orofaciodigital syndrome XVIII

Term ID

DOID:0060961

Synonyms

• Oral-facial-digital syndrome type 18
• Oral-facial-digital syndrome with short stature and brachymesophalangy
• Orofaciodigital syndrome type 18

Definition

An orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that has_material_basis_in homozygous mutation in the IFT57 gene on chromosome 3q13. https://pubmed.ncbi.nlm.nih.gov/27060890/

References

• MIM:617927
• ORDO:508501

Ontology

Human Disease   ( DOID:0060961 )