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Acrodysostosis

Acrodysplasia


Presentation

  • This family presents a further example of autosomal dominant inheritance of acrodysostosis and highlights the difficulty in distinguishing between acrodysostosis and pseudohypoparathyroidism.[ncbi.nlm.nih.gov]
  • While patients with PRKAR1A mutations (referred to as ACRDYS type 1) constantly present with significant hormonal resistance, hormonal resistance in patients with PDE4D mutations (referred to as ACRDYS type 2) is rare, and when present, is relatively[orpha.net]
Swelling
  • There was widespread neuropathic pain. 15 days after admission, she developed swelling and redness of the left lower extremity and the venous doppler ultrasonography showed left acute and right past DVT. We treated DVT with anticoagulant therapy.[ncbi.nlm.nih.gov]
Difficulty Walking
  • She presented at our outpatient department complaining of lowback pain and difficulty walking. She had marked facial and peripheral appearance of acrodysostosis. Spinal MRI revealed extensive spinal stenosis.[ncbi.nlm.nih.gov]
Thrombosis
  • We report one further adult case of acrodysostosis with severe neurologic findings including myelopathy and spastic paraparesis due to diffuse spinal stenosis and recurrent deep vein thrombosis possibly caused by neurologic deficits.[ncbi.nlm.nih.gov]
Neck Pain
  • We report a 43-year-old woman who had back and neck pain with weakness in the extremities of several years. 1 year before admission to our hospital, she had been treated with a missed diagnosis of sero (-) spondyloarthropathy but had not benefited.[ncbi.nlm.nih.gov]
Behavior Disorder
  • Various degrees of intellectual disability and/or behavioral disorders have also been reported in ACRDYS patients. Etiology Acrodysostosis is caused by heterozygous mutations in either the PRKAR1A (17q24.2) or PDE4D (5q11.2-q12.1) genes.[orpha.net]
  • Moreover, various degrees of intellectual disability and/or behavioral disorders have also been described in patients affected by Acrodysostosis.[iofbonehealth.org]
Round Face
  • […] interpedicular distance 0008450 Neonatal epiphyseal stippling Speckled calcifications in bone end parts in neonates 0005756 Obesity Having too much body fat 0001513 Optic atrophy 0000648 Red hair Red hair color Red head (hair color) [ more ] 0002297 Round[rarediseases.info.nih.gov]
Broad, Low Nasal Bridge
  • In addition, he also had facial abnormalities of frontal bossing, hypertelorism, maxillary hypoplasia, broad low nasal bridge, short upturned nose with anteverted nostrils and triangular mouth.[ncbi.nlm.nih.gov]
Clumsiness
  • The clinical examination revealed that his movements were clumsy and that he had disproportionally short limbs.[ncbi.nlm.nih.gov]
Myelopathy
  • We report one further adult case of acrodysostosis with severe neurologic findings including myelopathy and spastic paraparesis due to diffuse spinal stenosis and recurrent deep vein thrombosis possibly caused by neurologic deficits.[ncbi.nlm.nih.gov]
Unable to Walk
  • She became unable to walk, thereafter she underwent decompression surgery with a diagnosis of degenerative spinal stenosis. She presented at our outpatient department complaining of lowback pain and difficulty walking.[ncbi.nlm.nih.gov]

Workup

  • Clinical Testing and Workup Prenatal fetal ultrasonography, an exam in which reflected sound waves create an image of the developing fetus, may potentially reveal intrauterine growth retardation and short long bones that are compatible with the diagnosis[rarediseases.org]
Soft Tissue Calcification
  • Furthermore, there were no soft tissue calcifications and no intracranial calcification as can be seen in PH and PPH. Laboratory findings were normal.[ncbi.nlm.nih.gov]

Treatment

  • Management and treatment There is no specific treatment for acrodysostosis.[orpha.net]
  • Standard Therapies Treatment The treatment of acrodysostosis is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists.[rarediseases.org]
  • Treatment - Acrodysostosis There are no standardized treatment protocols or guidelines for affected individuals. Due to the rarity of the disease, there are no treatment trials that have been tested on a large group of patients.[checkorphan.org]
  • Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.de]
  • Treatment The treatment depends greatly on the physical or cognitive defects that are present. Orthopedic treatment and early intervention that are accompanied with special education is highly recommended by most physicians.[medigest.uk]

Prognosis

  • Prognosis Prognosis is unknown due to a lack of long-term patient data. Functional consequences, however, can decrease a patient's quality of life. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Diagnosis - Acrodysostosis Prognosis - Acrodysostosis Problems depend on the degree of skeletal involvement and mental retardation. In general, patients do relatively well.[checkorphan.org]
  • Expectations (prognosis) Problems depend on the degree of skeletal involvement and intellectual disability . In general, patients do relatively well.[coordinatedhealth.com]
  • Outlook (Prognosis) Problems depend on the degree of skeletal involvement and intellectual disability . In general, people do well.[baptistjax.com]
  • Parents should talk to their children’s physicians and medical team about their specific case, associated symptoms and overall prognosis.[rarediseases.org]

Etiology

  • Etiology Acrodysostosis is caused by heterozygous mutations in either the PRKAR1A (17q24.2) or PDE4D (5q11.2-q12.1) genes.[orpha.net]
  • Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism. Pediatr Radiol 2001;31:2-9 Grebe H. Die Achondrogenesis : ein einfach rezessives Erbmerkmal.[rrnursingschool.biz]
  • Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism. Pediatr Radiol 2001 ;31: 2 - 9 9.[dx.doi.org]

Epidemiology

  • Summary Epidemiology Less than 80 cases have been reported in the literature to date.[orpha.net]
  • A PRKAR1A mutation has been identified in acrodysostosis with hormone resistance. [4] Epidemiology This disorder is present at birth, however, it may not be understood until several years after birth.[checkrare.com]
Sex distribution
Age distribution

Pathophysiology

  • He has served on NIH review panels in the neuroscience and drug discovery areas, including as founding Chair of the Pathophysiological Basis of Mental Disorders and Addictions study section, and is Associate Editor for the Journal of Pharmacology and[books.google.com]
  • Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology[dx.doi.org]

Prevention

  • Dietary and lifestyle measures to prevent obesity and supportive care for cognitive functions are recommended. Attention must be given in children to height, growth velocity, and pubertal development.[orpha.net]
  • […] resistance, Arkless-Graham syndrome, Maroteaux-Malamut syndrome, Acrodysplasia, Nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome, Peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) syndrome Symptoms - Acrodysostosis Prevention[checkorphan.org]
  • Our in vitro studies indicate that PRKAR1A mutants are expressed when transfected in a cell model, and prevent the dissociation of the catalytic subunit of PKA. The impact of the PDE4D mutations on the protein function remains unsolved.[bone-abstracts.org]
  • Thyroid hormone supplementation and vitamin D supplements may contribute to improve growth and prevent obesity. Early intervention is important to ensure that children with acrodysostosis reach their full potential.[rarediseases.org]
  • At last, dietary and lifestyle measures are recommended to prevent obesity. Gene PRKAR1A gene, 17q24.2 (OMIM gene/locus number #188830 ).[iofbonehealth.org]

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