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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, 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 ...
Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the skull (craniosynostosis), which affects the shape of the head and face. The syndrome includes abnormalities of the hands and feet, such as wide and deviated thumbs and big toes.
Acrocephalosyndactyly presents in numerous different subtypes, however, considerable overlap in symptoms occurs. Generally, all forms of acrocephalosyndactyly are characterized by atypical craniofacial, hand, and foot characteristics, such as premature closure of the fibrous joints in between certain bones of the skull, [16] [17] fusion of certain fingers or toes, [16] [18] and/or more than ...
The big toes may also be missing or improperly positioned. Additionally, the bones in the skull close too early in development (craniosynostosis), and bones at the skull base grow incorrectly. [1] Woon et al. first reported the condition in 1980 in a pair of male twins of Mexican American and Sioux Indian ancestry with no chromosomal ...
Muenke syndrome, also known as FGFR3-related craniosynostosis, [1] is a human specific condition characterized by the premature closure of certain bones of the skull during development, which affects the shape of the head and face. First described by Maximilian Muenke, the syndrome occurs in about 1 in 30,000 newborns.
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 ]
craniosynostosis – an abnormal fusion of two or more cranial bones; radioulnar synostosis – the abnormal fusion of the radius and ulna bones of the forearm; tarsal coalition – a failure to separately form all seven bones of the tarsus (the hind part of the foot) resulting in an amalgamation of two bones; and