Presentation
[…] if the condition was present at the time of inpatient admission. [icd.codes]
In some of the cases congenital heart disease was present. [ncbi.nlm.nih.gov]
Entire Body System
- Single Transverse Palmar Crease
Their common features were mental and growth retardation, low birth weight, microcephaly, stubby nose, hypertelorism, strabismus, wide set nipples, single transverse palmar creases, undescended testes, and hypoplastic scrotum. [ncbi.nlm.nih.gov]
The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. [malacards.org]
Less than 20 cases have been described The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. [dovemed.com]
Gastrointestinal
- Failure to Thrive
They showed a phenotype consistent with the “ring syndrome” with failure to thrive, minor dysmporphic features and no major anomalies. [tp.amegroups.com]
Ears
- Normal Hearing
Neurosonoscopy revealed mild widening of the ventricles, but re-evaluation after 1 month was normal. She was found to have normal hearing acuity after birth. A cardiac ultrasound examination showed a large patent ductus arteriosus. [molecularcytogenetics.biomedcentral.com]
Musculoskeletal
- Osteopenia
While patient 1 presented with clinical features usually found in patients with r(10) and terminal 10q deletion, patient 2 presented characteristics so far not described in other patients with r(10), such as Dandy-Walker variant, osteopenia, semi-flexed [agris.fao.org]
Neurologic
- Waddling Gait
Arslan M, Yis U, Vurucu S, Tunca Y, Unay B, et al. (2012) Ring chromosome 21 in the differential diagnosis of waddling gait. Brain Dev 34: 792-795. [omicsonline.org]
Workup
Clinical Report A 40-year old Italian woman came to our attention during the ART workup. She was phenotypically normal, no developmental delay, learning problems, or intellectual disability. [tandfonline.com]
X-Ray
- Small Kidney
[…] jaw Small lower jaw [ more ] 0000347 Microphthalmia Abnormally small eyeball 0000568 Muscular hypotonia Low or weak muscle tone 0001252 Pectus excavatum Funnel chest 0000767 Renal hypoplasia/aplasia Absent/small kidney Absent/underdeveloped kidney [ [rarediseases.info.nih.gov]
Treatment
The complications of Ring Chromosome 10 Syndrome may include: Severe malnutrition Kidney abnormalities Intellectual deficit Complications may occur with or without treatment, and in some cases, due to treatment also. [dovemed.com]
This era was followed by improved environmental factors which operate to produce methods of medical treatment, introduction congenital cardiac malformations. [books.google.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]
Treatment - Chromosome 10 ring Not supplied. Resources - Chromosome 10 ring Not supplied. [checkorphan.org]
Management and Treatment Since seizures with RC20 syndrome are typically difficult to treat, seizure control is very important. Every case is different and complex. [epilepsy.com]
Prognosis
Prognosis - Chromosome 10 ring Not supplied. Treatment - Chromosome 10 ring Not supplied. Resources - Chromosome 10 ring Not supplied. [checkorphan.org]
In multivariate analysis, marker chromosomes independently predicted poor prognosis in the AML96 trial ≤60 years. [bloodjournal.org]
Interestingly, leukemia with translocations involving MLL shows poor prognosis. [scielo.br]
This would greatly improve the ability to predict phenotype and contribute to better-informed prenatal counseling and prognosis. [tandfonline.com]
Etiology
Their etiology is not precisely century with the first clinical recognition of known, so we have included chapters that dis symptoms and patterns for diagnosis of car cuss many aspects of congenital cardiac mal diovascular diseases. [books.google.com]
Our goal is to determine the molecular etiology of the seizures associated with the ring chromosome 14 syndrome. [ring14.org]
Karyotype assessment is important to consider in all epilepsies where the etiology is uncertain as dysmorphic features may be subtle or not apparent. Karyotype examination should be extended to 50-100 mitoses to exclude mosaicism. [epilepsydiagnosis.org]
Visceral abnormalities were also noted: 3 patients had renal anomalies, 2 with vesico-ureteral reflux and 1 with acute renal failure of unknown etiology and 2 patients had an ASD. [molecularcytogenetics.biomedcentral.com]
Epidemiology
Management In terms of the management of ring chromosome 14 syndrome, anticonvulsive medication for seizures, as well as, proper therapy to help prevent respiratory infections in the affected individual are management measures that can be taken. [7] Epidemiology [checkrare.com]
In accordance with its purpose as a scientific research platform, the GAZEL cohort is permanently open to epidemiologic research teams. [re3data.org]
Epidemiology of adult acute myeloid leukemia: Impact of exposures on clinical phenotypes and outcomes after therapy. Cancer Epidemiol. 2015;39(6):1084-92. [ Links ] 36. Larsson SC, Wolk A. [scielo.br]
Pathophysiology
Expression and regulation of the metalloproteinase ADAM-8 during human neutrophil pathophysiological activation and its catalytic activity on L-selectin shedding. J Immunol. 2007;178:8053–63. [molecularcytogenetics.biomedcentral.com]
Expression and regulation of the metalloproteinase ADAM-8 during human neutrophil pathophysiological activation and its catalytic activity on L-selectin shedding. J Immunol. 2007;178:8053-63. 31. [cyberleninka.org]
Prevention
How can Ring Chromosome 10 Syndrome be Prevented? Currently, Ring Chromosome 10 Syndrome may not be preventable, since it is a genetic disorder. [dovemed.com]
Prevention - Chromosome 10 ring Not supplied. [checkorphan.org]
[…] karyotyping ; [8] while once born, one can do the following to ascertain a diagnosis of the condition: [7] MRI EEG Management In terms of the management of ring chromosome 14 syndrome, anticonvulsive medication for seizures, as well as, proper therapy to help prevent [checkrare.com]
Risk Factors and Preventive Measures Most chromosomal disorders are random events for which there are no preventive measures. [thisability.org]
Physicians may recommend preventive measures for affected infants and children who may be prone to repeated respiratory infections. [rarediseases.org]