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Children with Pfeiffer syndrome types 2 and 3 "have a higher risk for neurodevelopmental disorders and a reduced life expectancy" than children with Pfeiffer syndrome type 1, but if treated, favorable outcomes are possible. In severe cases, respiratory and neurological complications often lead to early death. History
Paternal age effect. The paternal age effect is the statistical relationship between the father's age at conception and biological effects on the child. [1] Such effects can relate to birthweight, congenital disorders, life expectancy and psychological outcomes. [2] A 2017 review found that while severe health effects are associated with higher ...
Beare–Stevenson cutis gyrata syndrome is a rare genetic disorder characterized by craniosynostosis (premature fusion of certain bones of the skull, sometimes resulting in a characteristic 'cloverleaf skull'; further growth of the skull is prevented, and therefore the shape of the head and face is abnormal) and a specific skin abnormality, called cutis gyrata, characterized by a furrowed and ...
Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Because the branchial arches are important developmental features in a growing embryo, disturbances in their development ...
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.
Kleeblattschaedel. 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 ...
Medical genetics. Osteopetrosis, literally "stone bone", also known as marble bone disease or Albers-Schönberg disease, is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to more prevalent conditions like osteoporosis, in which the bones become less dense and more brittle, or osteomalacia, in which ...
Causes. 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 ...
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.
Cardiocranial syndrome, Pfeiffer type. 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]