Pfeiffer syndrome prognosis

Pfeiffer syndrome complications. Because Pfeiffer syndrome affects each child differently, complications may also vary. If left untreated, children with Pfeiffer syndrome may have some of the following issues: Increased pressure on the brain. A buildup of spinal fluid in the brain called hydrocephalus. Hearing impairment. Vision loss. Breathing problems Pfeiffer syndrome is a disorder that affects the development of the bones in the skull, hands and feet. Signs and symptoms can include craniosynostosis , which prevents normal skull growth and affects the shape of the head and face; distinctive facial features including bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose; hearing loss ; and dental problems Pfeiffer syndrome is a rare genetic disorder characterized by premature fusion of certain skull bones (craniosynostosis), and abnormally broad and medially deviated thumbs and great toes. Most affected individuals also have differences to their midface (protruding eyes) and conductive hearing loss Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of the skull which affects the shape of the head and face. In addition, the syndrome includes abnormalities of the hands and feet. Pfeiffer syndrome is caused by mutations in the fibroblast growth factor receptors FGFR1 and FGFR2. The syndrome is grouped into three types, type 1 being milder and caused by mutations in either gene and types 2 and 3 being more severe, often leading to. The prognosis of Pfeiffer's syndrome depends on the severity of the associated anomalies. Type I has in general a good prognosis and with proper treatment, most children have normal intelligence, good cosmetic outcomes and lead normal lives

Acrocephalosyndactylia; Apert Syndrome; Pfeiffer Syndrome

Pfeiffer Syndrome Diagnosis & Treatment UPMC Children's

Crouzon Syndrome (CS), Pfeiffer syndrome (PS) and the phenotypically related Jackson-Weiss (JW) variant are three craniosynostotic conditions caused by heterozygous mutations in Fibroblast Growth Factor Receptor (FGFR) genes. Screening a large cohort of 84 patients with clinical features of CS, PS o Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified Pfeiffer syndrome (PS) birth prevalence is 1/100,000. (hydrocephalus and seizures) resulting in a poorer prognosis. Other complications include brain development disorders, exposure keratopathy, exorbitism, bilateral and symmetrical hearing loss, airway obstruction, and obstructive sleep apnea. Type 2,. Pfeiffer syndrome is a rare genetic condition that causes premature fusion of the bones of the skull of a baby while in its mother's womb. The early fusion causes deformities of the head and face. There are three subtypes of Pfeiffer syndrome and all affect appearance, but types 2 and 3 cause more problems, including brain and nervous system issues and developmental delays Many of the characteristic facial features of Pfeiffer syndrome result from premature fusion of the skull bones. 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

Síndrome de Apert | Cura NaturalApert Syndrome - YouTube

What is Pfeiffer syndrome? Pfeiffer syndrome is a genetic disorder characterized by early fusion of the bones of the skull (craniosynostosis). This in turn leads to abnormalities of the head and face. The disease is present at birth, and symptoms can persist and worsen as a person ages. Pfeiffer syndrome was first described in 1964 by Dr. Rudolph Arthur Pfeiffer Definition: The Pfeiffer syndrome is characterized by bilateral coronal craniosynostosis, midface hypoplasia and syndactyly of hands and feet, and enlarged thumbs congenital. It was originally described in eight persons from three generations by Pfeiffer in 1964. It is divided in three clinical subtypes, with diagnostic and prognostic implications

Pfeiffer syndrome signs and symptoms can include the premature fusion of certain skull bones (craniosynostosis), which prevents the skull from growing normally and affects the shape of the head and face; distinctive facial features including bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose; hearing loss; and dental problems Pfeiffer syndrome also affects bones in the hands and feet.\n\nMany of the characteristic facial features of Pfeiffer syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose Pfeiffer syndrome (also known as type V acrocephalosyndactyly) is characterized by skull and limb abnormalities. Epidemiology It affects about 1 in 100,000 births Clinical presentation craniosynostosis hypertelorism proptosis maxillary hyp.. Pfeiffer syndrome (PS, OMIM #101600) is an inherited craniofacial disorder that is associated with primary craniosynostosis, midface hypoplasia, broad thumbs and great toes, and soft tissue syndactyly of hands (usually second and third digits) and feet of varying severity Pfeiffer syndrome is a genetic condition that is present from birth. In this condition, various complications result from premature skull fusion. Symptoms include bulging eyes, an unusually shaped.

