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Spondylocarpotarsal Synostosis

SCT


Presentation

  • A unilateral or bilateral unsegmented bar may be present in the thoracic spine. Presenting clinical signs are congenital scoliosis early in life, and shortening of the trunk with scoliosis and/or lordosis in older children.[ncbi.nlm.nih.gov]
Recurrent Otitis Media
  • We report on an 11-year-old boy with thoracolumbar fusion, carpal synostosis, short stature, scoliosis, lordosis, defective dentition, and recurrent otitis media consistent with the diagnosis of spondylocarpotarsal synostosis syndrome.[ncbi.nlm.nih.gov]
  • Recurrent otitis media requiredmyringotomy and tubal insertion at 6 and 10 years,with consequent hearing improvement.[docslide.fr]
Dysmorphic Face
  • A review by Coelhoet al. [1998] summarizes the most consistent clinicalmanifestations, including short trunk, flat feet, deaf-ness, hypertelorism, mildly dysmorphic face, defectivedentition, and delayed bone age.[docslide.fr]
Dental Abscess
  • He wassubsequently evaluated for dental abscesses, whichrequired numerous dental restorations.[docslide.fr]
Retinal Pigmentation
  • Lens opacities, rarefaction of retinal pigmentation, and narrowing of retinal vessels, detected in two patients, are findings that have not been described to date in this condition.[ncbi.nlm.nih.gov]
  • pigmentation ; Autosomal recessive inheritance ; Block vertebrae ; Bowed humerus ; Brachydactyly ; Broad face ; Broad nasal tip ; C2-C3 subluxation ; Capitate-hamate fusion ; Carpal synostosis ; Cataract ; Cleft palate ; Clinodactyly of the 5th finger[mousephenotype.org]
  • Lens opacities, rarefaction of retinal pigmentation, and narrowing of retinal vessels were seen in 2 patients.[bio2rdf.org]
  • One of the consanguineous families with SCT syndrome and eye abnormalities that included lens opacities, rarefaction of the retinal pigmentation, and narrowing of the retinal vessels was reported by Steiner et al in 1999 (fig 1, International Skeletal[jmg.bmj.com]
Lordosis
  • We report on an 11-year-old boy with thoracolumbar fusion, carpal synostosis, short stature, scoliosis, lordosis, defective dentition, and recurrent otitis media consistent with the diagnosis of spondylocarpotarsal synostosis syndrome.[ncbi.nlm.nih.gov]
Joint Limitation
  • Cleft palate, sensorineural or mixed hearing loss, joint limitation, clinodactyly, and dental enamel hypoplasia are variable manifestations. Twenty-five patients have been reported.[ncbi.nlm.nih.gov]
  • Several additional manifestations have been described including cleft palate, sensorineural or mixed hearing loss, joint limitations, clinodactyly and enamel hypoplasia.[nature.com]
Coxa Valga
  • Lordosis of distalthoracic and lumbar spine was noted in addition tobilateral coxa valga deformity. No spondylolisthesis orspondylolysis was identified.[docslide.fr]
Withdrawn
  • […] symbols: ABP-278, FH1, FLN1L, LRS1, TABP, TAP ) Mouse Orthologs Flnb (Withdrawn symbols: AL024016 ) Source OMIM:272460 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes[mousephenotype.org]
Short Neck
  • neck ; Short nose ; Talipes equinovarus ; Tarsal synostosis Associated Genes FLNB (Withdrawn symbols: ABP-278, FH1, FLN1L, LRS1, TABP, TAP ) Mouse Orthologs Flnb (Withdrawn symbols: AL024016 ) Source OMIM:272460 (names, synonyms, disease associated genes[mousephenotype.org]
  • Facial features included ptosis, low set ears and short neck. A simple sacral dimple was noted, and spinal cord was low set (L2–L3; Figure 3 ).[nature.com]
  • neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Tarsal synostosis Fused ankle bones 0008368 Showing of 32 Last updated[rarediseases.info.nih.gov]
  • She had a short neck withlimited movements, kyphoscoliosis with vertebralprominence in the cervical and thoracic regions, mildarticular limitation at the elbow joints, bilateralbrachydactyly, clinodactyly of the fifth finger, andsmall hands and feet with[docslide.com.br]
  • neck with restricted mobility and pain Organ abnormalities including kidney, lungs, heart, liver, GI tract Chest deformity Misshapen, fused or absent ribs Breathing difficulties Short stature (dwarfism) Abnormal growth of arms and legs Hand and foot[chop.edu]
Prominent Nasal Root
  • Hehad a round face with a small chin and a long philtrum.He had a slightly prominent nasal root and broad nasaltip that was upturned with anteverted nares.[docslide.fr]
Dysuria
  • He had an on and off pain bilaterally in lumbar region for the past 1 month, with dysuria. No history of fever was forthcoming.[ncbi.nlm.nih.gov]

