This case demonstrates the variability in presentation of CLS, and that skeletal findings may be misleading in infancy. © 2017 Wiley Periodicals, Inc. [ncbi.nlm.nih.gov]

The facial features are generally not present at birth, but become apparent by the second year of life, after which they become more pronounced. [accessanesthesiology.mhmedical.com]

• Short Stature

  Cof·fin-Low·ry syn·drome ( kof'ĭn low'rē ), [MIM*303600] characterized by coarse facial features with bulbous nose, large ears, and thick lips; short stature; tapered fingers; skeletal anomalies and mental retardation. [medical-dictionary.thefreedictionary.com]

  Individuals with Coffin-Lowry syndrome may have physical features such as large hands with short, thin fingers, short stature, small/underdeveloped upper jaw, prominent brow, and downward slanting eyelid folds. [ideas.org.au]

  Coffin-Lowry Syndrome is characterized by mental retardation, skeletal abnormalities, delayed bone development, short stature, tapered fingers, large ears, orbital hypertelorism, anteverted nares, and a prominent frontal region. [ncbi.nlm.nih.gov]

  ACMG practice guideline: genetic evaluation of short stature. [evidence.nhs.uk]

  NINDS : 53 Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities, delayed intellectual development, short stature, and hypotonia. [malacards.org]

• Single Transverse Palmar Crease

  transverse palmar crease 0000954 Sporadic No previous family history 0003745 Telecanthus Corners of eye widely separated 0000506 Thick eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 Thick nasal [rarediseases.info.nih.gov]

• Infertility

  Author information 1 Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics & Gynecology, Georgia Regents University, Augusta, GA 30912, USA; Department of Neuroscience and Regenerative Medicine, Georgia Regents University [ncbi.nlm.nih.gov]

• Failure to Thrive

  Other findings can include failure to thrive, feeding difficulties, short stature, ophthalmologic abnormalities, microcephaly and hearing loss. [dnatesting.uchicago.edu]

  Additionally, some infants and children with Coffin-Siris syndrome have frequent respiratory infections, difficulty feeding, and an inability to gain weight at the expected rate (failure to thrive). [medlineplus.gov]

  Feeding difficulties often lead to failure to thrive in infancy. More than 99% of affected individuals have a contiguous gene deletion of the Williams-Beuren syndrome critical region (WBSCR) that encompasses the elastin gene ( ELN ). [ncbi.nlm.nih.gov]

• Gagging

  Quantitative analysis of GAGs was carried out by measuring optical density at 615 nm of Alcian blue-stained GAG spots on electrophoretograms. [ncbi.nlm.nih.gov]

• Hearing Impairment

  Audiological tests revealed profound hearing impairment. Anomalous labyrinths were shown by CT scan of the temporal bones. It is inferred that deafness is one of the symptoms of this syndrome. [ncbi.nlm.nih.gov]

  Other features may include feeding and respiratory problems, developmental delay, hearing impairment, awkward gait, stimulus-induced drop episodes, and heart and kidney involvement. [ninds.nih.gov]

  Other features may include hearing impairment, awkward gait, and heart and kidney involvement. Onset in postnatal period. It is transmitted with X-linked intermediate inheritance. We thank Pavlo Milan for information submitted. Bibliography G. S. [whonamedit.com]

  impairment, awkward gait, stimulus-induced drop episodes, and heart and kidney involvement. [peninsulamedical.moneomed.com]

• Muscle Hypotonia

  Muscle hypotonia and decreased or abolished muscle stretch reflexes are noted, whereas eye movements and sometimes verbal communication are possible. 8 TABLE 2. [pediatrics.aappublications.org]

• Coxa Valga

  valga 0002673 Cutis laxa Loose and inelastic skin 0000973 Cutis marmorata 0000965 Decreased body weight Decreased weight Low body weight Low weight Weight less than 3rd percentile [ more ] 0004325 Delayed closure of the anterior fontanelle Later than [rarediseases.info.nih.gov]

• Psychiatric Symptoms

  Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriers Gen Counsel 1995 6 : 259–268 7 Trivier E, De Cesare D, Jacquot S et al. [dx.doi.org]

• Hypertelorism

  A 6 year-old, and a 3 year-old boy both had distinct clinical features of Coffin-Lowry syndrome; severe mental and motor retardation, microcephaly, prominent forehead, hypertelorism, large mouth, large ears, large soft hands, puffy tapered fingers, and [ncbi.nlm.nih.gov]

  Facial abnormalities (hypertelorism, frontal bossing, thick lips) become apparent in early childhood. [orpha.net]

  Furthermore, a coarse face with prominent brow, hypertelorism and thick nasal tissues, can be present. Cognitive function in female heterozygotes is normal or mildly impaired. Diagnosis Is based on clinical examination. [dx.doi.org]

• Coarse Face

  Typically, male patients are of short stature and exhibit a characteristic coarse face with a prominent forehead, orbital hypertelorism, downslanting palpebral fissures, thick lips, a thick nasal septum with anteverted nares, and irregular or missing [ncbi.nlm.nih.gov]

  Carrier females have mild intellectual impairment and short stature, coarse face, prominent lips, soft fleshy hands with thick tapering fingers. [ggc.org]

  Furthermore, a coarse face with prominent brow, hypertelorism and thick nasal tissues, can be present. Cognitive function in female heterozygotes is normal or mildly impaired. Diagnosis Is based on clinical examination. [dx.doi.org]

• No Speech Development

  Cognitive deficiencies and impaired speech development are prominent but variable in severity. Other uncommonly associated manifestations include epileptic seizures and sensorineural hearing loss, which can be profound. [orpha.net]

