A rare multiple congenital anomalies syndrome with characteristics of mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlax
syndrome cranio-facio-fronto-digital
SNOMEDCT-BE (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlax / 763320005
SNOMEDCT-BE (disorder) / 763320005