ACRDYS1 is caused by heterozygous mutation in the PRKAR1A gene and is characterized by short stature, severe brachydactyly, facial dysostosis, nasal hypoplasia, advanced bone age, obesity and multiple hormone resistance. [iofbonehealth.org]

Acrodysostosis type 2 is an autosomal dominant form of skeletal dysplasia characterised by short stature, brachydactyly, facial dysostosis and spinal stenosis. Many patients have intellectual disability and some have hormone resistance. [exeterlaboratory.com]

However, short stature can indicate an underlying medical problem. In these cases, many children can grow to a normal height with proper treatment. For others, short stature may be permanent. [healthline.com]

Idiopathic short stature (50% of cases) [ 8 ] includes familial short stature, non‐familial short stature and constitutional growth and puberty delay. [intechopen.com]

stature Decreased body height Small stature [ more ] 0004322 Short toe Short toes Stubby toes [ more ] 0001831 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal [rarediseases.info.nih.gov]

[…] of the gastrointestinal tract in infancy and childhood 508 Benign pneumatosis 509 Reduced intestinal gas 510 Increased distance between the intestinal loops 511 Intraabdominal cysts in children 512 Migratory peritoneal calcifications 514 Peritoneal pseudotumors [books.google.de]

[…] lungs in the pediatric age 315 Pneumonia pattern in children 316 Acute alveolar disease 317 Lobar pneumonia in children 318 Homogeneous lobar or segmental opacification 319 Round pneumonia 320 Pulmonary round lesions in a pediatric leukemic patient 321 Aspiration [books.google.de]

Once again thanks to the Association for Rare Diseases Baschirotto, Vicenza takes part in a very important scientific meeting, presenting its prestigious goldsmith’s art, through of an aspired award for the one who gave a main and innovative contribution [birdfoundation.org]

[…] density along the inner wall of the upper chest in the newborn 290 The respiratory system of the older infant chilld and youngster 28 Upper airways narrowing or obstruction in infancy and children 291 Retropharyngeal softtissue thickening in children 292 Stridor [books.google.de]

effusion 350 Pleural effusion with or without pulmonary pathology 351 Parietal pleural thickening without pleural fluid 352 Localized pleural thickening in children 353 The Mediastinum and the Diaphragm Mediastinum 1 Pneumomediastinum in infancy and [books.google.de]

Intraabdominal cysts in children 512 Migratory peritoneal calcifications 514 Peritoneal pseudotumors 515 The Liver 1 Hepatomegaly in the newborn period 516 Hepatomegaly in children General overview 517 Hepatomegaly with portal hypertention and obstructive jaundice [books.google.de]

\n","Hepatocellular jaundice\n","Emphysema, pulmonary\n","Serum protein electrophoresis abnormal\n\nSource: Diseases Database\n\nSee also the symptoms of Alpha 1-Antitrypsin Deficiency and ","Burst aortic aneurysm\n","Death\n\nSee also the symptoms of [webhealthnetwork.com]

impairment Deafness Hearing defect [ more ] 0000365 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Hypoplasia of the radius Underdeveloped outer large forearm bone 0002984 Hypoplasia of the ulna Underdeveloped inner large forearm bone [rarediseases.info.nih.gov]

impairment\n","Dizziness\n","Facial paralysis\n\nSee also the symptoms of Acoustic neuroma and Acou","Dizziness\n","Facial paralysis\n","Tinnitus\n","Hearing impairment\n\nSee also the symptoms of Acoustic Neurinoma and Acou","Bilateral acoustic neurinoma [webhealthnetwork.com]

However, the hearing impairment is much more important. [intechopen.com]

Individuals often have advanced bone age, may be obese and some are resistant to multiple hormones including parathyroid, calcitonin and growth hormone releasing hormone. [exeterlaboratory.com]

