Coffin-lowry syndromeQ89.8
HistoryThis section has been translated automatically.
Coffin, 1966; Lowry, 1971
DefinitionThis section has been translated automatically.
Distinct dysmorphia syndrome with progressive swelling of connective tissue and severe developmental delay.
Occurrence/EpidemiologyThis section has been translated automatically.
Panethnic with family history.
EtiopathogenesisThis section has been translated automatically.
X-linked dominant inheritance. Mutations of the RSK2 gene (gene locus Xp22.2) cause an enzyme defect of a serine-threonine protease, which is part of the RAS signalling cascade.
Clinical featuresThis section has been translated automatically.
Among other things, psychomotor and somatic retardation, facial dysmorphia with clumsy facial features (increase in connective tissue), scoliosis, four-finger furrows, livedo reticularis, varicosis.
LiteratureThis section has been translated automatically.
- Coffin GS, Siris E, Wegienka LC (1966) Mental retardation with osteocartilaginous anomalies. On J Dis Child 112: 205-213
- Hanauer A, Young ID (2002) Coffin-Lowry syndrome: clinical and molecular features. J Med Genet 39: 705-713
- Horn D, Delaunoy JP, Kunze J (2001) Prenatal diagnosis in Coffin-Lowry syndrome demonstrates germinal mosaicism confirmed by mutation analysis. Prenatal diagnosis 21: 881-884
- Hunter AG (2002) Coffin-Lowry syndrome: a 20-year follow-up and review of long-term outcomes. At J Med Genet 111: 345-355
- Lowry B, Miller JR, Fraser FC (1971) A new dominant gene mental retardation syndrome; associated with small stature, tapering fingers, characteristic facies, and possible hydrocephalus. On J Dis Child 121: 496-500
- Nelson GB, Hahn JS (2003) Stimulus-induced drop episodes in coffin-lowry syndrome. Pediatrics 111: E197-202