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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 ...
Acrocephalosyndactyly. Acrocephalosyndactyly is a group of congenital conditions characterized by irregular features of the face and skull ( craniosynostosis) and hands and feet ( syndactyly ). [1] Craniosynostosis occurs when the cranial sutures, the fibrous tissue connecting the skull bones, fuse the cranial bones early in development.
Rhombencephalosynapsis is a rare brain disorder of malformation of the cerebellum that may be detected on ultrasound of the fetus. The vermis is either absent or partially formed. There is dorsal fusion of the cerebellar hemispheres, fusion of the dentate nuclei, and fusion of the middle cerebellar peduncles. [1]
The life expectancy in some states has fallen in recent years; for example, Maine's life expectancy in 2010 was 79.1 years, and in 2018 it was 78.7 years. The Washington Post noted in November 2018 that overall life expectancy in the United States was declining although in 2018 life expectancy had a slight increase of 0.1 and bringing it to ...
Genetic mutations. Congenital insensitivity to pain with anhidrosis ( CIPA) is a rare autosomal recessive disorder of the nervous system which prevents the feeling of pain or temperature and prevents a person from sweating. Cognitive disorders are commonly coincidental. CIPA is the fourth type of hereditary sensory and autonomic neuropathy ...
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.
9q34 deletion syndrome is a rare genetic disorder. Terminal deletions of chromosome 9q 34 have been associated with childhood hypotonia, a distinctive facial appearance and developmental disability. The facial features typically described include arched eyebrows, small head circumference, midface hypoplasia, prominent jaw and a pouting lower lip.
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. Signs and symptoms. Features of this condition include: Abnormal heart morphology
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]
Jansen's metaphyseal chondrodysplasia ( JMC) is a disease that results from ligand -independent activation of the type 1 ( PTH1R) of the parathyroid hormone receptor, due to one of three reported mutations (activating mutation). JMC is extremely rare, and as of 2007 there are fewer than 20 reported cases worldwide.
