Zori Stalker Williams syndrome

Overview

A neonatal condition that is characterized by deformities of the head, chest and nails.

Symptoms

Symptoms may include (in order of frequency):

  • Cognitive Impairment
  • Short stature
  • Broad forehead
  • Macrocephaly
  • Depressed nasal bridge
  • Frontal bossing
  • Hypoplasia of the zygomatic bone
  • Hypoplastic toenails
  • Muscular hypotonia
  • Pectus excavatum

Causes

It is believed that the syndrome is inherited in an autosomal dominant pattern, though there has been no new research undertaken for this rare disease.

Diagnosis

NAIL ABNORMALITIES: DIAGNOSTIC WORKUP (Algorithmic Diagnosis of Symptoms and Signs) Focal abnormalities of one nail warrant a culture and sensitivity of any scrapings or exudates from the area, as well as an x-ray of the digit or extremity.

Resources

See Research Publications