syndroom van ichthyosis, kleine gestalte, brachydactylie en microsferofakie (aandoening)
syndroom van ichthyosis, kleine gestalte, brachydactylie en microsferofakie
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
15q26.3 microdeletion syndrome
A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia.
