Non-syndromic bilambdoid and sagittal craniosynostosis

Orpha code: 1516OMIM code: 218350

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
BLSS
Niesyndromiczna kraniosynostoza obejmująca oba szwy węgłowe i szew strzałkowy
Bilateral lambdoid and sagittal synostosis
Isolated sagittal and bilambdoid craniosynostosis
Non-syndromic sagittal and bilateral lambdoid synostosis
ORPHA code
1516
OMIM code
218350
ICD10 code
Q87.0
ICD11 code
-

No additional description.

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