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2008 ICD-9-CM Volume 1 Diagnosis Codes Home > Endocrine, Nutritional And Metabolic Diseases, And Immunity Disorders 240-279 > Other Metabolic Disorders And Immunity Disorders 270-279 > Other And Unspecified Disorders Of Metabolism 277.* > 2008 ICD-9-CM Diagnosis 277.5 Mucopolysaccharidosis  On October 1, 2008 the 2009 ICD-9-CM codes came into effect. Therefore, this code may be out of date. The 2009 version of ICD-9-CM 277.5 can be accessed here. A syndrome with variable manifestations exhibiting mainly microcephaly, characteristic facies, mental retardation, short stature, acral skeletal anomalies with occasional craniosynostosis and congenital heart defects. An inborn error of metabolism characterized by arylsulfatase B (EC 3.1.6.12) deficiency preventing degradation of mucopolysaccharides with their accumulation in soft tissues causing obstructions and compression of the blood vessels, trachea, and peripheral nerves, and disruption of normal bone development, associated with the phenotype similar to that in MPS I but generally normal intelligence and mental retardation reported in a few isolated cases. Three basic types are recognized: Maroteaux-Lamy syndrome type B Synonym: mucopolysaccharidosis (MPS) VI B A mild type marked by usually normal childhood until about 6 years of age when short stature, Legg-Perthes-like changes of the hips, aortic stenosis, spinal deformities, corneal clouding, survival into adulthood. The intermediate type has the phenotype similar to that in mucolipidosis III with coarse Hurler-like facies, stiff joints with decreased mobility, and short stature. The severe type (sometimes designated Maroteaux-Lamy syndrome type A Synonym: mucopolysaccharidosis (MPS) VI A A severe typs usually associated with onset of symptoms in early childhood, a rapidly progressive course, and death in adolescence. Short stature, coarse facies, hyperextended head, corneal clouding, defective hearing, heart abnormalities, and musculoskeletal anomalies are the main characteristics. 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. An inborn error of metabolism with a deficiency of enzymes involved in heparan sulfate (HS) degradation. The affected infants appear normal at birth with slowing of development taking place at about one to two years, occasionally not becoming apparent until early school age. Behavioral disorders, mental deterioration, and a loss of motor skills are the principal features. Hirsutism, macrocephaly, and limited joint movements. Four types, each with a different enzyme deficiency, are recognized: A, B, C and D. The phenotype is similar in all four types and consists mainly of some facial coarsening with dull appearance, slightly sunken nasal bridge, and abundant scalp hair. Early development is usually normal, followed between the ages of 2 to 6 years by mainly behavioral disorders with progressive loss of mental and motor skills with spastic diplegia, the patient eventually becoming bedridden. Death usually takes place from 10 to 20 years of age. Type A has the most severe course with the earliest onset and mortality. Type A Synonyms: Sanfilippo syndrome A heparan sulfate sulfatase deficiency mucopolysaccharidosis IIIA (MPS IIIA) Caused by heparan sulfatase (EC 3.10.1.1) deficiency. Type B Synonyms: Sanfilippo syndrome B mucopolysaccharidosis IIIB (MPS IIIB) N-acetyl-alpha-D-glucosaminidase (NAG) deficiency N-acetyl-alpha-D-glucosaminidase (NAG) polymorphism] is caused by Caused by N-acetyl-alpha-D-glucosaminidase (EC 3.2.1.50) deficiency. Type C Synonyms: Sanfilippo syndrome C acetyl-CoA:alpha-glucosamide N-acetyltransferase deficiency mucopolysaccharidosis IIIC (MPS IIIC) Caused by acetyl-CoA:alpha-glucosamide N-acetyltransferase (EC 2.3.13) deficiency. Type D Synonyms: Sanfilippo syndrome D mucopolysaccharidosis IIID (MPS