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Tel Hashomer Camptodactyly Syndrome

Tel-Hashomer Camptodactyly Syndrome


Presentation

  • The gene for Tel-Hashomer camptodactyly syndrome is present in all populations around the world.[ncbi.nlm.nih.gov]
  • The present description expands the phenotypic spectrum of the syndrome and gives new support to the hypothesized pleiotropic effects of the THCS gene on connective tissue.[ncbi.nlm.nih.gov]
  • None of the salient features of LDS are present in our patient. Thereafter, when myopathy is included, the search refers only to this present syndrome (THCS). The important differential diagnosis is MFS.[caribbean.scielo.org]
  • Herein, we present another case report and review of the literature of other syndromes associated with camptodactyly and mitral valve prolapse. Further cases with this syndrome need to be reported for mapping of the candidate loci.[ncbi.nlm.nih.gov]
Weight Gain
  • 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]
Spindle-shaped Fingers
  • 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]
Marfanoid Habitus
  • Congenital contractural arachnodactyly shares skeletal features with Marfan syndrome (MFS) such as marfanoid habitus, arachnodactyly, camptodactyly and kyphoscoliosis.[caribbean.scielo.org]
Regurgitation
  • None of them had abnormalities of the heart (5).Our patient had mitral valve prolapse and mitral regurgitation.[caribbean.scielo.org]
Abnormal Teeth
  • teeth positioning * Absent finger creases Causes - Tel Hashomer camptodactyly syndrome Not supplied.[checkorphan.org]
Mitral Valve Prolapse
  • None of them had abnormalities of the heart (5).Our patient had mitral valve prolapse and mitral regurgitation.[caribbean.scielo.org]
  • 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.[ncbi.nlm.nih.gov]
  • 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]
  • 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]
  • 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]
Thin Fingers
  • 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]
Long, Thin Fingers
  • 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]

Workup

Creatine Phosphokinase Increased
  • 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]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Treatment - Tel Hashomer camptodactyly syndrome Not supplied. Resources - Tel Hashomer camptodactyly syndrome Not supplied.[checkorphan.org]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]

Prognosis

  • Prognosis - Tel Hashomer camptodactyly syndrome Not supplied. Treatment - Tel Hashomer camptodactyly syndrome Not supplied. Resources - Tel Hashomer camptodactyly syndrome Not supplied.[checkorphan.org]

Etiology

  • Etiology The molecular basis of the syndrome has not yet been elucidated. Genetic counseling Inheritance is probably autosomal recessive. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Etiology The molecular basis of the syndrome has not yet been elucidated. Genetic counseling Inheritance is probably autosomal recessive. Last updated: 1/5/2011 This table lists symptoms that people with this disease may have.[rarediseases.info.nih.gov]
  • Etiology The molecular basis of the syndrome has not yet been elucidated. Genetic counseling Inheritance is probably autosomal recessive . Last updated: 1/5/2011 This table lists symptoms that people with this disease may have.[rarediseases.info.nih.gov]

Epidemiology

  • Summary Epidemiology Up to 2005, 20 cases had been reported. Clinical description Dysmorphic features include facial asymmetry, hypertelorism, broad nasal bridge, long philtrum and a small mouth.[orpha.net]
  • Epidemiology Up to 2005, 20 cases had been reported. Clinical description Dysmorphic features include facial asymmetry, hypertelorism, broad nasal bridge, long philtrum and a small mouth.[rarediseases.info.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • This will help to diagnose this very rare syndrome and delve into the pathophysiology and molecular analysis of the disorder. ACKNOWLEDGEMENT We thank the family for the photograph. REFERENCES 1. Goodman RM, Katznelson MB, Manor E.[caribbean.scielo.org]

Prevention

  • Prevention - Tel Hashomer camptodactyly syndrome Not supplied. Diagnosis - Tel Hashomer camptodactyly syndrome Not supplied. Prognosis - Tel Hashomer camptodactyly syndrome Not supplied. Treatment - Tel Hashomer camptodactyly syndrome Not supplied.[checkorphan.org]
  • The disease is considered relatively benign when appropriately treated with citrulline supplementation and a low-protein diet, but this treatment may be insufficient in preventing severe complications.[nature.com]

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