Acromicric Dysplasia

Common Name(s)

Acromicric Dysplasia

Acromicric dysplasia is a rare type of skeletal dysplasia characterized by abnormal bone growth. Signs and symptoms include short stature, short hands and feet, mildly distinctive facial features, characteristic X-ray abnormalities of the hands, and other features that occasionally occur. Intelligence is normal.  It has recently been found to be caused by mutations in the FBN1 gene and is inherited in an autosomal dominant manner.  The prognosis for affected individuals is good; no major complications appear to occur in affected individuals and life expectancy is normal.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Acromicric Dysplasia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Acromicric Dysplasia" returned 3 free, full-text research articles on human participants. First 3 results:

Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment.
 

Author(s): Hyung Suk Jin, Ho Young Song, Sung Yoon Cho, Chang Seok Ki, Song Hyun Yang, Ok Hwa Kim, Su Jin Kim

Journal: Ann Lab Med. 2017 Jan;37(1):92-94.

 

Last Updated: 11 Nov 2016

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Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.
 

Author(s): L Faivre, M Le Merrer, C Baumann, M Polak, P Chatelain, V Sulmont, J Cousin, M Bost, M P Cordier, E Zackai, K Russell, G Finidori, J C Pouliquen, A Munnich, P Maroteaux, V Cormier-Daire

Journal: J. Med. Genet.. 2001 Nov;38(11):745-9.

 

Acromicric dysplasia is a rare bone dysplasia characterised by short stature, short hands and feet, normal intelligence, mild facial dysmorphism, and characteristic x ray abnormalities of the hands. Only a very small number of children with this condition have been reported so far. ...

Last Updated: 5 Nov 2001

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Moore-Federman syndrome and acromicric dysplasia: are they the same entity?
 

Author(s): R M Winter, M A Patton, J Challener, R F Mueller, M Baraitser

Journal: J. Med. Genet.. 1989 May;26(5):320-5.

 

Four unrelated patients are reported with short stature, stiffness of the joints, short fingers, inability to make a fist, and thickened skin on the forearms. Investigations have failed to show a lysosomal storage disorder and radiographs show non-specific changes with a delayed carpal ...

Last Updated: 27 Jul 1989

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Reviews from the PubMed Database

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The terms "Acromicric Dysplasia" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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