short stature with microcephaly and distinctive facies — Definition

Mikrosefali ve belirgin yüz özellikleri ile kısa boy; this term defines a congenital or developmental disorder; the shortness of the neck in the affected individuals is small from the normal of the head environment (microrosefali) and pronounced, distinctive features (e.g., low ears, slit palates, eye anomalies). It can occur as part of genetic syndromes and often accompanied by neurological delay or mental insufficiency. It is subject to diagnosis, clinical examination, family history and genetic tests.

The Turkish equivalent of "short stature with microcephaly and distinctive facies" is Mikrosefali ve belirgin yüz özellikleri ile kısa boy.

This term belongs to the Diseases category.