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A syndrome of mental retardation and osteocartilaginous abnormalities with peculiar facies.

Coffin-Siris-Wegienka Syndrome (do not confuse with Coffin-Siris Syndrome, which is a different disease); Soft Hands Syndrome.

First described by Grange S. Coffin, an American pediatrician, Evelyn Siris, an American radiologist, and Laurence C. Wegienka, an American physician, in 1966. However, to avoid (further) confusions with Coffin-Siris Syndrome, it was decided to name the syndrome described here as Coffin Lowry Syndrome (after Robert Bryan Lowry, a British medical geneticist, who described a fourth family with the same findings in 1971).

1:50,000-100,000 live births. No sexual predilection, but the disease is more severe in males.

X-linked semidominant inherited disorder caused by mutations in the gene coding for the RSK2 (ribosomal s6 kinase 2), a growth factor-regulated serine-threonine protein kinase (involved in promotion of mitosis and activation of genes) that has been mapped to Xp22.2-p22.1. However, research shows that only a minority of patients with this disorder actually have a mutation in the RSK2 gene.

Abnormal proteodermatan sulfate, glycolipid-like lysosomal granules, and vacuoles have been found in cultured skin fibroblasts. Accumulation of hyaluronate and hyperprolinemia have been reported in some patients.

Based on the clinical association of growth and psychomotor retardation with hypotonia, progressive skeletal deformations, characteristic facial dysmorphism, and large soft hands.

There is a wide variability in the expression of the features of the syndrome. Involvement of the head and neck can present as thickened calvarium, small sinuses paranasales, flat occiput, delayed suture closure with large anterior fontanelle, prominent supraorbital ridges with bushy brows, downwardly slanted palpebral fissures, hypertelorism, blepharoptosis, large and prominent ears, large nose with broad base and elongated philtrum, mandibular prognathism, maxillary/midfacial hypoplasia, large mouth with big lips, and longitudinally furrowed tongue with a dorsal groove. The facial features are generally not present at birth, but become apparent by the second year of life, after which they become more pronounced. Dental anomalies are numerous and may include congenital absence of some teeth, delayed eruption, enamel hypoplasia, caries, early loss of teeth, abnormal size and shape, malposition, malalignments, and periodontal disease. Involvement of the musculoskeletal system presents as short thorax, bifid sternum, pectus excavatum or carinatum, vertebral dysplasia, kyphosis, scoliosis, delayed bone age, ligamental calcifications, hyperextensible joints, muscle atrophy, large and soft hands with simian crease, and tapering of the fingers. Cardiovascular involvement is frequent, with features including atrial septal defects, persistent ductus arteriosus, valvular anomalies (mitral valve prolapse, mitral regurgitation, tricuspid insufficiency), impaired cardiac function, right ventricular hypertrophy, restrictive cardiomyopathy, endomyocardial fibroelastosis, and ventricular arrhythmias. Central nervous system features consist of generalized hypotonia, which may be the earliest presenting sign and related to paroxysmal drop attacks (cataplexy or hyperexplexia). In addition, seizures, hydrocephalus, agenesis of the corpus callosum, abnormal gyration, faulty cortical lamination, calcification of the falx cerebri, sensorineural hearing loss, mental retardation, a tendency to obsessive-compulsive behavior, and cervical radiculopathy ...

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