Type 2 pfeiffer syndrome includes a cloverleaf-shaped skull (Kleeblattschädel) due to extensive fusion of bones, as well as severe proptosis. This type occurs sporadically (i.e., does not appear to be inherited) and has a poor prognosis and severe neurological compromise, generally with early death. Causes: Pfeiffer syndrome is most commonly. Definition. Pfeiffer syndrome is one of a group of disorders defined by premature closure of the sutures of the skull, resulting in an abnormal skull shape. People affected with these conditions, known as craniosynostosis syndromes, may also have differences in facial structure and hand and foot abnormalities

Pfeiffer syndrome Genetic and Rare Diseases Information

Pfeiffer syndrome is a complex genetic disorder in which certain bones in the skull fuse (join together) early in their development. This prevents the skull from growing normally, affecting the shape of the head and face and sometimes causing increased pressure around the brain. Pfeiffer syndrome also affects the hands and feet Pfeiffer syndrome is complex and involves several parts of your child's face, head, and limbs. Because Pfeiffer syndrome involves the skull and face, it can also affect your child's hearing, feeding, speech, and dental functions. Your child may require several treatments and surgeries to repair these anomalies

Pfeiffer Syndrome - NORD (National Organization for Rare

  1. Pfeiffer syndrome is a rare genetic disorder in the Western and types 2 and 3 are more common and they are associated with more severe signs and complications with a more unfavorable prognosis
  2. Pfeiffer syndrome Pfeiffer syndrome is a disorder that involves craniosynostosis - premature fusion of the fibrous joints of the bones in the skull, and the shape of the hands and feet. Pfeiffer syndrome happens when there is a mutation of either the FGFR1 of FGFR2 genes. These genes provide instructions for making proteins known a
  3. Pfeiffer syndrome: abnormalities of the skull, hands, and feet wide-set, bulging eyes, an underdeveloped upper jaw, beaked nose.Saethre-Chotzen syndrome: short or broad head. the eyes may be spaced wide apart and have palpebral ptosis (droopy eyelids), and fingers maybe abnormally short and webbed
  4. ent forehead (turribrachycephaly), an underdeveloped upper jaw (maxillary hypoplasia), and a beaked nose
  5. 3 Pfeiffer syndrome. As expected in Pfeiffer syndrome, he had global developmental delay, which corresponded to the develop-mental age of 12 months at the age of 2 years. FGFR gene study was not performed due to financial constraint. FGFR-related craniosynostosis syndromes, such as Apert syndrome, Crouzon syndrome and Pfeiffer syndrome caus
  6. Pfeiffer syndrome is a rare genetic form of craniosynostosis — the early closing of one or more of the soft, fibrous seams (sutures) between the skull bones. Pfeiffer is pronounced FY-fer. The syndrome affects how your baby's head, face, hands and feet look and work. Having fused skull bones may increase pressure on your baby's growing brain
  7. World map of Pfeiffer Syndrome. Find people with Pfeiffer Syndrome through the map. Connect with them and share experiences. Join the Pfeiffer Syndrome community. View map
Pfeiffer syndrome: GoFundMe page for 9mo about to undergo

Pfeiffer syndrome - Wikipedi

The prognosis is also quite poor for people who have Pancoast Syndrome along with Horner syndrome. Pancoast Syndrome is a treatable condition but there is always a chance of recurrence. [3] In conclusion, Pancoast Syndrome is the name given to a tumor that develops at the top of the lungs. It is also known by the name of superior sulcus tumor Pfeiffer syndrome (PS) is a rare autosomal dominant con-. genital disorder, originally described by Pfeiffer in 1964, and is characterized by an acrocephalic skull, regressed mid-. face. Pfeiffer syndrome is a complex genetic disorder that affects your child's head, face, hands, and feet. Clinical features vary for different children and range from mild to severe. Pfeiffer syndrome may include: Craniosynostosis: Premature (early) closure of growth plates of the skull that changes the shape of the head and can put increased.

Craniosynostosis & Pfeiffer Syndrome: Surgery, Treatment

  1. Le syndrome de Pfeiffer est une craniosynostose en rapport avec une mutation du gène FGPR.Cette mutation du gène FGPR est responsable d'autres craniosynostose regroupées sous le nom de craniosynostose FGPR dépendante.Les sutures du crâne qui fusionnent dans cette maladie sont les sutures coronales avec parfois sagittales.Le syndrome de Pfeiffer comprend différents types en fonction du.
  2. Overall prognosis for patients with Turner syndrome is good. Even with growth hormone therapy, most individuals are shorter than average.{ref25} Turner syndrome is not a cause of mental.
  3. Editorial. Pfeiffer syndrome is a rare genetic disorder characterized by premature fusion of certain skull bones and other birth defects in the hands and feet. The abnormality of the skull bones causes changes in the shape of the face and head. Most affected individuals also have differences to their midface and conductive hearing loss
  4. Pfeiffer Syndrome is a rare genetic disorder that affects the shapes of the face and head of patients. This article discusses Pfeiffer Syndrome symptoms with pictures, it's causes and treatment options. Pfeiffer Syndrome is characterized by the premature fusion of certain bones of the skull, that results an abnormal shape of face and head
  5. ante y puede estar causado por dos tipos de mutaciones, la que afecta al gen FGFR1 situado en el cromosoma 8 o la del gen FGFR2 en el cromosoma 10.. Cuadro clínico. El síndrome de Pfeiffer pertenece al grupo de enfermedades llamadas acrocefalosindactilias y se caracteriza por anomalías en el desarrollo del.

