Disease & disorder
short stature-valvular heart disease-characteristic facies syndrome
MONDO:0007461
Short stature-valvular heart disease-characteristic facies syndrome is characterized by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.
Outbreak surveillance
Global reported eventsExplore recent public health notices potentially related to short stature-valvular heart disease-characteristic facies syndrome. Results are keyword matches, not yet verified disease-to-outbreak relationships.
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Background context
short stature-valvular heart disease-characteristic facies 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.