At 4 years heart evaluation was requested because of insufficient weight gain; it showed a large atrial septal defect, which was repaired. Bilateral inguinal hernia was corrected one year later. [vdocuments.mx]

The most consistent findings of the syndrome are: facial asymmetry, ocular hypertelorism, long philtrum, small mouth, highly arched palate, spindle-shaped fingers, camptodactyly, and abnormal dermatoglyphics. [vdocuments.mx]

Congenital contractural arachnodactyly shares skeletal features with Marfan syndrome (MFS) such as marfanoid habitus, arachnodactyly, camptodactyly and kyphoscoliosis. [caribbean.scielo.org]

None of them had abnormalities of the heart (5).Our patient had mitral valve prolapse and mitral regurgitation. [caribbean.scielo.org]

The presence of mitral valve prolapse has been reported but is not considered a constant feature of this disorder. One must consider the possibility of cervical spina bifida (avoid hyperextension of the neck) and the underlying myopathy. [accessanesthesiology.mhmedical.com]

The manifestations of THCS other than camptodactyly are clubbed feet, thenar and hypothenar hypoplasia, abnormal palmar creases and dermatoglyphic ridges, spina bifida and mitral valve prolapse. [pesquisa.bvsalud.org]

Tel Hashomer camptodactyly syndrome THCS Tel Hashomer camptodactyly syndrome (THCS) is a rare disorder comprising camptodactyly, hypotonia and muscle hypoplasia, skeletal dysplasia, inguinal hernia and mitral valve prolapse and abnormal dermatoglyphics [fitness-vip.com]

teeth positioning * Absent finger creases Causes - Tel Hashomer camptodactyly syndrome Not supplied. [checkorphan.org]

Laxa-Marfanoid Syndrome Cyprus Facial Neuromusculoskeletal Syndrome Daentl Towsend Siegel Syndrome Dahlberg Borer Newcomer Syndrome Daish Hardman Lamont Syndrome Dandy-Walker syndrome Daneman Davy Mancer Syndrome Davenport Donlan Syndrome Davis Lafer [rgd.mcw.edu]

Skeletal dysplasia, muscle hypoplasia, camptodactyly, and an abnormal dermatoglyphic pattern are the characteristics of this syndrome. [accessanesthesiology.mhmedical.com]

Symptoms - Tel Hashomer camptodactyly syndrome The list of signs and symptoms mentioned in various sources for Tel-Hashomer camptodactyly syndrome includes the 23 symptoms listed below: * Long thin fingers * Short head * Permanently flexed fingers * Wide [checkorphan.org]

phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine phosphokinase [ more ] 0003236 EMG abnormality 0003457 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Inguinal hernia 0000023 Joint contracture [rarediseases.info.nih.gov]