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]

• Short Stature

  Overview A very rare syndrome characterized mainly by finger flexion, facial anomalies, short stature and muscle problems. [checkorphan.org]

  […] neck Severe short stature Genu valgum Short ribs Coxa vara Genu varum Metaphyseal irregularity Mild microcephaly Protuberant abdomen Hypoplastic ilia Disproportionate short-trunk short stature Abnormally ossified vertebrae Pseudoepiphyses Enlarged epiphyses [mendelian.co]

  Abstract Two sisters and an unrelated girl presented a distinct intrauterine growth retardation‐malformation syndrome with short stature, microcephaly, pectus excavatum, hip dislocation, hypoplastic pubic region and genitalia, camptodactyly, talipes, [onlinelibrary.wiley.com]

  Stature And Facioauriculothoracic Malformations Tibial Aplasia-Ectrodactyly Syndrome Townes-Brocks Syndrome Urban-Rogers-Meyer Syndrome • • • Back to: « Overfolded helix Causes List for Overfolded helix Some of the possible causes of Overfolded helix [familydiagnosis.com]

  Brachycephaly, short stature, dental crowding, and thoracic scoliosis are not as constant manifestations as inferred from earlier de- scriptions (Table 11). [vdocuments.mx]

• Swelling

  There is soft tissue swelling around both wrists, broadened metacarpal heads, and flexion contracture of the 5th fingers. [rrnursingschool.biz]

• 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]

• Short Finger

  finger-flexor tendons • Multiple pterygium syndrome (Escobar syndrome) • Multiple pterygium syndrome, lethal type • Nail-patella syndrome • Neu-Laxova syndrome • Oculo-dento-osseous dysplasia • Ophthalmomandibulomelic dysplasia • Oro-facio-digital syndrome [rrnursingschool.biz]

• Brachydactyly

  The feet showed generalized brachydactyly, broad first toes, and overlap of second and third toes (Fig. 5). [vdocuments.mx]

  Dermatosis, Mentalretardation, And Ear Anomalies Syndrome Conductive Deafness-Malformed External Ear Syndrome Contractures-Developmental Delay-Pierre Robin Syndrome Diastrophic Dwarfism Fetal Trimethadione Syndrome Hypertelorism And Other Facial Dysmorphism, Brachydactyly [familydiagnosis.com]

  Hands showed camptodactyly of fingers 2, 3, and 5 on the right and of fingers 2, 3, 4, and 5 on the left; there was mild cutaneous syndactyly of all fingers, no clinodactyly, but brachydactyly of both thumhs and tapering of fingers (Fig. 3 ). [vdocuments.site]

  Associations • Aarskog syndrome • Acro-fronto-facio-nasal dysostosis syndrome • Adducted thumbs syndrome (Christian syndrome) • Antley-Bixler syndrome • Arthrogryposis, distal types I and II • Arthropathy-camptodactyly syndrome • Brachydactyly type A3 [rrnursingschool.biz]

  Teeth noneruption of with maxillary hypoplasia and genu valgum Tel Hashomer camptodactyly syndrome Telencephalic leukoencephalopathy Telfer Sugar Jaeger syndrome Temporal arteritis Temporal epilepsy familial Temporomandibular ankylosis Temtamy preaxial brachydactyly [personalizedcause.com]

• Winged Scapula

  Winging scapulae, scoliosis, syndactyly and clinodactyly are commonly observed. [malacards.org]

  Winging scapulae, scoliosis, syndactyly and clinodactyly are commonly observed. The affected patients usually have normal mental development. Etiology The molecular basis of the syndrome has not yet been elucidated. [orpha.net]

• Severe Short Stature

  […] muscular hypotonia Abnormality of the thorax Hypokinesia Gowers sign Apnea Metaphyseal dysplasia Small cerebral cortex Aplasia of the inferior half of the cerebellar vermis Macrocephaly Short neck Severe short stature Genu valgum Short ribs Coxa vara [mendelian.co]

• 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 [docksci.com]

• 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. [ncbi.nlm.nih.gov]

  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]

• Strabismus

  He had moderate facial asymmetry without ocular hypertelorisrn, but with ptosis and coioboma of the upper eyeiids, bilaterally absent inner eyelashes and convergent strabismus (Fig. 6). [vdocuments.site]

  […] thumbs + + + + 28.5 (4/14) Dislocated radii + + + 21.4 (3/14) Mitral valve prolapse + + 14.3 (2114) Joint hyperilexibility + + 14.3 (2/14) Joint dislocation + + 14.3 (2/14) Lipomas + + 14.3 (2/14) Soft loose skin + + 14.3 (2/14) Ptosis + 7.1 (1/14) Strabismus [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]

  Periventricular leukomalacia Joint hypermobility Long face Weak cry Falls Dental malocclusion Frequent falls Narrow palpebral fissure Sparse body hair Easy fatigability Prominent occiput Multiple joint contractures Fatigable weakness Asthenia Short philtrum Pica Strabismus [mendelian.co]

• Low Set Ears

  In this syndrome patients have low birth weight dwarfism, flat facies with prominent forehead, epicanthal folds, microcorneae, pectus excavatum, and small, apparently low-set ears with attached lobule. [vdocuments.site]

  […] syndrome, Guadalajara type II (OMIM 211920), displays intrauterine growth retardation and camptodactyly of all fingers as leading features, and a variety of other anomalies, including bilateral hallux valgus, short toes, patella hypoplasia, short neck, low-set [rrnursingschool.biz]

  […] syndrome (OMIM 253290) [18] This is an autosomal recessive disorder characterized by early death, hydrops, cystic hygroma, dysmorphic facies (eg, hypertelorism, markedly flattened nasal bridge with hypoplastic nasal alae, cleft palate, micrognathia, low-set [emedicine.medscape.com]

  […] of secondary sex characteristics Decreased serum testosterone level Generalized joint laxity Male hypogonadism Facial diplegia Dysphagia Hyporeflexia Increased female libido Respiratory failure Facial palsy Difficulty walking Skeletal muscle atrophy Low-set [mendelian.co]

• Hypertelorism

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

  Abnormal dermatoglyphics include: facial asymmetry, hypertelorism, broad nasal bridge, long philtrum, and a small mouth. [cags.org.ae]

  Diseases related with Hypertelorism and Flexion contracture In the following list you will find some of the most common rare diseases related to Hypertelorism and Flexion contracture that can help you solving undiagnosed cases. [mendelian.co]

  Additional features may include spina bifida at C1, hypertelorism, long philtrum, and underdevelopment of the thenar and hypothenar eminences. [accessanesthesiology.mhmedical.com]

• Pierre Robin Syndrome

  Ventricular extrasystoles perodactyly Robin sequence 0 *Hand Deformities, Congenital *Heart Defects, Congenital *Pierre Robin Syndrome. [reference.md]

  Dermatosis, Mentalretardation, And Ear Anomalies Syndrome Conductive Deafness-Malformed External Ear Syndrome Contractures-Developmental Delay-Pierre Robin Syndrome Diastrophic Dwarfism Fetal Trimethadione Syndrome Hypertelorism And Other Facial Dysmorphism [familydiagnosis.com]

• 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]

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]

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]

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]

In most of its cases, camptodactyly occurs sporadically, but it has been found in several studies that it is inherited as an autosomal dominant condition.[6] Treatment[edit] Splint for the left little (pinky) finger of a 7-year-old child. [en.wikipedia.org]

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

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]