anonychia congenita

Etiology

• congenital ectodermal disorder

Epidemiology

• rare
• < 20 cases identified (2014)

Genetics

• autosomal recessive
• associatedw tih mutations in the RSPO4 gene

Clinical manifestations

• complete absence (anonychia) or abnormally developed fingernails & toenails
• associated hair, teeth, or bone abnormalities are not common
• manifestations are variable

More general terms

• anonychia
• congenital anomaly (birth defect)
• genetic disease of the skin (genodermatosis)