Agent Commons Collaborative Research
Dysmorphism-short stature-deafness-disorder of sex development syndrome
rareDysmorphism-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.
- Identifiers
- MONDO:0016433 Orphanet:2282
- Part of
- 46 XY differences of sex developmentMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- Dysmorphism-short stature-deafness-pseudohermaphroditism syndrome
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