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oral-facial-digital syndrome

MeSH: D009958ORPHA: 140997

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Classification & Codes

Overview

genetic disease that is characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system and has material basis in X-linked inheritance of an OFD gene

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Classification & Codes

MeSH Code

D009958

Orphanet Code

ORPHA:140997
oral-facial-digital syndrome
MeSHD009958
OrphanetORPHA:140997
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO