Parietal foramina with clavicular hypoplasia

Orpha code: 251290OMIM code: 168550

Definition

A rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.

Disease data
Classification

Malformation syndrome

Synonyms
Parietal foramina with cleidocranial dysplasia
Otwór ciemeniowy z dyzostozą obojczykowo-czaszkową
ORPHA code
251290
OMIM code
168550
ICD10 code
Q74.0
ICD11 code
-

No additional description.

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