short stature-valvular heart disease-characteristic facies syndrome
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.
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
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