Presentation
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]
Entire Body System
- Weakness
Although muscle weakness and hypoplasia are reported features of this syndrome, further investigation of muscle function has not previously been carried out. [ncbi.nlm.nih.gov]
[…] summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3292Disease definitionTel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness [malacards.org]
Disease definition Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. [orpha.net]
Tel Hashomer camptodactyly syndrome is characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, and facial dysmorphism. [cags.org.ae]
- Arachnodactyly
Congenital contractural arachnodactyly shares skeletal features with Marfan syndrome (MFS) such as marfanoid habitus, arachnodactyly, camptodactyly and kyphoscoliosis. [caribbean.scielo.org]
Congenital contractural arachnodactyly Congenital Contractural Arachnodactyly (CCA, Beals syndrome) is a rare congenital connective tissue disorder. [howlingpixel.com]
[…] muscle of eye • Camptodactyly-sensorineural hearing loss • Cerebro-facio-articular syndrome • Cerebro-hepato-renal syndrome • Cerebro-oculo-facio-skeletal syndrome • Chromosomal trisomy syndromes (involving chromosomes 8,13,18, and 21) • Contractural arachnodactyly [rrnursingschool.biz]
[…] defects with distal limb reduction anomalies) (Aplasia cutis congenita with terminal transverse limb defects) (Aplasia cutis congenita, congenital heart defect, and frontonasal cysts, included) 6 100600 Acanthosis nigricans 7 100700 Achard syndrome (Arachnodactyly-micrognathia [becomerich.lab.u-ryukyu.ac.jp]
- Multiple Congenital Anomalies
Congenital Anomalies-Hypotonia-Seizures Syndrome 1 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Osteopathia Striata With Cranial Sclerosis Prominent Glabella-Microcephaly-Hypogenitalism Syndrome Schwartz-Jampel Syndrome Schwartz-Jampel [familydiagnosis.com]
American Journal of Medical Genetics Part A 122 (1), 51-55, 2003 27 2003 A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto‐nasal dysostosis, cleft lip/palate, limb hypoplasia … [scholar.google.it]
- Turkish
Turkish Journal of Physical Medicine and Rehabilitation http://www.ftrdergisi.com/tr/makale/1836/178/Tam-Metin. Retrieved 11/3/2013. ↑ Cummings, Michael R. (2011). Human Heredity: Principles and Issues. [ipfs.io]
Turkish Journal of Physical Medicine and Rehabilitation. Archived from the original on 2013-11-14. Retrieved 11/3/2013. CS1 maint: Archived copy as title ( link ) ^ Cummings, Michael R. (2011). Human Heredity: Principles and Issues. [en.wikipediam.org]
[…] parents suggest autosomal recessive inheritance of a previously apparently undescribed syndrome of camptodactyly, fibrosis of the medial rectus muscle of the eye, severe myopia, facial anomalies, joint contractures, and mild scoliosis in a 13-year-old Turkish [scinapse.io]
Turkish Journal of Physical Medicine and Rehabilitation. Archived from the original on 2013-11-14. Retrieved 11/3/2013. CS1 maint: Archived copy as title (link) ^ Cummings, Michael R. (2011). Human Heredity: Principles and Issues. [howlingpixel.com]
- Pain
Clin Genet 1981; 20: 211-6 Arthritis Joint Pain Arthritis is a general term which is commonly associated with a number of painful conditions affecting the joints and bones. The term arthritis literally translates to joint inflammation. [arthritisresearch.us]
Syndrome Cohen-Gibson Syndrome cold-induced sweating syndrome + Cole-Carpenter syndrome + Coloboma, Cleft Lip/Palate and Mental Retardation Syndrome Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome compartment syndrome + complex regional pain [rgd.mcw.edu]
At 9 years, a pelvic X-ray, performed because of pain- less limping, showed an anteverted left hip with Perthes- like alterations of the femoral head. The lesion was treated with traction, followed by corrective osteotomy of the femoral neck. [vdocuments.mx]
Respiratory insufficiency due to muscle weakness Hypoplasia of the nasal bone Myopathy Small for gestational age Dolichocephaly Arachnodactyly Single transverse palmar crease Death in infancy Joint contracture of the hand Trophic changes related to pain [mendelian.co]
Gastrointestinal
- Vomiting
Clinical features of lysinuric protein intolerance include vomiting, diarrhea, failure to thrive, episodes of coma, hepatosplenomegaly and osteoporosis. Life-threatening lung involvement and severe renal defect have also been reported. [nature.com]
Hearing Loss, and Camptodactyly facial hemiatrophy Facio Thoraco Genital Syndrome Faciocardiomelic Syndrome Faciocardiorenal Syndrome factitious disorder + Failed Back Surgery Syndrome Fairbank Disease Familial Antiphospholipid Syndrome Familial Cyclic Vomiting [rgd.mcw.edu]
- Diarrhea
Congenital chloride diarrhea in Poland 17 The clinical picture of congenital chloride diarrhea (MIM214700) includes a life-long watery diarrhea with a high concentration of chloride, electrolyte disturbances and metabolic alkalosis. [nature.com]
[…] shock syndrome Dennis Fairhurst Moore Syndrome Denys-Drash syndrome Der Kaloustian Mcintosh Silver Syndrome Dermal Ridges, Nelson Syndrome Desanto-Shinawi Syndrome Devriendt syndrome Dianzani Autoimmune Lymphoproliferative Syndrome diaphragm disease + Diarrhea [rgd.mcw.edu]
Musculoskeletal
- Muscle Weakness
Although muscle weakness and hypoplasia are reported features of this syndrome, further investigation of muscle function has not previously been carried out. [ncbi.nlm.nih.gov]
[…] development Seizures Breast hypoplasia Nemaline bodies Eunuchoid habitus Decreased testosterone in males Type 1 muscle fiber predominance Multiple prenatal fractures Muscle weakness Respiratory distress Respiratory insufficiency Congenital onset Mandibular [mendelian.co]
Our patient had the major manifestations of blepharophimosis and squint; narrowly arched palate with micrognathia; small mouth and mouth-breathing; facial deformities and distortions; congenital muscle weakness with resulting scoliosis; mild pectus excavatum [scinapse.io]
Skin
- Abnormal Dermatoglyphic Pattern
Skeletal dysplasia, muscle hypoplasia, camptodactyly, and an abnormal dermatoglyphic pattern are the characteristics of this syndrome. [accessanesthesiology.mhmedical.com]
Psychiatrical
- Distractibility
"Distraction - A Minimally Invasive Technique for Treating Camptodactyly and Clinodactyly". Medical Journal, Armed Forces India. 60 (3): 227–230. doi:10.1016/S0377-1237(04)80051-0. PMC 4923171. [en.wikipedia.org]
Face, Head & Neck
- 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]
Neurologic
- Asthenia
[…] the epididymis 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 [mendelian.co]
- Irritability
[…] frontotemporal dementia + Incomplete Sertoli Cell-Only Syndrome infancy electroclinical syndrome + Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis Iridocorneal Endothelial Syndrome + iridogoniodysgenesis syndrome + Irons Bhan Syndrome irritable [rgd.mcw.edu]
Treatment
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
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]
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]
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]