Familial osteodysplasia, Anderson type explained

Familial osteodysplasia, Anderson type
Types:	It is a type of osteodysplasia, and it doesn't have any subtypes itself.
Risk:	-->
Prevention:	None
Prognosis:	Good
Frequency:	very 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

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

Craniofacial

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

Skeletal

• Scoliosis
• Thinning of the calvaria
• Pointy spinous processes
• Clinodactyly
• Phalangeal dysplasia

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

Etimology

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]}

Notes and References

1. Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: Familial osteodysplasia, Anderson type . 2022-05-26 . www.orpha.net . en.
2. Web site: OMIM Entry - % 259250 - OSTEODYSPLASIA, FAMILIAL, ANDERSON TYPE . 2022-05-26 . omim.org . en-us.
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 . 10.1001/jama.1972.03200130021004 . 0098-7484.
4. Web site: Osteodysplasia familial Anderson type - About the Disease - Genetic and Rare Diseases Information Center . 2022-05-26 . rarediseases.info.nih.gov . en.
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 . 0098-7484 . 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 . 10.2214/ajr.116.3.602 . 0002-9580 . 4641184.