Pfeiffers syndrome can present along a range of mild to severe symptoms and is inherited autosomal dominant (50% genetic transmission). [ippcs.org]

For reasons of patient safety, we are hesitant to perform procedures that involve the posterior region, if supratentorial CEVs are present. [journals.lww.com]

Even after the choanal stenosis repair, he presented with recurrent bronchopneumonia. [casereports.bmj.com]

He presented a more severe optic atrophy and a complete loss of vision on the left eye, associated with a narrowing of the left optic canal in a subsequent CT scan (see figure B). [jns-journal.com]

Since no definitive etiology for his monocular visual loss was found, he presented to our Neurology Clinic for the first time. The left eye visual deficit was still present. Visual acuity was 20/100 OS and 20/16 OD. [raredisorders.imedpub.com]

• Broad Thumb

  Diagnosis Based on the clinical findings at birth or shortly thereafter (craniosynostosis with broad thumbs and great toes) and skull radiography showing premature coronal craniosynostosis. [accesspediatrics.mhmedical.com]

  Rudolf Pfeiffer first described a syndrome of acrocephalosyndactyly associated with hypertelorism, antimongoloid slant, broad thumbs, great toes, and normal intelligence in 1964. [ncbi.nlm.nih.gov]

  Pfeiffer’s syndrome presents with bicoronal synostosis, midface hypoplasia and broad thumbs and toes. The eyes may be proptotic (bulging) which can prevent eyelid closure and lead to blindness. [ippcs.org]

  Other characteristic features include broad thumbs and great toes, normal intelligence, and only mild soft-tissue syndactyly. Additional roentgen findings are presented and a differential diagnosis is discussed. [ajronline.org]

• Hearing Impairment

  Hearing impairment. Vision loss. Breathing problems. Developmental delays. Brain damage. Symptoms & Diagnosis Pfeiffer Syndrome Symptoms The symptoms of this syndrome include the following facial features: Eyes that are farther apart than usual. [chp.edu]

  Table 3. - Characteristics of the Patients with Pfeiffer Syndrome Patients Age (mo) Sex Respiratory Ocular Hearing Impairment Neurologic Motor/Speech Delay Pfeiffer Classification Tracheostomy OSA Strabismus Cornea Exposure Globe Herniation Hydrocephaly [journals.lww.com]

• Beaked Nose

  Abnormal growth of these bones leads to bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose. More than half of all children with Pfeiffer syndrome have hearing loss; dental problems are also common. [encyclopedia.pub]

  Abnormal growth of these bones leads to bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose. [malacards.org]

  This causes a crescent moon or sunken facial appearance with depressed nasal bridge and beak nose. Decreased growth of the central face can contribute to obstructive sleep apnea and airway concerns. [chop.edu]

The presence of hydrocephalus, supratentorial collateral emissary veins (CEVs), and stenosis of the superior sagittal sinus (SSS) were important factors that influenced decision-making and treatment workup.8 The distinction between ventriculomegaly and [journals.lww.com]

Treatment Treatment for Pfeiffer Syndrome Treatment for Pfeiffer syndrome is specific to your child's needs. Your child's surgeon will make a treatment plan focused on improving both function and appearance. [chp.edu]

Our world-renowned surgeons offer the most advanced treatments available. [childrenshospital.org]

To make sure it’s Pfeiffer and not something else, your doctor may also order: X-rays or imaging, like a CT scan, to check the skull Genetic tests (taking a blood or saliva sample to check for the gene glitch that causes it) Treatments Your child's treatment [webmd.com]

Orthodontic treatment-Orthodontic treatment for Pfeiffer syndrome may include dental braces to alleviate severe crowding of teeth as well as jaw surgery to correctly line up the lower face. [craniofacialteamtexas.com]

The literature addressing PS treatment is scarce, and algorithms using PVDO as the first-line treatment for patients with this condition. [journals.lww.com]

[…] and has poor prognosis. [radiopaedia.org]

Diagnosis and Prognosis: The diagnosis often requires a team approach consisting of medical geneticists, ophthalmologists, and orthopedists. [disorders.eyes.arizona.edu]

However, the visceral anomalies seen in the Antley-Bixler syndrome are usually genital.[7] Prognosis Type I PS has a relatively good prognosis for the intellectual outcome. [ncbi.nlm.nih.gov]

The prognosis depends mainly on the severity of the associated anomalies of central nervous and respiratory systems. [ai-online.info]

What is the prognosis for children with Pfeiffer Syndrome?? With aggressive medical attention, the prognosis for most children with this condition is positive. [nicklauschildrens.org]

Objectives: Identify the etiology of Pfeiffer syndrome. Describe the evaluation of Pfeiffer syndrome. Outline the treatment and management options available for Pfeiffer syndrome. [ncbi.nlm.nih.gov]

An etiologic and nosologic overview of craniosynostosis syndromes. Cohen MM Jr. Cohen MM Jr. Birth Defects Orig Artic Ser. 1975;11(2):137-89. Birth Defects Orig Artic Ser. 1975. PMID: 179637 Review. [pubmed.ncbi.nlm.nih.gov]

Etiology Mutations in the fibroblast growth factor receptor (FGFR) genes cause Pfeiffer syndrome: FGFR1 (on chromosome 8p11.2-p11) and FGFR2 (on chromosome 10q26) [4]. [ojrd.biomedcentral.com]

Since no definitive etiology for his monocular visual loss was found, he presented to our Neurology Clinic for the first time. The left eye visual deficit was still present. Visual acuity was 20/100 OS and 20/16 OD. [raredisorders.imedpub.com]

Epidemiology Pfeiffer syndrome affects about 1 in 100,000 individuals. Clinical description A craniosynostosis in association with short, broad thumbs and big toes are the major diagnostic clues for Pfeiffer syndrome. [ojrd.biomedcentral.com]

Epidemiology PS affects 1 in 100,000 neonates.[6] It is the second most common of the acrocephalosyndactyly syndromes, the most common being Apert syndrome.[7] Pathophysiology A cloverleaf skull usually results from premature closure of the coronal and [ncbi.nlm.nih.gov]

Pathophysiology The mutations in the FGFR-1 gene and sometimes the FGFR-2 gene result in premature maturation of fibroblast-derived cells and irregular bridging of the mesenchymal tissue that forms the bone. [accesspediatrics.mhmedical.com]

Epidemiology PS affects 1 in 100,000 neonates.[6] It is the second most common of the acrocephalosyndactyly syndromes, the most common being Apert syndrome.[7] Pathophysiology A cloverleaf skull usually results from premature closure of the coronal and [ncbi.nlm.nih.gov]

This fusion prevents the skull from growing normally and affects the shape of the head. Pfeiffer Syndrome also affects bones in the hands and feet and is associated with radiohumeral synostosis of the elbow. [paleyinstitute.org]

The eyes may be proptotic (bulging) which can prevent eyelid closure and lead to blindness. Pfeiffers syndrome can present along a range of mild to severe symptoms and is inherited autosomal dominant (50% genetic transmission). [ippcs.org]

Home Pfeiffer syndrome is a genetic disorder in which certain skull bones fuse early and prevent the skull from growing normally, which affects the shape of the head and face. [texaschildrens.org]

This prevents further growth of the skull, affects the shape of the head and face and may lead to increased intracranial pressures. Possible atresia of the external auditory canal will lead to conductive hearing loss. [ai-online.info]

This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet. 1. [encyclopedia.pub]