Presentation
The signs and symptoms of Acrodysplasia Scoliosis may include: Very frequently present symptoms in 80-99% of the cases: Brachydactyly Scoliosis Frequently present symptoms in 30-79% of the cases: Spina bifida occulta Vertebral segmentation defect (Source [dovemed.com]
Treatment - Acrodysplasia scoliosis Treatment is based on the signs and symptoms present in each person. Resources - Acrodysplasia scoliosis [checkorphan.org]
Treatment is based on the signs and symptoms present in each person. MalaCards based summary : Acrodysplasia Scoliosis, is also known as brachydactyly-scoliosis-carpal fusion syndrome. [malacards.org]
Brachydactyly-scoliosis-carpal fusion syndrome Prata-Liberal-Goncalves syndrome Prevalence: Inheritance: - Age of onset: Neonatal ICD-10: Q87.8 OMIM: - UMLS: C2931761 C2931790 MeSH: C538180 C538277 GARD: 491 MedDRA: - The documents contained in this web site are presented [orpha.net]
Entire Body System
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Short Finger
Brachydactyly - scoliosis - carpal fusion: A rare genetic disorder characterized by short fingers and toes, scoliosis (curved spine) and fused hand bones. [checkorphan.org]
The condition is characterized by scoliosis, brachydactyly ( unusually short fingers and toes), spina bifida occulta, and 5 ... ... [familydiagnosis.com]
The condition is characterized by scoliosis, brachydactyly (unusually short fingers and toes), spina bifida occulta, and carpal synostosis (fused bones of the wrist). [rarediseases.info.nih.gov]
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Physician
There are many physicians who do not have a desk computer or do not History feel at ease in using one. [books.google.de]
In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]
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Dysostosis
Homepage Rare diseases Search Search for a rare disease Acrodysplasia scoliosis Disease definition Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals [orpha.net]
[…] syndrome Say–Barber–Miller syndrome Say–Carpenter–syndrome Say–Field–Coldwell syndrome Say–Meyer syndrome Sc Sca • Sch • Sci–Scl • Sco–Scr Sca Scabies Scab Face SCAD deficiency Scalp defects postaxial polydactyly Scalp–ear–nipple syndrome Scapuloiliac dysostosis [sosu.us]
Type 2F Alcohol fetopathy facial abnormalities and central MCDCA puberty Familial spastic paraplegia Cryptorchidism neuronal Type 2F Charcot-Marie- nervous system dysfunction concentric annular Macular Spastic paraplegia with precocious Craniofacial dysostosis [yumpu.com]
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Difficulty Walking
walking Rare - less than 30% cases Other less frequent symptoms Patients with Scoliosis and Abnormality of the skeletal system. may also develop some of the following symptoms: Rare Symptoms - Less than 30% cases Distal sensory impairment Pes cavus Pectus [mendelian.co]
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Broad Great Toe
great toe macrocranium Short-chain acyl-CoA dehydrogenase deficiency Short limb dwarf lethal Colavita–Kozlowski type Short limb dwarf lethal Mcalister–Crane type Short limb dwarf oedema iris coloboma Short limb dwarfism Al Gazali type Short limbs abnormal [sosu.us]
Musculoskeletal
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Brachydactyly
« Prata-Liberal-Goncalves syndrome Disease Articles Brachydactyly : Summary : Brachydactyly is a general term characterized by disproportionately short fingers and toes. [familydiagnosis.com]
Note that Brachydactyly - scoliosis - carpal fusion symptoms usually refers to various symptoms known to a patient, but the phrase Brachydactyly - scoliosis - carpal fusion signs may refer to those signs only noticable by a doctor. [checkorphan.org]
MalaCards based summary : Acrodysplasia Scoliosis, is also known as brachydactyly-scoliosis-carpal fusion syndrome. Affiliated tissues include bone, and related phenotypes are scoliosis and brachydactyly [malacards.org]
Homepage Rare diseases Search Search for a rare disease Acrodysplasia scoliosis Disease definition Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals [orpha.net]
Treatment
Treatment Please input treatment information here. You can also add sub-section(s) at will. Labs working on this disease Please input related labs here. References Please input treatment information here. [pediascape.org]
The complications of Acrodysplasia Scoliosis may include: Severe spinal curvature Walking difficulties Decreased quality of life Complications may occur with or without treatment, and in some cases, due to treatment also. [dovemed.com]
Treatment - Acrodysplasia scoliosis Treatment is based on the signs and symptoms present in each person. Resources - Acrodysplasia scoliosis [checkorphan.org]
Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. [rarediseases.info.nih.gov]
Prognosis
Prognosis - Acrodysplasia scoliosis Not supplied. Treatment - Acrodysplasia scoliosis Treatment is based on the signs and symptoms present in each person. Resources - Acrodysplasia scoliosis [checkorphan.org]
Etiology
Synonyms acrodysplasia scoliosis brachydactyly - scoliosis - carpal fusion Etiology Please input defination information here. Diagnosis Please input defination information here. Symptoms Please input defination information here. [pediascape.org]
(Etiology) The underlying genetic cause of Acrodysplasia Scoliosis is unknown But, it appears to be inherited in an autosomal recessive manner (Source: Acrodysplasia Scoliosis; Genetic and Rare Diseases Information Center (GARD) of National Center for [dovemed.com]
Epidemiology
Gluten ataxia in per- spective: epidemiology, genetic susceptibility and clinical characteristics. Sulforaphane can restrain PRR signaling by without delay attenuating TLR4 activation while curcumin inhibits both TLR4 and ACQUIESCENCE1/2. [ddna.org]
Pathophysiology
Pathophysiological Consequences of Alterations in the INE Network As in all processes based on the equilibrium between connections in a network of interactions, there could be conditions in which such links are disrupted or unstable. [ddna.org]
Prevention
How can Acrodysplasia Scoliosis be Prevented? Currently, Acrodysplasia Scoliosis may not be preventable, since it is a genetic disorder. [dovemed.com]
Prevention - Acrodysplasia scoliosis Not supplied. [checkorphan.org]
The overwhelming Allied victory ensured the safety of Vienna from the Franco-Bavarian army, thus preventing the collapse … Part of the Battle of Blenheim tapestry at Blenheim Palace by Judocus de Vos. [wikivisually.com]