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.

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.