Orofaciodigital syndrome

Synonyms: OFD

Material:

EDTA blood
(2-3 ml)

TAT:

3-6 weeks

Method:

NGS, CNV

Overview

Orofaciodigital syndromes represent a heterogeneous group of rare developmental disorders and belong to the ciliopathies. The subtypes generally follow an autosomal recessive inheritance pattern. The most common form, OFD type 1, however, is inherited in an X-linked manner. Approximately 75% of pathogenic changes occur sporadically.

Orofaciodigital syndrome

13 Gene(s)*

C2CD3

CPLANE1

DDX59

IFT57

INTU

KIAA0753

NEK1

OFD1

TCTN3

TMEM107

TMEM138

TMEM231

WDPCP

Clinical description

Frequency

Inheritance

Diagnosis

Differential diagnosis

References

Created by

Our editorial team consists of medical specialists and scientists in the field of human genetics. All content is created and reviewed in accordance with current scientific standards.

Last Update : 25.09.2026

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