Acrodysostosis

Jump to navigation Jump to search
The printable version is no longer supported and may have rendering errors. Please update your browser bookmarks and please use the default browser print function instead.
Acrodysostosis syndrome
ICD-10 GroupMajor.minor
ICD-9 xxx
OMIM 101800
DiseasesDB 31405

WikiDoc Resources for Acrodysostosis

Articles

Most recent articles on Acrodysostosis

Most cited articles on Acrodysostosis

Review articles on Acrodysostosis

Articles on Acrodysostosis in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Acrodysostosis

Images of Acrodysostosis

Photos of Acrodysostosis

Podcasts & MP3s on Acrodysostosis

Videos on Acrodysostosis

Evidence Based Medicine

Cochrane Collaboration on Acrodysostosis

Bandolier on Acrodysostosis

TRIP on Acrodysostosis

Clinical Trials

Ongoing Trials on Acrodysostosis at Clinical Trials.gov

Trial results on Acrodysostosis

Clinical Trials on Acrodysostosis at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Acrodysostosis

NICE Guidance on Acrodysostosis

NHS PRODIGY Guidance

FDA on Acrodysostosis

CDC on Acrodysostosis

Books

Books on Acrodysostosis

News

Acrodysostosis in the news

Be alerted to news on Acrodysostosis

News trends on Acrodysostosis

Commentary

Blogs on Acrodysostosis

Definitions

Definitions of Acrodysostosis

Patient Resources / Community

Patient resources on Acrodysostosis

Discussion groups on Acrodysostosis

Patient Handouts on Acrodysostosis

Directions to Hospitals Treating Acrodysostosis

Risk calculators and risk factors for Acrodysostosis

Healthcare Provider Resources

Symptoms of Acrodysostosis

Causes & Risk Factors for Acrodysostosis

Diagnostic studies for Acrodysostosis

Treatment of Acrodysostosis

Continuing Medical Education (CME)

CME Programs on Acrodysostosis

International

Acrodysostosis en Espanol

Acrodysostosis en Francais

Business

Acrodysostosis in the Marketplace

Patents on Acrodysostosis

Experimental / Informatics

List of terms related to Acrodysostosis

Overview

Acrodysostosis also known as Arkless-Graham syndrome or Maroteaux-Malamut syndrome is a rare congenital malformation syndrome which involves shortening of the knuckles of the legs and hands, mental deficiency in approximately 90% of affected children, and peculiar fecies. Other common abnormalities include short head (which is measured front to back i.e. brachycephaly), small broad upturned nose with flat nasal bridge, protruding jaw, Intrauterine growth retardation and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur. Most reported cases have been sporadic, but it has been suggested that the condition might be genetically related i.e. in a autosomal dominant mode of transmission. Both males and females are affected. The disorder has been associated with older parental age.

Differentiating Acrodysostosis From Other Diseases

Acrodysostosis be differentiated from other causes of abnormal parathyroid hormone(PTH) and parathyroid hormone resistance like Blomstrand chondrodysplasia, pseudohypoparathyroidism, hypomagnesemia, hypoparathyroidism and hyperparathyroidism.[1][2][3][4]

Differential diagnosis of Pseudohypoparathyroidism
Disorders Mechanism Laboratory findings
Serum PTH Serum Calcium Serum Phosphate Other findings
Pseudohypoparathyroidism [1][2][3] Type 1a
Type 1b
Type 1c
Type 2
Pseudopseudohypoparathyroidism Normal Normal Normal --
Hypoparathyroidism
Hypomagnesemia[5][4] Inappropriately Normal/ --
Acrodysostosis Acrodysostosis type 1 Multiple hormone resistance
Acrodysostosis type 2 Multiple hormone resistance
Blomstrand chondrodysplasia Urinary Phosphate, Urinary cAMP
Hyperparathyroidism Primary hyperparathyroidism ↓/Normal Normal/↑ calcitriol
Secondary hyperparathyroidism ↓/Normal --
Tertiary hyperparathyroidism

--

References

Further Reading

  • Arkless, B. Graham: An unusual case of brachydactyly? Peripheral dysostosis? Pseudopseudohypoparathyroidism? Cone epiphyses? American Journal of Roentgenology, Leesburg, Virginia, 1967, 99: 724-735.
  • P. Maroteaux, G. Malamut: L’acrodysostose. La presse médicale, Paris, 1968, 76: 2189-2192.
  1. 1.0 1.1 Levine MA (2012). "An update on the clinical and molecular characteristics of pseudohypoparathyroidism". Curr Opin Endocrinol Diabetes Obes. 19 (6): 443–51. doi:10.1097/MED.0b013e32835a255c. PMC 3679535. PMID 23076042.
  2. 2.0 2.1 Mantovani G (2011). "Clinical review: Pseudohypoparathyroidism: diagnosis and treatment". J. Clin. Endocrinol. Metab. 96 (10): 3020–30. doi:10.1210/jc.2011-1048. PMID 21816789.
  3. 3.0 3.1 Lee S, Mannstadt M, Guo J, Kim SM, Yi HS, Khatri A, Dean T, Okazaki M, Gardella TJ, Jüppner H (2015). "A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism". J. Bone Miner. Res. 30 (10): 1803–13. doi:10.1002/jbmr.2532. PMC 4580526. PMID 25891861.
  4. 4.0 4.1 Freitag JJ, Martin KJ, Conrades MB, Bellorin-Font E, Teitelbaum S, Klahr S, Slatopolsky E (1979). "Evidence for skeletal resistance to parathyroid hormone in magnesium deficiency. Studies in isolated perfused bone". J. Clin. Invest. 64 (5): 1238–44. doi:10.1172/JCI109578. PMC 371269. PMID 227929.
  5. Jahnen-Dechent W, Ketteler M (2012). "Magnesium basics". Clin Kidney J. 5 (Suppl 1): i3–i14. doi:10.1093/ndtplus/sfr163. PMC 4455825. PMID 26069819.


Template:WikiDoc Sources