otopalatodigital syndrome spectrum disorder

Term ID

DOID:0111782

Synonyms

• fronto-otopalatodigital osteodysplasia
• OPD spectrum disorder
• OPSD

Definition

A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28. (3)

References

• ORDO:364541

Ontology

Human Disease   ( DOID:0111782 )