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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. Pfeiffer syndrome is caused by mutations in the fibroblast ...
Kleeblattschaedel is a rare malformation of the head where there is a protrusion of the skull and broadening of the face. [2] This condition is a severe type of craniosynostosis. [3] The condition can be both isolated or associated with other craniofacial dysostosises. [4] 85% of children with this condition have other anomalies. [5]
Antley–Bixler syndrome. Antley–Bixler syndrome has an autosomal recessive pattern of inheritance. Antley–Bixler syndrome is a rare, severe autosomal recessive [2] congenital disorder characterized by malformations and deformities affecting the majority of the skeleton and other areas of the body. [citation needed]
Holden is one of 1 in 100,000 children born with a genetic disorder called Pfeiffer syndrome. It is associated with more than 25 mutations on one of two fibroblast growth factor receptor genes.
Aarskog–Scott syndrome ( AAS) is a rare disease inherited as X-linked and characterized by short stature, facial abnormalities, skeletal and genital anomalies. [2] This condition mainly affects males, although females may have mild features of the syndrome. [3] [4]
Carpenter syndrome. Carpenter syndrome, also called acrocephalopolysyndactyly type II, [1] is an extremely rare autosomal recessive [2] congenital disorder characterized by craniofacial malformations, obesity, syndactyly, and polydactyly. [2] Acrocephalopolysyndactyly is a variation of acrocephalosyndactyly that presents with polydactyly.
1960. Overall life expectancy: 69.7 Women: 73.1 Men: 66.6 By 1960, life expectancy numbers settled into a long-term pattern of slow but steady growth compared with more dramatic jumps at the ...
Marfan syndrome ( MFS) is a multi-systemic genetic disorder that affects the connective tissue. [6] [7] [1] Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. [1] They also typically have exceptionally flexible joints and abnormally curved spines. [1]