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

Kawtar El Fid1,2, Meryem Soughi1,2, Chaimae Bouhamdi1,2

  • 1Deparment of Dermatology, Centre Hospitalier Universitaire Hassan II, Fez, Morocco.

Pediatric Dermatology
|April 20, 2026
PubMed

Insights

Congenital milia can be an early indicator of Oral-facial-digital syndrome type 1 (OFD1), an X-linked dominant ciliopathy. This case report details a child with OFD1, emphasizing milia as a key diagnostic sign.

Area of Science:

  • Genetics
  • Developmental Biology
  • Ciliopathies

Background:

  • Oral-facial-digital syndrome type 1 (OFD1) is a rare X-linked dominant ciliopathy.
  • It presents with characteristic facial, oral, and digital malformations, frequently involving neurological deficits.
  • Early identification is crucial for managing associated health issues.

Keywords:
brachydactylycleft palatecongenital miliahypotrichosisoral‐facial‐digital syndrome type 1

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