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geleophysic dysplasia
Pathology:
- lysosomal-like storage vacuoles in various tissuess
Genetics:
- associated with defects in FBN1 (autosomal dominant) (type 2)
Clinical manifestations:
- severe short stature
- short hands & feet
- joint limitations
- skin thickening
- characteristic facial features including
- a 'happy' face with full cheeks
- shortened nose
- hypertelorism
- long & flat philtrum
- thin upper lip
- progressive cardiac valvular thickening often leading to an early death
- toe walking
- tracheal stenosis
- respiratory insufficiency
Radiology:
- radiographs
- delayed bone age
- cone-shaped epiphyses
- shortened long tubular bones
- ovoid vertebral bodies
General
dysplasia
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 614185
References
OMIM :accession 614185