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Familial osteodysplasia, Anderson type

From Wikipedia, the free encyclopedia
Familial osteodysplasia, Anderson type
SpecialtyMedical genetics
TypesIt is a type of osteodysplasia, and it doesn't have any subtypes itself.
PreventionNone
PrognosisGood
Frequencyvery rare, only 6 cases have been reported in medical literature.

Familial osteodysplasia, Anderson type is a rare genetic disorder which is characterized by cranio-facial dysmorphisms and multiple skeletal anomalies. Hyperuricemia, hypertension and high erythrocyte sedimentation rates have also been reported.[1] Approximately 6 cases have been reported in medical literature.[2] This disorder is thought to be inherited in an autosomal recessive manner.[3]

Description

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People with this disorder often show the following symptoms:[4]

Craniofacial

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  • Underdevelopment of midface
  • Flat, broad nasal bridge
  • Thin, prognathic mandible
  • Pointy chin
  • Malocclusion
  • Underdeveloped teeth

Skeletal

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Additional symptoms include hyperuricemia, high erythrocyte sedimentation rates and hypertension.

Etimology

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This condition was first discovered in 1972 by L G Anderson et al. and J S Buchignani et al. described the case of 5 siblings and their dad, 4 out of the 5 siblings had recurrent mandibular fractures and cranio-facial dysmorphisms, such as prominent earlobes. These 4 siblings also had hyperuricemia and 3 out of those 4 siblings had hypertension. Their father had hyperuricemia and hypertension but was otherwise unaffected. The siblings were the result of consanguineous Irish parents.[5][6]

References

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  1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Familial osteodysplasia, Anderson type". www.orpha.net. Retrieved 2022-05-26.{{cite web}}: CS1 maint: numeric names: authors list (link)
  2. ^ "OMIM Entry - % 259250 - OSTEODYSPLASIA, FAMILIAL, ANDERSON TYPE". omim.org. Retrieved 2022-05-26.
  3. ^ Anderson, Larry G.; Cook, Albert J.; Coccaro, Peter J.; Coro, Carlos J.; Bosma, James F. (1972-06-26). "Familial Osteodysplasia". JAMA. 220 (13): 1687–1693. doi:10.1001/jama.1972.03200130021004. ISSN 0098-7484.
  4. ^ "Osteodysplasia familial Anderson type - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-26.
  5. ^ Anderson, L. G.; Cook, A. J.; Coccaro, P. J.; Coro, C. J.; Bosma, J. F. (1972-06-26). "Familial osteodysplasia". JAMA. 220 (13): 1687–1693. ISSN 0098-7484. PMID 5067603.
  6. ^ Buchignani, J. S.; Cook, A. J.; Anderson, L. G. (November 1972). "Roentgenographic findings in familial osteodysplasia". The American Journal of Roentgenology, Radium Therapy, and Nuclear Medicine. 116 (3): 602–608. doi:10.2214/ajr.116.3.602. ISSN 0002-9580. PMID 4641184.