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Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome (HCDPH1, also known as Sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus, Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus, Braddock-Jones-Superneau syndrome, or simply Hydrocephalus, autosomal dominant) is an autosomal dominant syndrome characterized by sagittal craniosynostosis ...
Scaphocephaly or sagittal craniosynostosis is a type of cephalic disorder which occurs when there is a premature fusion of the sagittal suture. Premature closure results in limited lateral expansion of the skull , resulting in a characteristic long, narrow head. [ 1 ]
It is estimated that craniosynostosis affects 1 in 1,800 to 3,000 live births worldwide. [3] three out of every four cases affect males. Sagittal synostosis is the most common phenotype, representing 40% to 55% of nonsyndromic cases, [3] whilst coronal synostosis represents between 20% and 25% of cases. [3]
Craniosynostosis, Philadelphia type: Sagittal Dolichocephaly Variable sagittal craniosynostosis penetrance. [64] Craniosynostosis-anal anomalies-porokeratosis syndrome: Coronal, sagittal Brachycephaly [65] Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome: Sagittal Dolichocephaly [66] Craniosynostosis-fibular aplasia syndrome [67]
Craniosynostosis, Philadelphia type is a rare autosomal dominant syndrome characterized by sagittal craniosynostosis (scaphocephaly) and soft tissue syndactyly of the hands and feet. This condition is considered a form of acrocephalosyndactyly. [1] [2] [3]
The calvaria is made up of the superior portions of the frontal bone, occipital bone, and parietal bones. [1] In the human skull, the sutures between the bones normally remain flexible during the first few years of postnatal development, and fontanelles are palpable. Premature complete ossification of these sutures is called craniosynostosis.
Cardiocranial syndrome, Pfeiffer type is a rare multiple disorder syndrome characterized by congenital heart defects, sagittal craniosynostosis, and severe developmental delay. The condition has been reported in less than 10 patients worldwide. [1] [2] [3] [4]
Craniosynostosis and dental anomalies (CRSDA, also known as Kreiborg-Pakistani syndrome) is an autosomal recessive syndrome characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies. Dental anomalies seen in this condition include malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth.