This syndrome has characteristics of 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 tw
syndrome de petite taille-valvulopathie cardiaque-dysmorphie
SNOMEDCT-BE (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and tw / 716193004
SNOMEDCT-BE (disorder) / 716193004