IIID) N-acetylglucosamine-6-sulfate sulfatase deficiency) C Caused by N-acetylglucosamine-6-sulfate sulfatase (3.1.6.14) deficiency. An inborn mucopolysaccharide metabolism disorder with iduronate-2-sulfatase deficiency. Clinical characteristics are similar to those in MPS I, except for the absence of corneal clouding and slower progression of the course of disease and central nervous system deterioration. Retinal degeneration may occur, but the cornea usually remains clear. Appearance is normal at birth with excessive growth taking place during first two years of life. Two types are recognized: A severe form (MPS IIA) which is characterized mainly by mental retardation and progressive physical deterioration and early death, and a mild form (MPS IIB) in which patients may survive into adulthood. MPS IIA usually occurs between 2 and 4 years of age with progressive deterioration, chronic diarrhea, recurrent ear infections, hearing impairment, communicating hydrocephalus with increased intracranial pressure, and death at about 10 and 15 years. Obstructive airway disease, cardiac valvular dysfunction, myocardial thickening, pulmonary hypertension, coronary disease, and myocardial infarction may be superimposed. MPS IIB is milder with preservation of intelligence. The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema. Death may occur in early adulthood, usually from airway obstruction or cardiac failure. 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. Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency. Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme. Mucopolysaccharidosis with excessive chondroitin sulfate B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-acetylgalactosamine-4-sulfatase (arylsulfatase B). Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15. 277.5 is a specific code that can be used to specify a diagnosis 277.5 contains 36 index entries View the ICD-9-CM Volume 1 277.* hierarchy 277.5 also known as: Gargoylism Hunter's syndrome Hurler's syndrome Lipochondrodystrophy Maroteaux-Lamy syndrome Morquio-Brailsford disease Osteochondrodystrophy Sanfilippo's syndrome Scheie's syndrome Index entries containing 277.5: Brailsford-Morquio disease or syndrome (mucopolysaccharidosis IV) 277.5 Chondrodystrophia (fetalis) 756.4 tarda 277.5 Chondro-osteodysplasia (Morquio-Brailsford type) 277.5 Chondro-osteodystrophy 277.5 Disease, diseased - see also Syndrome Brailsford-Morquio (mucopolysaccharidosis IV) 277.5 Hurler's (mucopolysaccharidosis I) 277.5 Morquio (-Brailsford) (-Ullrich) (mucopolysaccharidosis IV) 277.5 storage mucopolysaccharide 277.5 Disorder - see also Disease metabolism NEC 277.9 mucopolysaccharide 277.5 mucopolysaccharide 277.5 Dwarf, dwarfism 259.4 polydystrophic 277.5 Dysostosis multiplex 277.5 Dystrophy, dystrophia 783.9 familial osseous 277.5 Eccentro-osteochondrodysplasia 277.5 Gargoylism 277.5 Heparitinuria 277.5 Hunter (-Hurler) syndrome (mucopolysaccharidosis II) 277.5 Hurler (-Hunter) disease or syndrome (mucopolysaccharidosis II) 277.5 Lipochondrodystrophy 277.5 Maroteaux-Lamy syndrome (mucopolysaccharidosis VI) 277.5 Morquio (-Brailsford) (-Ullrich) disease or syndrome (mucopolysaccharidosis IV) 277.5 kyphosis 277.5 Mucopolysaccharidosis (types 1-6) 277.5 cardiopathy 277.5 [425.7] Osteochondrodystrophy 277.5 deformans 277.5 familial 277.5 fetalis 756.4 Polydystrophic oligophrenia 277.5 Sanfilippo's syndrome (mucopolysaccharidosis III) 277.5 Scheie's syndrome (mucopolysaccharidosis IS) 277.5 Syndrome - see also Disease Brailsford-Morquio (dystrophy) (mucopolysaccharidosis IV) 277.5 Hunter (-Hurler) (mucopolysaccharidosis II) 277.5 Hurler (-Hunter) (mucopolysaccharidosis II) 277.5 Maroteaux-Lamy (mucopolysaccharidosis VI) 277.5 Morquio (-Brailsford) (-Ullrich) (mucopolysaccharidosis IV) 277.5 Sanfilippo's (mucopolysaccharidosis III) 277.5 Scheie's (mucopolysaccharidosis IS) 277.5