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Incidence of Crouzon syndrome is currently estimated at 1.6 out of every 100,000 people. It is the most common craniostenosis syndrome. History. Crouzon syndrome was first described by Octave Crouzon in 1912. He noted the affected patients were a mother and her daughter, implying a genetic basis. [citation needed] See also
Trapezoidocephaly-synostosis syndrome, [1] Antley–Bixler syndrome has an autosomal recessive pattern of inheritance. Specialty. Medical genetics. 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 ...
Most persons with Pfeiffer syndrome type 1 have a normal intelligence and life span; types 2 and 3 typically cause neurodevelopmental disorders and early death. Later in life, surgery can help in bone formation and facial construction. Pfeiffer syndrome affects about 1 in 100,000 persons.
Prognosis. Generally normal life expectancy [6] Frequency. 1 in 50,000 people [5] Treacher Collins syndrome ( TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. [5] The degree to which a person is affected, however, may vary from mild to severe. [5]
People can generally live a relatively normal life with maxillary hypoplasia. Normal life expectancy. Recovery. The recovery time after the surgery depends on the extent of the surgery itself. Patients are usually advised to eat soft foods for days, or sometimes weeks, to allow their jaw time to heal.
Achondroplasia. Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. [3] It is the most common cause of dwarfism [4] and affects about 1 in 27,500 people. [3] In those with the condition, the arms and legs are short, while the torso is typically of normal length. [3]
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.
Specialty. Medical genetics. 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.
Based on symptoms and X-rays, confirmed by genetic testing: Differential diagnosis: Mandibuloacral dysplasia, pyknodysostosis, osteogenesis imperfecta, Hajdu-Cheney syndrome: Treatment: Supportive care: Prognosis: Normal life expectancy: Frequency: One per million people
Symptoms: Cervical spine fusion, scoliosis, spina bifida, heart defect, respiratory problems, other syndromic features: Usual onset: Congenital: Causes: Genetic mutations: Risk factors: Family history: Prognosis: Shorter life expectancy in some cases: Frequency: 1 in 40,000 to 42,000 births, females more affected than males