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]

• Inguinal Hernia

  In addition to the usual findings, the patient had bilateral inguinal hernia and atrial septal defect, not previously described as component manifestations of the syndrome. [wwww.unboundmedicine.com]

  In addition to the usual fmd- ings, the patient had bilateral inguinal hernia and atrial septal defect, not previously de- scribed as component manifestations of the syndrome. [vdocuments.mx]

  Affiliated tissues include bone and heart, and related phenotypes are hypertelorism and inguinal hernia [malacards.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]

• Atrial Septal Defect

  In addition to the usual findings, the patient had bilateral inguinal hernia and atrial septal defect, not previously described as component manifestations of the syndrome. [wwww.unboundmedicine.com]

  In addition to the usual fmd- ings, the patient had bilateral inguinal hernia and atrial septal defect, not previously de- scribed as component manifestations of the syndrome. [vdocuments.mx]

  septal defect in Tel Hashomer camptodactyly syndrome: report of a new case expanding the phenotypic spectrum of the disease. ( 8488882 ) Franceschini P....Dalforno L. 1993 6 The Tel Hashomer camptodactyly syndrome: report of a new case and review of [malacards.org]

  Inguinal Hernia and Atrial Septal Defect in Tel Hashomer Camptodactyly Syndrome: Report of a New Case Expanding the Phenotypic Spectrum of the Disease. Am J Med Genet. 1993;46:341–4. CrossRef PubMed 14. Patel ZM, Adhia RA. [springermedizin.de]

• 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]

• Regurgitation

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

  Manifestations such as joint hyperflexibility, joint dislocation, Soft loose skin, mitral valve Prolapse as found in Toriello et al.' [vdocuments.mx]

• High Arched Palate

  Features compatible with skeletal muscle and/ or connective tissue involvement include high-arched palate, hypoplastic and hypotonic muscles, scapulae ala-tae, thoracic scoliosis, clubfeet, and rigid campodactyly of fingers 2-5. [fitness-vip.com]

  arched palate * Prominent forehead * Asymmetrical face * Amyotrophy * Abnormal teeth positioning * Absent finger creases Causes - Tel Hashomer camptodactyly syndrome Not supplied. [checkorphan.org]

  He had high arched palate and dental crowding. Thoracic scoliosis and bilateral foot eversion were observed. [caribbean.scielo.org]

  She had mild facial asymmetry (Fig. 21, long philtrum, small mouth, high-arched palate, and dental crowding (Fig. 3). [vdocuments.mx]

  It is characterized by a masklike face with a small mouth, giving a whistling face appearance; deep-set eyes; small nose with a broad nasal bridge; epicanthal folds; strabismus; high arched palate; small tongue; an H-shaped cutaneous dimpling on the chin [emedicine.medscape.com]

• Abnormal Teeth

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

• Sweating

  […] or more digits that extend beyond the borders of the terminal phalanges; a low main line index resulting from a vertical orientation of the A-D radiants and numerous palmar creases obliterating the normal structure of the ridges and openings of the sweat [cags.org.ae]

  […] a1 [ 19761 who noted a high number of whorls; however, the other dermatoglyphic findings are similar to those previously described: transverse palmar creases, numerous palmar creases obliterating the normal structure of the ridges and openings of the sweat [vdocuments.site]

  […] whorls extend beyond the borders of the terminal phalanges), (b) low main line index, caused by the highly vertical orientation of the A to D radiants, and (c) numerous palmar creases that obliterate the normal structure of the ridges and openings of the sweat [jmedicalcasereports.biomedcentral.com]

• Hirsutism

  Eur J Pediatr. 1981;136(2):207-10 Tel Hashomer camptodactyly syndrome 0 *Hand Deformities, Congenital *Heart Septal Defects, Atrial *Hirsutism *Muscular Diseases Dermatoglyphics. [reference.md]

• Abnormal Dermatoglyphic Pattern

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

• Cutis Laxa

  laxa type III + autosomal recessive early-onset Parkinson's disease 15 Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss Axenfeld-Rieger syndrome + Axial Myopathy, Late-Onset + Axonal Encephalopathy with Necrotizing Myopathy [rgd.mcw.edu]

• 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]

• Suggestibility

  The parents and the other siblings were not affected, thus, suggesting that the disease is transmitted as an autosomal recessive pattern. [cags.org.ae]

  It is suggested that this condition may be primarily a myopathy. [ncbi.nlm.nih.gov]

  'n, number of patients with the sign; z, total number of patients. cle fibers, suggested an embryological failure of muscle development as the possible cause of the syndrome. [vdocuments.mx]

• Creatine Phosphokinase Increased

  […] kinase Elevated blood creatine phosphokinase Elevated circulating creatine phosphokinase Elevated creatine kinase Elevated serum CPK Elevated serum creatine phosphokinase High serum creatine kinase Increased CPK Increased creatine kinase Increased creatine [rarediseases.info.nih.gov]

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]

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

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]

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]

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]