ACRDYS1 is caused by heterozygous mutation in the PRKAR1A gene and is characterized by short stature, severe brachydactyly, facial dysostosis, nasal hypoplasia, advanced bone age, obesity and multiple hormone resistance. [iofbonehealth.org]

bone age - Broad nose / nasal bridge - Cone epiphyses / epiphysis - Depressed nasal bridge - Flattened nose - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Intellectual deficit / mental / psychomotor retardation / learning disability [csbg.cnb.csic.es]

bone age Early bone maturation [ more ] 0005616 Autism 0000717 Autosomal dominant inheritance 0000006 Blue irides Blue eyes 0000635 Broad nasal tip Broad tip of nose Broad, upturned nose Increased breadth of nasal tip Increased breadth of tip of nose [rarediseases.info.nih.gov]

Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin. [uniprot.org]

Individuals often have advanced bone age, may be obese and some are resistant to multiple hormones including parathyroid, calcitonin and growth hormone releasing hormone. [exeterlaboratory.com]

ACRDYS1 is caused by heterozygous mutation in the PRKAR1A gene and is characterized by short stature, severe brachydactyly, facial dysostosis, nasal hypoplasia, advanced bone age, obesity and multiple hormone resistance. [iofbonehealth.org]

bone age - Broad nose / nasal bridge - Cone epiphyses / epiphysis - Depressed nasal bridge - Flattened nose - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Intellectual deficit / mental / psychomotor retardation / learning disability [csbg.cnb.csic.es]

bone age Early bone maturation [ more ] 0005616 Autism 0000717 Autosomal dominant inheritance 0000006 Blue irides Blue eyes 0000635 Broad nasal tip Broad tip of nose Broad, upturned nose Increased breadth of nasal tip Increased breadth of tip of nose [rarediseases.info.nih.gov]

Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin. [uniprot.org]

New chapters on skeletal dysplasias, the genetics of osteoporosis, radiological imaging of bone and a practical approach to a child with recurrent fractures are included. [books.google.com]

Type IV has an intermediate severity with a mild short stature, moderate deformities after recurrent fractures, dentinogenesis imperfecta and normal sclera. If the chains of type I collagen are affected, the transmission is autosomal dominant. [intechopen.com]

Summary Two Japanese siblings, a 2-year-old girl and a 7-month-old boy, had a syndrome of mental retardation, severe nasal hypoplasia, peripheral dysostosis, and blue eyes. [link.springer.com]

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]

eyes 0000635 Broad nasal tip Broad tip of nose Broad, upturned nose Increased breadth of nasal tip Increased breadth of tip of nose Increased width of nasal tip Increased width of tip of nose Nasal tip, broad Nasal tip, wide Wide tip of nose [ more ] [rarediseases.info.nih.gov]

[…] chest in the newborn 283 Unilateral hyperlucent thorax in the newborn 284 Coarse parenchymal markings with irregular bilateral changes and hyperinflation in the newborn 285 Cystlike structures in the lung parenchyma of the newborn 286 Neonatal platlet atelectasis [books.google.de]

distention 484 Malabsorption patterns of the small bowel 486 Fixed stiff small bowel loops 487 Destruction of the small bowel mucosa 488 Deformation of the terminal ileum 489 Lesions mimikig regional enteritis 490 Abnormalities of the ileocecal valve [books.google.de]

lung 313 Bilateral underaeration of the lungs in the pediatric age 315 Pneumonia pattern in children 316 Acute alveolar disease 317 Lobar pneumonia in children 318 Homogeneous lobar or segmental opacification 319 Round pneumonia 320 Pulmonary round lesions [books.google.de]

stricture or narrowing 496 Segmental colonic narrowing in children 497 Toxic megacolon 498 Distention of the small andor large bowelnonobstructive paralytic ileus 499 Distended large bowel 500 Large bowel obstruction 502 Large retrorectal space 503 Large [books.google.de]

effusion 350 Pleural effusion with or without pulmonary pathology 351 Parietal pleural thickening without pleural fluid 352 Localized pleural thickening in children 353 The Mediastinum and the Diaphragm Mediastinum 1 Pneumomediastinum in infancy and [books.google.de]