What question did this study set out to answer?

To describe a case of OFD1 with specific features and emphasize congenital milia as a diagnostic clue.

April 22, 2026

Congenital Milia With Alopecia and Multisystem Anomalies in Oral–Facial–Digital Syndrome Type 1

Key Points

To describe a case of OFD1 with specific features and emphasize congenital milia as a diagnostic clue.
Clinical examination of an 11-month-old girl with multiple anomalies.
Trichoscopy performed for hair assessment and analysis of milia.
Imaging studies to identify brain structure anomalies.
The presence of congenital milia correlated with the diagnosis of OFD1.
Observed trichoscopic features included pili torti and black dots.
Additional anomalies included craniofacial deformities and brain cysts.

Abstract

Oral-facial-digital syndrome type 1 (OFD1) is an X-linked dominant ciliopathy characterized by facial, oral, and digital anomalies, often with neurological involvement. We report an 11-month-old girl presenting with multiple congenital milia on the cheeks, forehead, and auricular helices, accompanied by sparse wiry hair, partial occipital alopecia, and trichoscopic features of pili torti and comma-shaped black dots. Additional findings included craniofacial and oral anomalies, brachydactyly, preaxial polydactyly type 1 (PPD1), and agenesis of the corpus callosum with intracerebral cysts. This case highlights the diagnostic significance of congenital milia as an early clue for recognizing OFD1.

Congenital Milia With Alopecia and Multisystem Anomalies in Oral–Facial–Digital Syndrome Type 1

Key Points

Abstract

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