  Severely affected children may have no speech development. Some affected individuals experience episodes of brief collapse without loss of consciousness (drop attacks) that occur following an unexpected noise or emotional event. [rarediseases.org]

• Delayed Bone Age

  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 [accessanesthesiology.mhmedical.com]

  Diagnostic methods Diagnosis is usually based on the clinical presentation and radiological findings (cranial hyperostosis, abnormal shape and end plates of the vertebral bodies, delayed bone age, metacarpal pseudoepiphyses, and tufting of the distal [orpha.net]

  Patients are usually short with delayed bone age; joints are hyperextensible. The cognitive function of affected males is usually severely impaired. Patients are hypotonic and may have “drop attacks”. Sensorineural hearing loss has been described. [genedx.com]

Read More Read Less Treatment Treatment There is no cure and no standard course of treatment for Coffin-Lowry syndrome. Treatment is symptomatic and supportive, and may include physical and speech therapy and educational services. [ninds.nih.gov]

Treatment There is no cure and no standard course of treatment for Coffin-Lowry syndrome. Treatment is symptomatic and supportive, and may include physical and speech therapy and educational services. [brainfacts.org]

There is no specific treatment for Coffin-Lowry syndrome. [ideas.org.au]

TREATMENT There is no cure and no standard course of treatment for CLS. Benzodiazepine medication is sometimes prescribed. Treatment is symptomatic and supportive, and may include physical and speech therapy and educational services. [secure.ssa.gov]

Prognosis Prognosis The prognosis for individuals with Coffin-Lowry syndrome varies depending on the severity of symptoms. Early intervention may improve the outlook for patients. Life span is reduced in some individuals with Coffin-Lowry syndrome. [ninds.nih.gov]

Prognosis The prognosis for individuals with Coffin-Lowry syndrome varies depending on the severity of symptoms. Early intervention may improve the outlook for patients. Life span is reduced in some individuals with Coffin-Lowry syndrome. [brainfacts.org]

Bardet-Biedl Syndrome (BBS): Causes, Symptoms, Diagnosis, Treatment, Prognosis This article does not provide medical advice. See disclaimer [epainassist.com]

Prognosis Prognosis is poor and depends on the severity of the disease. The documents contained in this web site are presented for information purposes only. [orpha.net]

However, the etiology of the very first familial case, which was described in 1971 by Lowry with detailed phenotype and coined the term CLS, has remained unknown. [ncbi.nlm.nih.gov]

Also Read: Piriformis Syndrome Massage Treatment Carpal Tunnel Syndrome Delayed Sleep Phase Syndrome (DSPS or DSPD): Diagnosis, Treatment, Prognosis Irritable Bowel Syndrome (IBS): Classification and Types, Pathophysiology, Etiology, Risk Factors, Symptoms [epainassist.com]

Etiology CLS is caused by mutations in the RPS6KA3 gene (Xp22.2-p22.1), which encodes RSK2, a growth-factor-regulated protein kinase. RPS6KA3 mutations are highly heterogeneous and lead to loss of phosphotransferase activity in the RSK2 kinase. [orpha.net]

Etiology and reduced pre- and perinatal optimality. Acta Paediatr 84:1153-1159 (1995). Stephenson JB, Hoffman MC, Russell AJ, Falconer J, Beach RC, et al: The movement disorders of Coffin-Lowry syndrome. Brain Dev 27:108-113 (2005). [karger.com]

Its etiology is unknown, but it is believed to have an autosomal recessive mode of inheritance. Patients with this syndrome are chromosomally normal. The location of the Coffin-Siris gene has tentatively been identified (3–6). [journals.lww.com]

Gov't Review MeSH terms Abnormalities, Multiple/genetics Bone Diseases, Developmental/diagnosis Bone Diseases, Developmental/epidemiology Bone Diseases, Developmental/genetics Coffin-Lowry Syndrome/diagnosis* Coffin-Lowry Syndrome/epidemiology Coffin-Lowry [ncbi.nlm.nih.gov]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.it]

Summary Epidemiology The exact prevalence is not known but is estimated to be 1/50,000 to 1/100,000. [orpha.net]

Lhatoo SD, Sander JW: The epidemiology of epilepsy and learning disability. Epilepsia 42(suppl 1):6-9, discussion 19-20 (2001). Lowry B, Miller JR, Fraser FC: A new dominant gene mental retardation syndrome. [karger.com]

The pathophysiology of SIDEs is not well understood. Copyright © 2012 Elsevier Masson SAS. All rights reserved. [ncbi.nlm.nih.gov]

Also Read: Piriformis Syndrome Massage Treatment Carpal Tunnel Syndrome Delayed Sleep Phase Syndrome (DSPS or DSPD): Diagnosis, Treatment, Prognosis Irritable Bowel Syndrome (IBS): Classification and Types, Pathophysiology, Etiology, Risk Factors, Symptoms [epainassist.com]

The pathophysiology of SIDEs is not well understood. [pediatrics.aappublications.org]

Their pathophysiology is not clear so far. They have been termed cataplexy, hyperekplexia, nonepileptic collapses with atonia, or exaggerated startle responses [Havaligi et al., 2007]. [karger.com]

Early recognition of Coffin-Lowry syndrome is important for genetic counseling and prevention of severe skeletal malformations. [ncbi.nlm.nih.gov]

Children with Coffin-Lowry syndrome must receive extensive dental check-up and preventive dental care. They should also have access to speech and language therapies. [medindia.net]

The NINDS supports and conducts research on genetic disorders, such as Coffin-Lowry syndrome, in an effort to find ways to prevent, treat, and ultimately cure these disorders. [ninds.nih.gov]