A neonatal condition that is characterized by deformities of the head, chest and nails.
Symptoms may include (in order of frequency):
- Cognitive Impairment
- Short stature
- Broad forehead
- Depressed nasal bridge
- Frontal bossing
- Hypoplasia of the zygomatic bone
- Hypoplastic toenails
- Muscular hypotonia
- Pectus excavatum
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.
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.
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