Format

Send to:

Choose Destination
See comment in PubMed Commons below

Geleophysic Dysplasia.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2009 Sep 22 [updated 2012 Apr 19].

Excerpt

CLINICAL CHARACTERISTICS:

Geleophysic dysplasia, a progressive condition resembling a lysosomal storage disorder, is characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin. Intellect is normal. Major findings are likely to be present in the first year of life. Cardiac, respiratory, and lung involvement result in death before age five years in approximately 33% of individuals with geleophysic dysplasia 1.

DIAGNOSIS/TESTING:

Diagnosis is based on clinical and radiographic findings. The two genes known to be associated with geleophysic dysplasia are ADAMTSL2 (geleophysic dysplasia 1) and FBN1 (geleophysic dysplasia 2).

MANAGEMENT:

Treatment of manifestations: Regular physiotherapy to prevent joint limitation; cardiac valve replacement as needed; tracheostomy as required. Surveillance: Annual multidisciplinary examination to access height and range of motion of the joints; echocardiography for evidence of valvular stenosis and/or arterial narrowing; clinical assessment for evidence of tracheal stenosis and respiratory compromise; clinical assessment and ultrasound examination, if needed, to assess liver size.

GENETIC COUNSELING:

Two forms of geleophysic dysplasia have been recently described based on the underlying gene involved, with no obvious clinical differences. The first form is inherited in an autosomal recessive manner and is caused by mutations in ADAMTSL2. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. The second form of geleophysic dysplasia is inherited in an autosomal dominant manner and is caused by mutations in FBN1. Most individuals diagnosed with FBN1-related geleophysic dysplasia represent simplex cases (i.e., a single occurrence in a family). If a parent of the proband has an FBN1 mutation, the risk to the sibs of inheriting the mutation is 50%. If neither parent is affected, the empiric risk to sibs of a proband is approximately 1%-2%, most likely attributable to germline mosaicism. Carrier testing for relatives at risk for autosomal recessive geleophysic dysplasia and prenatal testing for pregnancies at increased risk for either form of the disorder are possible if the disease-causing mutation(s) in the family are known.

Copyright © 1993-2015, University of Washington, Seattle. All rights reserved.

PMID:
20301776
[PubMed]
Free Books & DocumentsFree full text
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Write to the Help Desk