Oro-fazio-digital syndrome type i Q87.0

Papillon-Léage & Psaume, 1954

Incidences range from 1:50,000 to 1:250,000 live births.

Ätiopathogenetisch the OFD type I is counted to the ciliopathies. Cilia are thin, tubular extensions of the cell surface. They are used for locomotion and are involved in various cell biological signalling pathways. X-linked dominant or X-linked recessive inheritance of mutations (99 mutations are known) of the OFD-1 gene, which is mapped on the gene locus Xp22.2-p22.3 and leads to the expression of a non-functional OFD-1 protein. XY combinations are usually lethal. The OFD-1 gene seems to play an important role in the morphogenesis of certain body parts. The OFD-1 protein is ubiquitously expressed during embryonic development and postpartum. It is located at the base of the cilia and plays an important role in their development.

• Integument: Multiple milia appear in the facial region. These are rfeversible in the course of life.
• Further possible are brittle, thinning hair (hypotrichosis) and circumscribed alopecia. The hair growth disturbances remain openly absent for the whole life.
• Extracutaneous manifestations are: combination of facial and acral malformations with hyperplastic multiple frenula of the oral cavity, delayed tooth growth up to tooth aplasia, lobes and notches of the tongue, tongue fibromas and median cleft lip and palate. Hypoplasia of the nasal tip cartilage. Polydactyly, syndactyly and brachydactyly can also be pronounced.

Main symptoms:

• only female patients (OFD-1 type leads to death already intrauterine in male fetuses)
• Hypotrichosis
• Milia (facial skin)
• Brachydactyly
• Dysmorphia of the face (hypertelorism, asymmetry, widened nasal root)
• Mutation of the OFD-1 gene

Secondary symptoms:

• Tongue fibroids
• Frenula (hyperplastic, multiple)
• Dental aplasia
• Abnormalities of the CNS

1. Del C Boente M (1999) A mosaic pattern of alopecia in the oral-facial-digital syndrome type I (Papillon-Leage and psaume syndrome). Pediatr Dermatol 16: 367-370
2. Ferrante MI (2001) Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet 68: 569-576
3. Horlenko O et al (2018) ORAL-FACIAL-DIGITAL SYNDROME TYPE I (CLINICAL CASE). Georgian Med News 285)47-51
4. Jeskowiak A (2015) Hypotrichosis, milia, brachydactyly and frenula. JDDG 13: 934-936
5. Lindeboom JA et al (2003) Multiple recurrent and de novo odontogenic keratocysts associated with oral-facial-digital syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 95: 458-462
6. Papillon-Leage M, Psaume J (1954) Une maldeformation hereditaire de la muquese buccale: brides et freins anomaux. Rev Stomatol 55: 209-227