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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.
Currently, Noack syndrome (ACPS type I) is now classified as Pfeiffer syndrome (ACS type V); Goodman syndrome (ACPS type IV) is classified as a variation of Carpenter syndrome (ACPS type II); and different researchers have combined Apert (ASC type I), Crouzon (ASC type II), and Pfeiffer (ASC type V) syndrome into Apert-Crouzon and Crouzon ...
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.
Infectious mononucleosis ( IM, mono ), also known as glandular fever, is an infection usually caused by the Epstein–Barr virus (EBV). [2] [3] Most people are infected by the virus as children, when the disease produces few or no symptoms. [2] In young adults, the disease often results in fever, sore throat, enlarged lymph nodes in the neck ...
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).
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
EBV. The Epstein–Barr virus ( EBV ), formally called Human gammaherpesvirus 4, is one of the nine known human herpesvirus types in the herpes family, and is one of the most common viruses in humans. EBV is a double-stranded DNA virus. [2] Epstein–Barr virus (EBV) is the first identified oncogenic virus, which establishes permanent infection ...
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.
Crouzon syndrome: Widely spaced eyes, short-broad head, hearing loss, bulging eyes, beaked nose, low-set ears, strabismus, protruding chin, and short humerus and femur: FGFR2 & FGFR3: Pfeiffer syndrome: Widely spaced eyes, underdeveloped jaw, beaked nose, hearing loss, and bulging eyes: FGFR1 & FGFR2: Apert syndrome
Aarskog–Scott syndrome (AAS) is a rare disease inherited as X-linked and characterized by short stature, facial abnormalities, skeletal and genital anomalies. This condition mainly affects males, although females may have mild features of the syndrome.