Coffin-Lowry syndrome is a rare X-linked disorder characterized by craniofacial and skeletal abnormalities, mental retardation, short stature, and hypotonia. [ncbi.nlm.nih.gov]

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]

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]

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]

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

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]

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]

Prenatal ultrasound has afforded insights into many structural and syndromic fetal disorders. In this report, the ultrasound findings were of assistance when counselling a patient who presented with a history of Coffin-Lowry syndrome (CLS). [ncbi.nlm.nih.gov]

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 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. [inman.moneomed.com]

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

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]

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]

symptoms in a family harbouring a Xp22.12 microduplication encompassing the RPS6KA3 gene Vera Uliana, Francesco Bonatti, Valentina Zanatta, Paola Mozzoni, Davide Martorana & Antonio Percesepe Journal of Genetics (2019) The role of genetics in the establishment [dx.doi.org]

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]

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]

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]

We report on 4 brothers with CLS, aged 9-17 years, of whom 3 suffered from a severe sensorineural hearing loss with an onset during late childhood and adolescence after a normal hearing during early childhood. [ncbi.nlm.nih.gov]

A distinctive paroxysmal disorder has been described in some CLS patients, characterized by episodes of sudden falling, without apparent alteration of consciousness, usually induced by unexpected tactile or auditory stimuli. [ncbi.nlm.nih.gov]

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]

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]

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]