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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.
Abnormal fusion of the skull bones is characteristic of Crouzon syndrome. Surgery is typically used to prevent the closure of sutures of the skull from damaging the brain's development. Without surgery, blindness and intellectual disability are typical outcomes. Without treatment, Crouzon syndrome can cause hearing and vision loss, exposure ...
In young adults, the disease often results in fever, sore throat, enlarged lymph nodes in the neck, and fatigue. Most people recover in two to four weeks; however, feeling tired may last for months. The liver or spleen may also become swollen, and in less than one percent of cases splenic rupture may occur.
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.
Choanal atresia is diagnosed based on the inability to place a nasal catheter, and radiology results (particularly CT scans). Treatment involves maintaining an open airway, and may involve surgery to reopen the airway, potentially with a stent .
Muenke syndrome: coronal craniosynostosis (plagiocephaly and brachycephaly), short feet and palms, hearing impairment, hypertelorism, and proptosis. Pfeiffer syndrome: abnormalities of the skull, hands, and feet; wide-set, bulging eyes, an underdeveloped upper jaw, beaked nose.
Reconstructive surgery is usually required in order to increase cranial space, correct tear duct stenosis, and/or correct ptosis of the eyelids in order to prevent amblyopia (lazy eye). Midfacial surgery may also be required during early childhood to correct respiratory problems, dental malocclusion, and swallowing
Persistent Müllerian duct syndrome (PMDS), also known as persistent oviduct syndrome, is a congenital disorder related to male sexual development. PMDS usually affects phenotypically normal male individuals with the karyotype (46, XY) and is a form of pseudohermaphroditism.
A conductive hearing loss along with middle ear disease is most commonly seen in patients with Pfeiffer syndrome; although, there have been reports of mixed hearing loss as well. The hearing loss is most typically caused by stenosis or atresia of the auditory canal , middle ear hypoplasia and ossicular hypoplasia (Vallino-Napoli, 1996).
This mechanism is found in patients with Crouzon and Pfeiffer syndrome. The second, which is associated with Apert syndrome is a loss of specificity of the FGFR2 isoform, resulting in the receptor binding to FGFs that it does not normally bind.