Clinical description obesity and psychiatric disorders and epilepsy have been described. Mental retardation with absent fifth fingernail and terminal phalanx. Coffin lowry syndrome is a welldefined clinical entity classically associated with moderate to severe mental retardation, characteristic facial features, skeletal deformities, and tapering fingers. Coffinlowry syndrome genetic and rare diseases information. Coffin lowry syndrome is a rare genetic disorder characterized by craniofacial head and facial and skeletal abnormalities, delayed intellectual development, short stature, and hypotonia. Facial features include prominent forehead, widespread eyes, downslanting eyeslits, prominent ears, thick lips and irregularmissing t. The coffin lowry syndrome cls is a congenital disorder that can be recognized by retarded growth and development, the characteristic appearance of the. New radiological finding by magnetic resonance imaging. Coffin lowry syndrome is a condition that affects many parts of the body. Most affected individuals have mild to severe intellectual disability. Coffin, postmortem findings in the coffin lowry syndrome genet med 5. Symptoms include abnormal facial structure, skeletal structure, muscle structure, intellectual disability, and delayed development. Mar 14, 2011 young children with the disorder sometimes have coordination and balance issues. Coffin lowry syndrome was first identified as a distinct syndrome in 1966, when coffin and colleagues noted two unrelated male patients with an xlinked disease marked by severe mental retardation mr, short stature, skeletal deformities, and large, soft hands with tapering fingers.
Coffinlowry syndrome definition of coffinlowry syndrome. Jan 05, 2016 coffin siris syndrome is an autosomal dominant condition. Coffinlowry syndrome article about coffinlowry syndrome. The coffin lowry syndrome cls is a congenital disorder that can be recognized by retarded growth and development, the characteristic appearance of the face and hands, and often by the typical. Coffin lowry syndrome is a condition that affects both a persons physicality and mentality. The coffin lowry syndrome is a rare diagnosis in our country. Coffin siris syndrome is a condition that affects several body systems. Coffinlowry syndrome is a severe intellectual disability associated with. Characteristic facial features may include an underdeveloped upper jaw bone maxillary hypoplasia, a broad nose, protruding nostrils nares, an abnormally. Coffinlowry syndrome is a genetic condition that affects many parts of the body. Xlinked recessive inheritance, caused by mutation in the ribosomal s6 kinase gene rsk on chromosome xp. The hands are short, soft, and fleshy, often with remarkably. Xlinked coffinlowry syndrome cls, mim 303600, rps6ka3 gene.
The mutation of rps6ka3 we detected by ngs analysis is c. The exact prevalence is not known but is estimated to be 150,000 to 1100,000. The coffin lowry syndrome cls is a rare x linked disorder in which affected males show severe mental retardation with characteristic dysmorphism, most notably affecting the face and hands. Jul 16, 2002 coffin lowry syndrome cls is usually characterized by severetoprofound intellectual disability in males. Epidemiology the condition tends to affect males much more due to its xlinked inheritance. An xlinked form of mental retardation in which the affected males have short stature and characteristic face, finger and skeletal abnormalities. There were many small perivascular focal areas of hypointensity in the white matter.
Mar 27, 2019 coffin lowry syndrome is a rare genetic disorder characterized by craniofacial head and facial and skeletal abnormalities, delayed intellectual development, short stature, and hypotonia. Get a printable copy pdf file of the complete article 761k, or click on a. Coffin lowry syndrome nord national organization for rare. Coffin lowry syndrome foundation the genetics home reference coffin lowry syndrome. Coffinsiris syndrome genetic and rare diseases information. Coffinlowry syndrome cls is a rare xlinked genetic syndrome affecting multiple body parts. Postmortem findings in the coffinlowry syndrome genetics. Mutation analysis of the rsk2 gene in coffin lowry patients.
Su asociacion con canal cervical estrecho congenito y mielomalacia. May 1975 724 the journal of p e d i a t r i c s the coffin lowry syndrome. Some individuals learn to read and write, although many just learn a few simple words. Males with coffinlowry syndrome typically have severe to profound intellectual disability and delayed. A characteristic paroxysmal disorder was described in up to 10% patients with coffin lowry syndrome, characterized by sudden loss of muscle tone induced by unexpected tactile or auditory stimuli. Symptoms are usually a lot worst in males, but females can also be affected just as much. Treatment of drop attacks in coffinlowry syndrome with. Aug 21, 2019 coffinlowry syndrome as stated is a genetic medical condition, which is xlinked dominant and causes severe mental retardation along with severe growth abnormalities, cardiac issues, kyphoscoliosis, as well as hearing and visual disorders. In utero growth is normal but post natal growth is retarded.
Coffinlowry syndrome is a condition that affects many parts of the body. Progressive kyphoscoliosis affects 1 in 2 patients. Coffin lowry syndrome this syndrome includes mental retardation, faciodigital anomalies, skeletal abnormalities and orodental abnormalities. The newsletter is available in hardcopy free of charge to members. The coffinlowry syndrome is an xlinked genetic disease, characterized by multiple skeletal. Coffin lowry syndrome nord national organization for. Intellect ranges from normal to profoundly impaired in heterozygous females. Coffin lowry syndrome information page national institute.
It was first reported independently by coffin et al. Coffinlowry syndrome hanauer major reference works. About 7080% of those affected have no family history of the condition. Jul 23, 2010 coffin lowry syndrome is a genetic condition that affects many parts of the body. The signs and symptoms and severity vary from person to person.
Males with coffin lowry syndrome typically have severe to profound intellectual disability and delayed. The signs and symptoms are usually more severe in males than in females, although the features of this disorder range from very mild to severe in affected women. Coffinlowry syndrome is a genetic disorder that is xlinked dominant and which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis, as well as auditory and visual abnormalities. The short stature is a noteworthy problem we discuss here to improve the patients.
We used magnetic resonance imaging mri to examine the brain of a typical coffin lowry syndrome cls patient. Una nuova sindrome di ritardo mentale, ipoaplasia delle unghie e delle falangi terminali del v dito delle mani e dei piedi. Definition of coffinlowry syndrome in the dictionary. Coffin lowrys syndrome is a hereditary disease, recessive related to the x chromosome, still it. The facial appearance is characteristic in the affected, older male child or adult. Information and translations of coffinlowry syndrome in the most comprehensive dictionary definitions resource on the web. Esta condicao e caracterizada por deficiencia intelectual, baixa estatura, anormalidades musculoesqueleticas e inicio subito. In some cases, no genetic mutation can be identified and the cause of coffin siris syndrome in the family remains unknown. Males with a rps6ka3 gene mutation will be affected with coffin lowry syndrome and females with a rps6ka32 gene mutation have a high risk for developmental delay and mild physical symptoms of the disease. Coffin lowry syndrome is inherited in an xlinked dominant pattern. Mutation of rps6ka3 can induce coffinlowry syndrome, an xlinked syndrome. Coffinlowry syndrome is a severe intellectual disability associated with abnormalities of. It usually occurs for the first time in a family due to a new mutation. The online discussion forum is restricted to families, caregivers, teachers and medical professionals who have direct connections with individuals who have coffin lowry syndrome.
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