geroderma osteodysplasticum
MONDO:0009271
Any developmental anomaly of metabolic origin caused by a variation in the GORAB gene. This condition is a segmental progeroid disorder characterized by lax, wrinkled skin; typical facial features including droopy cheeks, malar and mandibular hypoplasia, and a prematurely aged appearance; and severe osteoporosis leading to frequent fractures. Additional features may include joint hypermobility, short stature, and skeletal abnormalities and, rarely, developmental delay and intellectual disability.
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Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
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Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
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Gerodermia osteodysplastica
Gerodermia osteodysplastica (GO) is a rare autosomal recessive connective tissue disorder included in the spectrum of cutis laxa syndromes. This condition is inherited in an autosomal recessive pattern and leads to a range of skeletal abnormalities and skin changes. Usage of the name "Walt Disney dwarfism" is attributed to the first known case of the disorder, documented in a 1950 journal report, in which the authors described five affected members from a Swiss family as having the physical appearance of dwarves from a Walt Disney film. The terms "geroderma" or "gerodermia" can be used interchangeably with "osteodysplastica" or "osteodysplasticum", with the term "hereditaria" sometimes appearing at the end.
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.