aniridia-ptosis-intellectual disability-familial obesity syndrome
MONDO:0015198
Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.
Outbreak surveillance
Global reported eventsExplore recent public health notices potentially related to aniridia-ptosis-intellectual disability-familial obesity syndrome. Results are keyword matches, not yet verified disease-to-outbreak relationships.
View aniridia-ptosis-intellectual disability-familial obesity syndrome on the outbreak map →aniridia-ptosis-intellectual disability-familial obesity syndrome
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.