MUCOPOLYSACCHARIDOSIS TYPE II

Subtype of MUCOPOLYSACCHARIDOSIS

Mucopolysaccharidosis (MPS) are a group of diseases classified as inborn error of metabolism caused by deficiency of lysosomal enzymes needed in the degradation of glycosaminoglycans (GAGs). They are also knownas Lysosomal Storage Disease. The MPS’S diseases are hereditary, and depending on the sub-type, it can vary their inheritance pattern, symptoms and severity.

References

Skeletal
Broadening of bones
Kyphosis gibbus
Myelopathy
Narrow cervical spinal canal
Osteoarthritis of head of femur
Rigid joint contracture
Performance
Hoarse voice
Mental retardation
Craniofacial
Coarse face
Hydrocephalus
Hypertrichosis
Macrocephaly
Cardiovascular
Cardiac failure
Coronary occlusion
Hands
Claw-hand deformities
Hearing
Deafness
Neurologic Abnormality
Aggressiveness
Hyperactivity
Neurogenic bladder
Seizures
Spasticity
Respiratory
Airway obstruction
Mucoid nasal discharge
Gastrointestinal
Diarrhea
Hepatosplenomegaly
Genitourinary
Inguinal hernia
Ocular
Disk edema
Ptosis
Retinal pigmentation
Oral
Dentigerous cysts
Full lips
Macroglossia
Retarded dental eruption
Skin
Dermal melanocytosis
Nodular skin lesions over scapular area and on arms
Feet
Pes cavus