otopalatodigital syndrome spectrum disorder
Findings
No curated finding names otopalatodigital syndrome spectrum disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.
Definition from the Mondo Disease Ontology (MONDO:0018233), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
2 names
Resolves to: otopalatodigital syndrome spectrum disorder
- Also called
- OPD spectrum disorderOPSD