Overview

Elejalde's syndrome


'Elejalde's syndrome' can also refer to...

 

More Like This

Show all results sharing this subject:

  • Medicine and Health

GO

Show Summary Details

Quick Reference

A disorder (acrocephalopolydactylous dysplasia) in which there is excessive birthweight, a swollen globular body with thick skin, apparently short limbs, polydactyly, acrocephaly, omphalocele, and abnormal facial features. It may be due to a defect in a fibroblast growth factor receptor gene. Elejalde's disease (neuroectodermal melanolysosomal disease) is distinct from Elejalde's syndrome and, like Griscelli syndrome type 1, is caused by mutation in the MYO5A gene that encodes myosin heavy chain 12 (myoxin).

Subjects: Medicine and Health.


Reference entries

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.