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]

Two PRKAR1A patients each with a novel mutation presented a specific pattern of brachydactyly. One PDE4D patient presented with acroskyphodysplasia. Additional phenotypic differences included mental retardation in PDE4D patients. [ncbi.nlm.nih.gov]

• Camping

  The results indicate that acrodysostosis with hormone resistance is caused by a heterozygous mutation at the cAMP-binding domain A of PRKAR1A because of impaired cAMP-mediated GPCR signaling. [ncbi.nlm.nih.gov]

  […] kinase A sensitivity to cAMP. [nejm.org]

• Skin Lesion

  In addition, we report the presence of pigmented skin lesions in PRKAR1A and PDE4D patients, a feature not yet described in the acrodysostosis entity. [ncbi.nlm.nih.gov]

  Additional physical findings have been reported in individuals with acrodysostosis including repeated middle ear infections (otitis media), hearing loss, obesity, skin lesions that are flesh-colored, brown or black (pigmented nevi), blue eyes, and red [rarediseases.org]

• 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]

• 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]

• 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]

• Cryptorchidism

  […] genitalia Abnormal female external genitalia 0000055 Abnormality of immune system physiology 0010978 Anteverted nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Brachycephaly Short and broad skull 0000248 Cryptorchidism [rarediseases.info.nih.gov]

  The two conditions share several typical clinical features (e.g., metacarpal abnormalities, obesity, cryptorchidism, and resistance to hormones that depend on the generation of cAMP), but other manifestations differ. [nejm.org]

Genetic workup included nondiagnostic chromosomal microarray and skeletal dysplasia molecular panels. These clinical findings are different from any recognized form of acrodysostosis syndrome. [onlinelibrary.wiley.com]

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]

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]

Treatment: No specific treatment for acrodysostosis exist, up to date. Nevertheless, hormonal resistances, in particular to PTH and TSH, can be treated appropriately as in any other form of hypoparathyroidism and hypothyroidism. [iofbonehealth.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]

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]

[…] provide more information on acrodysostosis: National Organization for Rare Disorders -- rarediseases.org/rare-diseases/acrodysostosis NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/5724/acrodysostosis Outlook (Prognosis [mountsinai.org]

Etiology Acrodysostosis is caused by heterozygous mutations in either the PRKAR1A (17q24.2) or PDE4D (5q11.2-q12.1) genes. [orpha.net]

Cohn DH 22464252 2012 5 Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance. 61 6 Linglart A...Silve C 21651393 2011 6 Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology [malacards.org]

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. [nejm.org]

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]

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]

[…] iPPSD), a novel classification proposed by the EuroPHP network. 61 Thiele S...Linglart A 27401862 2016 34 Structure of a PKA RIα Recurrent Acrodysostosis Mutant Explains Defective cAMP-Dependent Activation. 61 Bruystens JG...Taylor SS 27825928 2016 35 [Pathophysiology [malacards.org]

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 [nejm.org]

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]

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]

[…] 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]

At last, dietary and lifestyle measures are recommended to prevent obesity. Gene PRKAR1A gene, 17q24.2 (OMIM gene/locus number #188830 ). [iofbonehealth.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]