Fryns anophthalmia-plus syndrome: two rare cases

Area of Science:

• Genetics
• Developmental Biology
• Pediatric Medicine

Background:

• Fryns anophthalmia-plus syndrome (APS) is a rare genetic disorder characterized by significant congenital anomalies.
• Primary features include anophthalmia/microphthalmia, facial clefts (lip/palate), and craniofacial and ear deformities.

Observation:

• This report describes two distinct cases of APS presenting with overlapping features such as anophthalmia/microphthalmia, cleft palate, low-set ears, and ventriculomegaly.
• A significant observation in one case was an intestinal non-fixation anomaly, a previously undocumented manifestation in APS.

Findings:

• The study highlights the clinical diversity of Fryns anophthalmia-plus syndrome.
• The identification of an intestinal non-fixation anomaly in an APS case expands the known phenotypic spectrum of the syndrome.

Implications:

• These findings contribute to a better understanding of the genetic and developmental underpinnings of APS.
• Recognizing a broader range of anomalies associated with APS can improve diagnostic accuracy and clinical management for affected individuals.