acrodysostosis 1 with or without hormone resistance
An autosomal dominant multisystem disorder (OMIM:101800) characterised by skeletal, endocrine, and neurologic defects
• Skeletal defects Brachycephaly, midface hypoplasia, small upturned nose, brachydactyly, lumbar spinal stenosis.
• Endocrine defects Hypothyroidism and hypogonadism in males, and irregular menses in females.
• Neurological defects Developmental disability is common, but of variable severity and associated with significant behavioural problems.
Most cases are sporadic; there is evidence of a paternal age effect.
Molecular pathology Defects of PRKAR1A, which encodes a regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells, cause acrodysostosis 1 with or without hormone resistance
Synonyms Acrodysplasia, Arkless-Graham syndrome, Maroteaux-Malamut disease, Maroteaux-Malamut syndrome, peripheral dysostosis-nasal hypoplasia-mental retardation syndrome, pug nose-peripheral dysostosis syndrome
References Am J Hum Genet. 2012 April 6; 90(4): 746–751