Craniofacial Dyssynostosis With Short Stature
Description
Craniofacial dyssynostosis (CFD) is 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 (see this term), venous anomalies of skull and hydrocephalus.
Clinical Features
Top most frequent phenotypes and symptoms related to Craniofacial Dyssynostosis With Short Stature
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hypertelorism
- Nystagmus
- Micrognathia
- Strabismus
- Cryptorchidism
Incidence and onset information
— Not enough data available about incidence and published cases.
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Alternate names
Craniofacial Dyssynostosis With Short Stature Is also known as bilateral lambdoid and sagittal synostosis;blss;.
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