Morquio syndrome
| Morquio syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| ICD-10 | E76.2 |
| ICD-9-CM | 277.5 |
| OMIM | 253000 253010 |
| DiseasesDB | 30807 30806 |
| MedlinePlus | 001206 |
| eMedicine | ped/1477 |
| Patient UK | Morquio syndrome |
| MeSH | D009085 |
Morquio syndrome (referred to as mucopolysaccharidosis IV, MPS IV, Morquio-Brailsford syndrome, or Morquio)[1] is an autosomal recessive mucopolysaccharide storage disease (see also lysosomal storage disorder), usually inherited.[2]:544 It is a rare type of birth defect with serious consequences. In the US, the incidence rate for Morquio is estimated at between 1 in 200,000 and 1 in 300,000 live births.[1]
When the body cannot process certain types of mucopolysaccharides, they build up or are eliminated, causing various symptoms. These involve accumulation of keratan sulfate.[3]
History
The condition was first described, simultaneously and independently, in 1929, by Luis Morquio (1867–1935),[4] a prominent Uruguayan physician who discovered it in Montevideo, and James Frederick Brailsford (1888–1961), an English radiographer in Birmingham, England.[5][6] They both recognized the occurrence of corneal clouding, aortic valve disease, and urinary excretion of keratan sulfate. Morquio observed the disorder in four siblings in a family of Swedish extraction and reported his observations in French.
Signs
The following signs are associated with Morquio's syndrome:
- Abnormal heart development
- Abnormal skeletal development
- Hypermobile joints
- Large fingers
- Knock-knees
- Widely spaced teeth
- Bell-shaped chest (flared ribs)
- Compression of spinal cord
- Enlarged heart
- Dwarfism
- Heart murmur
- below average height for certain age
Symptoms
Patients with Morquio syndrome appear healthy at birth.[1] They often present with spinal deformity, and there is growth retardation and possibly genu valgum in the second or third year of life. A patient with Morquio's syndrome is likely to die at an early age. Symptoms of the disease may include:
- Short stature and short neck (caused by flat vertebrae)
- Moderate kyphosis or scoliosis
- Mild pectus carinatum ("pigeon chest")
- Cervical spine: odontoid hypoplasia, atlanto-axial instability; may be associated with myelopathy with gradual loss of walking ability
- Joint laxity, mild dysostosis multiplex, dysplastic hips, large unstable knees, large elbows and wrists, and flat feet
- The combined abnormalities usually result in a duck-waddling gait
- Mid-face hypoplasia and mandibular protrusion
- Thin tooth enamel
- Corneal clouding
- Mild hepatosplenomegaly
Regarding the life span of people with Morquio, some can die as early as 2 or 3 years old, and some can live up to 60 or 70 years old.
Treatment
The treatment for Morquio syndrome consists of prenatal identification and of enzyme replacement therapy. On 12 February 2014, the US Food and Drug Administration approved the drug elosulfase alfa (Vimizim) treating the disease.[7]
See also
References
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- ↑ synd/2108 at Who Named It?
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