Coffinsiris syndrome genetic and rare diseases information. The exact prevalence is not known but is estimated to be 150,000 to 1100,000. Facial features include prominent forehead, widespread eyes, downslanting eyeslits, prominent ears, thick lips and irregularmissing t. Coffin lowry syndrome is inherited in an xlinked dominant pattern. Graham baxter and genieve turcotte in montreal, friday, january 2, 2015. The hands are short, soft, and fleshy, often with remarkably. Information and translations of coffinlowry syndrome in the most comprehensive dictionary definitions resource on the web. Jan 05, 2016 coffin siris syndrome is an autosomal dominant condition. Most affected individuals have mild to severe intellectual disability. Coffin lowry syndrome is a rare genetic disorder characterized by craniofacial head and facial and skeletal abnormalities, delayed intellectual development, short stature, and hypotonia. Symptoms are usually a lot worst in males, but females can also be affected just as much.
The signs and symptoms and severity vary from person to person. We used magnetic resonance imaging mri to examine the brain of a typical coffin lowry syndrome cls patient. Get a printable copy pdf file of the complete article 761k, or click on a. Coffinlowry syndrome is a severe intellectual disability associated with abnormalities of. Treatment of drop attacks in coffinlowry syndrome with. Coffin siris syndrome is a condition that affects several body systems. Male patients are generally moderately to severely affected while female carriers have mild features coffin lowry syndrome in female carriers, see this term. Mental retardation with absent fifth fingernail and terminal phalanx. The coffin lowry syndrome is a rare diagnosis in our country. 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. Mutation analysis of the rsk2 gene in coffin lowry patients.
The facial appearance is characteristic in the affected, older male child or adult. Coffin lowrys syndrome is a hereditary disease, recessive related to the x chromosome, still it. Coffin lowry syndrome foundation the genetics home reference coffin lowry syndrome. 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. Coffinlowry syndrome definition of coffinlowry syndrome. Symptoms include abnormal facial structure, skeletal structure, muscle structure, intellectual disability, and delayed development. In some cases, no genetic mutation can be identified and the cause of coffin siris syndrome in the family remains unknown. The short stature is a noteworthy problem we discuss here to improve the patients. New radiological finding by magnetic resonance imaging.
Some individuals learn to read and write, although many just learn a few simple words. Males with coffin lowry syndrome typically have severe to profound intellectual disability and delayed. The newsletter is available in hardcopy free of charge to members. Mutation analysis of the rsk2 gene in coffinlowry patients. Xlinked recessive inheritance, caused by mutation in the ribosomal s6 kinase gene rsk on chromosome xp. The case here reported manifests its signature characteristic of short stature, facial dysmorphism, development retardation, hearing defect. Mutationsinthekinase rsk2 associated with coffinlowry syndrome. It was first reported independently by coffin et al. May 1975 724 the journal of p e d i a t r i c s the coffin lowry syndrome. Coffinlowry syndrome genetic and rare diseases information. Progressive kyphoscoliosis affects 1 in 2 patients. 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. Coffin lowry syndrome information page national institute.
Coffin lowry syndrome this syndrome includes mental retardation, faciodigital anomalies, skeletal abnormalities and orodental abnormalities. Coffin lowry syndrome nord national organization for. 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. Characteristic facial features may include an underdeveloped upper jaw bone maxillary hypoplasia, a broad nose, protruding nostrils nares, an abnormally.
The mutation of rps6ka3 we detected by ngs analysis is c. It usually occurs for the first time in a family due to a new mutation. Una nuova sindrome di ritardo mentale, ipoaplasia delle unghie e delle falangi terminali del v dito delle mani e dei piedi. About 7080% of those affected have no family history of the condition. Coffin, postmortem findings in the coffin lowry syndrome genet med 5. The coffin lowry syndrome cls is a congenital disorder that can be recognized by retarded growth and development, the characteristic appearance of the. Coffinlowry syndrome is a condition that affects many parts of the body. Xlinked coffinlowry syndrome cls, mim 303600, rps6ka3 gene. Males with coffinlowry syndrome typically have severe to profound intellectual disability and delayed. Coffinlowry syndrome article about coffinlowry syndrome. Coffinlowry syndrome cls is a rare xlinked genetic syndrome affecting multiple body parts.
Postmortem findings in the coffinlowry syndrome genetics. The typical facial features consist of a prominent forehead, hypertelorism, a flat nasal bridge, downward sloping palpebral fissures, and a wide mouth with full lips. The coffinlowry syndrome is an xlinked genetic disease, characterized by multiple skeletal. Coffin lowry syndrome is a condition that affects many parts of the body. Coffin lowry syndrome is a condition that affects both a persons physicality and mentality. There were many small perivascular focal areas of hypointensity in the white matter. 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. Jul 23, 2010 coffin lowry syndrome is a genetic condition that affects many parts of the body. Coffinlowry syndrome hanauer major reference works. Coffin lowry syndrome is a welldefined clinical entity classically associated with moderate to severe mental retardation, characteristic facial features, skeletal deformities, and tapering fingers.
Epidemiology the condition tends to affect males much more due to its xlinked inheritance. The online discussion forum is restricted to families, caregivers, teachers and medical professionals who have direct connections with individuals who have coffin lowry syndrome. Coffin lowry syndrome nord national organization for rare. 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. Definition of coffinlowry syndrome in the dictionary. This condition is characterized by intellectual disability, short stature, musculoskeletal. Mar 14, 2011 young children with the disorder sometimes have coordination and balance issues. Su asociacion con canal cervical estrecho congenito y mielomalacia. Coffinlowry syndrome is a severe intellectual disability associated with. Esta condicao e caracterizada por deficiencia intelectual, baixa estatura, anormalidades musculoesqueleticas e inicio subito. An xlinked form of mental retardation in which the affected males have short stature and characteristic face, finger and skeletal abnormalities. Coffinlowry syndrome is a genetic condition that affects many parts of the body.
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