Disease & disorder
dysmorphism-short stature-deafness-disorder of sex development syndrome
MONDO:0016433
Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.
Outbreak surveillance
Global reported eventsExplore recent public health notices potentially related to dysmorphism-short stature-deafness-disorder of sex development syndrome. Results are keyword matches, not yet verified disease-to-outbreak relationships.
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Background context
dysmorphism-short stature-deafness-disorder of sex development 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.