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Ophthalmomandibulomelic dysplasia (disorder)
Ophthalmomandibulomelic dysplasia
Pillay syndrome
OMM (ophthalmomandibulomelic) syndrome
Complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. Micrognathia, shortening and bowing of the forearm, ulnar deviation and bowed radius, short fibula, genu valgum and coxa vara have been reported. Intelligence is normal. The causative gene has not yet been identified. Autosomal dominant inheritance has been suggested.
oftalmomandibulomelische dysplasie
syndroom van Pillay
OMM-syndroom
Id715484003
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteLimb structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDystrophy
Finding siteCorneal structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified