Anonychia associated with ectrodactyly syndrome: a case report

Area of Science:

• Genetics
• Developmental Biology
• Clinical Medicine

Background:

• Anonychia with ectrodactyly is a rare inherited autosomal dominant syndrome.
• This condition affects limb development, often presenting with nail absence and fused digits.
• Syndromic presentations can include a range of other congenital anomalies.

Observation:

• A case report of a two-month-old female infant is presented.
• The infant exhibited anonychia (absence of nails) and ectrodactyly (split hand/foot malformation).
• Microcephaly (abnormally small head) was also noted in the infant.

Findings:

• The presented case expands the known phenotypic spectrum of anonychia with ectrodactyly.
• This specific combination of anonychia, ectrodactyly, and microcephaly in an infant is rare.
• Autosomal dominant inheritance patterns are typical for this syndrome.

Implications:

• Further research into the genetic underpinnings of this syndrome is warranted.
• Understanding the full spectrum of this condition aids in accurate diagnosis and genetic counseling.
• Early identification of microcephaly in conjunction with limb anomalies is crucial for developmental monitoring.