Workup

Delayed Bone Age
  • A review by Coelhoet al. [1998] summarizes the most consistent clinicalmanifestations, including short trunk, flat feet, deaf-ness, hypertelorism, mildly dysmorphic face, defectivedentition, and delayed bone age.[docslide.fr]
  • She had short stature, scoliosis, short trunk, delayed bone age, vertebral fusions, and capitate-hamate fusion. She did not have facial dysmorphic features.[bio2rdf.org]

Treatment

  • J Bone Miner Res (2006) 1.20 Radiographic evaluation of idiopathic clubfeet undergoing Ponseti treatment.[pubrank.carbocation.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]
  • 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]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]

Prognosis

  • , only in approximately, 1 out of every 10,000 newborn infants Please find comprehensive information on Congenital Scoliosis regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis[dovemed.com]
  • Prognosis SCT syndrome does not affect life expectancy. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • […] lamivudine prophylaxis in preventing hepatitis B virus reactivation in patients with resolved infection undergoing allogeneic SCT and receiving rituximab. ( 30232604 ) Zappulo E...Mikulska M 2018 11 Influence of pre-transplant minimal residual disease on prognosis[malacards.org]
  • The type of scoliosis in our patient is malignantly progressive early in life and steadily during growth (poor prognosis). It was therefore treated through stabilisation of the spine. This was done by a posterior in situ fusion.[scoliosisjournal.biomedcentral.com]

Etiology

  • Elsevier Health Sciences, 18.08.2013 - 979 Seiten Smith’s Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders[books.google.de]
  • Etiology SCT syndrome is due to mutations in the FLNB gene (localized to 3p14.3) that encodes cytoskeletal protein filamin B. Diagnostic methods Diagnosis is confirmed by skeletal x-rays and genetic testing.[orpha.net]
  • Hall JG : Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles. Eur J Med Genet 2014; 57 : 464–472. 9.[nature.com]

Epidemiology

  • Summary Epidemiology The prevalence of SCT syndrome is unknown. Clinical description While the clinical onset is postnatal, proper diagnosis becomes evident later in childhood.[orpha.net]
Sex distribution
Age distribution

Pathophysiology

  • Because these disorders cause alterations observed in other human diseases, we are also developing them as models for dissecting the pathophysiology of those diseases.[bcchr.ca]

Prevention

  • […] is observed, only in approximately, 1 out of every 10,000 newborn infants Please find comprehensive information on Congenital Scoliosis regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention[dovemed.com]
  • Hee-Je Kim Professor The Catholic University of Korea Seoul South Korea Primary Prophylaxis to Prevent the Development of Hepatic Encephalopathy in Cirrhotic Patients with Acute Variceal Bleeding.[pubfacts.com]
  • Cameron-Christie S.R....Robertson S.P. 2018 9 Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB. ( 29566257 ) Salian S....Girisha K.M. 2018 10 Efficacy of lamivudine prophylaxis in preventing[malacards.org]
  • The first hinge region prevents binding to ITGA and ITGB subunits. Post-translational modifications ISGylation prevents ability to interact with the upstream activators of the JNK cascade and inhibits IFNA-induced JNK signaling.[abcam.com]

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