Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Definition

A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD6 is characterized by metacarpal abnormalities with central polydactyly, cerebellar abnormalities including the molar tooth sign, tongue hamartomas, additional frenula, and upper lip notch.

Acronym

OFD6

Synonyms

OFDS VI
Oral-facial-digital syndrome, type VI
Oral-facial-digital syndrome 6
Orofaciodigital syndrome VI
Polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation
Varadi-PAPP syndrome
Varadi syndrome

Keywords

Ciliopathy

 
Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.

UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again