Global Information Lookup Global Information

Acromicric dysplasia information


Acromicric dysplasia
Other namesAcromicric skeletal dysplasia [1]

Acromicric dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation leading to short stature.[2] Most cases have occurred randomly for no apparent reason (sporadically). However, autosomal dominant inheritance has not been ruled out.

The disorder is different (but similar to) from other syndromic entities such as geleophysic dysplasia, Weill-Marchesani syndrome, and Myhre syndrome.[3]

  1. ^ "Acromicric dysplasia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 18 March 2019.
  2. ^ "OMIM Entry - # 102370 - ACROMICRIC DYSPLASIA; ACMICD". omim.org. Retrieved 2017-07-01.
  3. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Acromicric dysplasia". www.orpha.net. Retrieved 2022-09-22.{{cite web}}: CS1 maint: numeric names: authors list (link)

and 3 Related for: Acromicric dysplasia information

Request time (Page generated in 0.7436 seconds.)

Acromicric dysplasia

Last Update:

Acromicric dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation...

Word Count : 232

Martin Klebba

Last Update:

American actor and stunt performer. He has a form of dwarfism called acromicric dysplasia; he is 4 feet 1 inch (1.24 m). Klebba is best known for his role...

Word Count : 625

Stiff skin syndrome

Last Update:

Other conditions associated with mutations in this gene include acromicric dysplasia, Marfan syndrome and its variant Marfanoid–progeroid–lipodystrophy...

Word Count : 184

PDF Search Engine © AllGlobal.net