large kidneys
Bowed bones
Bowed tubular bones
Brachydactyly
Broad tubular bones
Cardiac calcification
Cardiac valve thickening
Cardiomyopathy
Clavicular lesion in an infant or child
Clubfoot
Congenital atlantoaxial subluxation or instability
Congenital foot deformity
Congenital generalized osteoporosis
Congenital hepatomegaly
Congenital joint subluxation
Congenital macrocephaly
Congenital premature craniosynostosis
Congenital short hands and feet
Congenital short limbs
Congenital splenomegaly
Congenital vertebral abnormality
Congenitally abnormal pelvis
Congenitally abnormal scapula
Congenitally limited joint mobility
Contracted hand
Coronary artery aneurysm
Coxa valga
Cuboid vertebrae
Decreased carpal angle
Decreased subcutaneous fat
Defective cranial ossification
Defective dentition
Degenerative and metabolic disorders
Delayed bone age
Delayed dentition
Delayed tooth eruption
Dense or thick skull
Dental defect
Diffusely dense skull base
Distal clavicle defect
Enlarged distal femoral intercondylar notch
Enlargement or erosion of sella turcica
Flat femoral head
Fragmented femoral head
Fragmented or irregular femoral head
Frontal bossing
Generalized small epiphyses
Genu valgum
Glaucoma
Handlebar clavicle
Heart failure
Hepatosplenomegaly in a neonate
Hirsutism
Hypoplastic vertebral pedicle
Inner ear anomaly
Irregular epiphyseal ossification centers
Irregular epiphysis
J-shaped sella turcica
Joint subluxation
Kyphoscoliosis
Large sella turcica
Leukodystrophy / leukoencephalopathy
Limited joint mobility
Macrocephaly
Macroglossia
Metaphyseal cupping
Metatarsus adductus
Middle ear anomaly
Multiple abnormal epiphyses
Multiple expanding rib lesions
Multiple well-defined radiolucent jaw lesions
Narrow pelvis in an infant or child
Narrow spinal canal
Odontoid aplasia
Odontoid hypoplasia
Optic canal enlargement
Pectus carinatum
Periventricular T2 hyperintense lesion
Pes planus
Polyostotic bone lesions in adults
Polyostotic bone lesions in an infant or young child
Polyostotic bone lesions in children
Protrusio acetabuli
Proximal tapering of short tubular bones of the hands and feet
Pulmonary artery aneurysm
Pulmonary hypertension
Retarded skeletal maturation
Rib lesion in a child
Sclerotic epiphysis
Shallow glenoid fossa
Short foot
Short hand
Short metacarpal
Short metatarsal
Short ribs
Short squat bones
Small epiphysis
Splenomegaly
Spool-shaped vertebrae
Thick clavicle
Thick ribs
Thoracolumbar gibbus
Underdeveloped mastoid
Underdevelopment of mastoids
Wedged vertebra
Wide diametaphysis
Wide metaphysis
Wide spinal canal