cleidocranial dysplasia 2
A form of cleidocranial dysplasia caused by a variation in the CBFB gene, characterized by clavicular anomalies (varying from unilateral 'clavicle bipartita' to bilateral clavicular aplasia), dental anomalies (delayed or absent deciduous tooth eruption and supernumerary teeth), skull abnormalities (maxillary hypoplasia and delayed closure of fontanels), and additional bone anomalies (delayed bone age, reduced length of distal phalanges, and pseudoepiphyses of the metacarpals/metatarsals).
MONDO:0005516
osteochondrodysplasia
is_a
CBFB-related cleidocranial dysplasia
exact
CCD2
exact