Familial osteodysplasia, Anderson type
| Familial osteodysplasia, Anderson type | |
|---|---|
| Specialty | Medical genetics |
| Types | It is a type of osteodysplasia, and it doesn't have any subtypes itself. |
| 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.
Etymology
This condition was first discovered in 1972 by L G Anderson et al. and J S Buchignani et al. They described the case of five siblings and their dad; four out of the five siblings had recurrent mandibular fractures and cranio-facial dysmorphisms, such as prominent earlobes. These four siblings also had hyperuricemia and three out of those four 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
- ^ 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) - ^ "OMIM Entry - % 259250 - OSTEODYSPLASIA, FAMILIAL, ANDERSON TYPE". omim.org. Retrieved 2022-05-26.
- ^ 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.
- ^ "Osteodysplasia familial Anderson type - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Archived from the original on January 24, 2017. Retrieved 2022-05-26.
- ^ 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.
- ^ 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.