craniometadiaphyseal dysplasia, wormian bone type
Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.
MONDO:0019703
obsolete primary bone dysplasia with increased bone density (obsolete MONDO:0019703)
excluded_subClassOf
MONDO:0018230
skeletal dysplasia
is_a
CRANIOMETADIAPHYSEAL dysplasia
related
CRMDD
related
Schwartz-Lelek syndrome
exact