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Children born with craniosynostosis have a distinct phenotype, i.e., appearance—observable traits caused by the expression of a condition's genes. The features of craniosynostosis' particular phenotype are determined by which suture is closed. [7] The fusion of this suture causes a certain change in the shape of the skull; a deformity of the ...
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 .
The signs and symptoms of Muenke syndrome vary among affected people, and some findings overlap with those seen in other craniosynostosis syndromes. Between 6 percent and 7 percent of people with the gene mutation associated with Muenke syndrome do not have any of the characteristic features of the disorder. [citation needed]
Craniosynostosis, a condition in which the sutures of the head (joints between the bones of the skull) prematurely fuse and subsequently alter the shape of the head, is seen in multiple conditions, as listed below. The level of involvement varies by condition and can range from minor, single-suture craniosynostosis to major, multisutural ...
Craniosynostosis, Adelaide type (CRSA) is a syndrome characterized by cone-shaped epiphyses, phalangeal hypoplasia, and carpal bone malsegmentation along with craniosynostosis. [ 1 ] [ 2 ] [ 3 ] Signs and symptoms
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 ...
Jackson–Weiss syndrome (JWS) is a genetic disorder characterized by foot abnormalities and the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face.
Cranial sutures. A defining characteristic of Crouzon syndrome is craniosynostosis, which results in an abnormal head shape.This is present in combinations of: frontal bossing, trigonocephaly (fusion of the metopic suture), brachycephaly (fusion of the coronal suture), dolichocephaly (fusion of the sagittal suture), plagiocephaly (unilateral premature closure of lambdoid and coronal sutures ...