E76.219

Applicable To

• Morquio syndrome

• Mucopolysaccharidosis, type IV

Approximate Synonyms

• Morquio syndrome

• Mucopolysaccharidosis mps-iv-a

• Mucopolysaccharidosis mps-iv-b

Clinical Information

• A rare autosomal recessive lysosomal storage disease characterized by abnormal skeletal developments, dwarfism, heart disorders, and central nervous system deficits.

• An inborn error of metabolism characterized by faulty degradation of keratan sulfate with lysosomal accumulation and mucopolysaccharidosis, keratansulfaturia. Clinical features include short trunk dwarfism, dysostosis multiplex, progressive spinal deformity, short neck, pectus carinatum, genu valgum, pes planus, and odontoid hypoplasia with varying degrees of severity. Mental development is usually normal but progressive intellectual deterioration was reported in type b. Two types are recognized according to the enzymes involved: type a: synonyms: morquio syndrome a galactosamine-4-sulfatase galns) deficiency mucopolysaccharidosis mps) iv a this type is caused by galactosamine-6-sulfate sulfatase ec 3.16.4) and is more severe than type b. It is marked by shortness and hyperextension of the neck causing the head to appear as if it were resting directly on the shoulders, short trunk, long extremities with excessive joint mobility, kyphosis or kyphoscoliosis, pectus carinatum, the sternum extending from clavicular junction and angling downward in midsection, spinal cord compression associated with atlantoaxial dislocation and thoracolumbar gibbus, protruding abdomen, and clouding of the cornea type b: synonyms: morquio syndrome b morquio-like syndrome beta-galactosidase deficiency mucopolysaccharidosis mps) iv b this type is caused by beta-galactosidase ec 3.2.1.23) deficiency and is marked a milder phenotype consisting of dysostosis multiplex, pectus carinatum, odontoid hypoplasia, kyphosis, genua valga, platyspondyly, and corneal clouding.

• Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate.

• Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme.

Details

• E76.219 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

• The 2023 edition of ICD-10-CM E76.219 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E76.219 – other international versions of ICD-10 E76.219 may differ.