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.

Also known as: disproportionate short stature with ptosis and valvular heart lesions

0 clinical trials for this condition and its sub-types, 0 tagged with Short stature-valvular heart disease-characteristic facies syndrome itself.

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Part of

↑ Multiple congenital anomalies/dysmorphic syndrome without intellectual disability (163)

Including sub-types (0) Tagged with Short stature-valvular heart disease-characteristic facies syndrome (0)

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