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1.

Craniofacial dyssynostosis

A rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull, and hydrocephalus. [from ORDO]

MedGen UID:
347473
Concept ID:
C1857511
Disease or Syndrome
2.

Abnormal shape of the occiput

An abnormal shape of occiput. [from HPO]

MedGen UID:
869041
Concept ID:
C4023459
Anatomical Abnormality

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