Spondyloepimetaphyseal dysplasia- Genevieve type
Overview
Spondyloepimetaphyseal dysplasia, genevieve type: A recessively inherited disorder characterized mainly by abnormal bone development (epiphyses, metaphyses and vertebrae) as well as mental retardation. The abnormalities become progressively worse with age.
Symptoms
* Mental retardation * Small head * Ataxia * Unusual facial appearance * Excessive hair growth on back * Excessive hair growth on legs * Coarse facial features * Low hairline at back of head * Low frontal hairline * Short head * Simple ears * Flat ears * Synophrys * Broad nose * Full lips * Everted lower lip * Flattened vertebrae * Irregular vertebral plates * Irregular metaphyses * Flared metaphyses * Vertical striations on metaphyses * Small epiphyses * Irregular epiphyses * Small wrist bones * Narrow hips * Lacy pelvis iliac crest
Causes
* Ataxia * Broad nose * Coarse facial features * Everted lower lip * Flattened vertebrae * Full lips * Mental retardation * Short head * Simple ears * Small head * Unusual facial appearance