Craniometadiaphyseal dysplasia, wormian bone type

Orpha code: 85184OMIM code: 269300

Definition

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.

Disease data
Classification

Malformation syndrome

ORPHA code
85184
OMIM code
269300
ICD10 code
Q78.8
ICD11 code
-

No additional description.

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