Short stature-valvular heart disease-characteristic facies syndrome

Definition

Short stature-valvular heart disease-characteristic facies syndrome is characterised 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.

Disease data

Classification

Malformation syndrome

ORPHA code

2868

OMIM code

126190

ICD10 code

Q87.1

ICD11 code

*Soruce