acrodysostosis 1 with or without hormone resistance

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acrodysostosis 1 with or without hormone resistance2016-11-24T13:05:13+00:00

acrodysostosis 1 with or without hormone resistance 

ENDOCRINOLOGY, METABOLISM

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

http://www.uniprot.org/uniprot/Q08499

http://omim.org/entry/101800

 

 

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