Familial osteodysplasia, Anderson type

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. Approximately 6 cases have been reported in medical literature. This disorder is thought to be inherited in an autosomal recessive manner.

Description

People with this disorder often show the following symptoms:

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.