The gene for Tel-Hashomer camptodactyly syndrome is present in all populations around the world. [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]

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. [wwww.unboundmedicine.com]

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. [pesquisa.bvsalud.org]

• 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]

• Single Transverse Palmar Crease

  transverse palmar crease Death in infancy Joint contracture of the hand Trophic changes related to pain Akinesia Congenital cataract Scaphocephaly Fetal akinesia sequence Overlapping fingers Oval face Short stature Cataract Cerebellar atrophy Coarse [mendelian.co]

• 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]

• 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]

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

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

Cengage Learning. pp. 87, 88. ^ "Camptodactyly Treatments". Boston Children's Hospital. 2013. Retrieved 2017-09-05. ^ Goldfarb, Charles (27 March 2012). "Camptodactyly". Congenital Hand and Arm Differences. Retrieved 2017-09-05. [en.wikipediam.org]

Overall, 16 of 21 patients had loss of flexion after operative treatment. Conservative treatment of camptodactyly is recommended for digits with less than 60° lack of extension. [journals.sagepub.com]

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

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]

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]

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 - 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]