Pfeiffer syndrome update, clinical subtypes, and

The prenatal diagnosis of Pfeiffer syndrome Type II was suspected. Due to the poor prognosis the patient opted for J. Matecha1 , R. Vlk1 , B. Prosova2 , M. Černý3 termination of pregnancy Pfeiffer syndrome is considered a rare autosomal dominantly inherited disorder. At this time there are no known ways to prevent this genetic disorder from developing. Diagnosis. In order to diagnosis Pfeiffer syndrome it will usually take a team of orthopedists, ophthalmologists, and medical geneticists to make the diagnosis MELAS syndrome is not restricted with the above mentioned clinical presentations, but neuropsychiatric dysfunctions, seizures attack, hearing loss, endocrinopathies, cardiac disease, diabetes mellitus, exercise intolerance, vision loss are included prominent features 1,2

Pfeiffer Syndrome Type 1: A Case ReportCrouzon Syndrome: The Gentic Cause of the Skull Deformity

What Is Pfeiffer Syndrome? Symptoms, Causes, and Life

Discover short videos related to pfeiffer syndrome on TikTok. Watch popular content from the following creators: Natrenner(@natrenner), Becky F(@beckywthaguudhair), Rome Johnson(@romiejohns), Brooke(@flourishinglydifferent), In the Now(@inthenow) . Explore the latest videos from hashtags: #pfeiffersyndrome, #pfeiffersyndromeawareness, #sindromedepfeiffer, #pfieffersyndrome The acute immune-mediated polyneuropathies are classified under the eponym Guillain-Barré syndrome (GBS), after the authors of early descriptions of the disease. GBS is an acute monophasic paralyzing illness usually provoked by a preceding infection. The treatment and prognosis of GBS in adults will be discussed here

MISCELLANEOUS. - Three subtypes of Pfeiffer syndrome have been described - Type 1: 'mild' autosomal dominant. - Type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic. - Type 3: craniosynostosis, early demise, sporadic. - De novo mutation in most cases Apert Syndrome Prognosis Apert syndrome is a rare genetic disorder that causes abnormal development of the skull. Babies with Apert syndrome are born with a distorted shape of the head and face

Pfeiffer syndrome (MIM 101600) patients have craniosynostosis with broad thumbs and/or great toes that are medially deviated. Brachydactyly and variable degrees of syndactyly may occur. Pfeiffer syndrome has been divided into three subtypes. Type 1 is clinically the least severe and has the best prognosis Rett syndrome - biological pathways leading from MECP2 to disorder phenotypes Friederike Ehrhart1,2*, Susan L. M. Coort2, Elisa Cirillo2, Eric Smeets1, Chris T. Evelo1,2 and Leopold M. G. Curfs1 Abstract Rett syndrome (RTT) is a rare disease but still one of the most abundant causes for intellectual disability in females

Síndrome de Pfeiffer. Origem: Wikipédia, a enciclopédia livre. A síndrome de Pfeiffer é uma doença rara de origem genética que afeta aproximadamente uma criança a cada 100.000 nascimentos. Ela foi descrita por Rudolf Arthur Pfeiffer em 1964, que publicou o caso de uma família com vários membros afetados durante várias gerações Pfeiffer syndrome [fi´fer] a hereditary autosomal dominant disorder characterized by conical deformity of the head, extra fingers and toes, webbed fingers and toes, and broad short thumbs and big toes. Called also acrocephalosyndactyly type V and acrocephalopolysyndactyly type I. Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied.

TY - JOUR. T1 - Prognostic implications of mutation-specific QTc standard deviation in congenital long QT syndrome. AU - Mathias, Andrew. AU - Moss, Arthur J Pfeiffer syndrome is a birth defect that causes problems with bones in a baby's skull, face, fingers, and toes. This syndrome mainly causes the sutures (joints) between skull bones to grow together too early, which prevents the head and face from growing normally and affects their shape

The prognosis for most individuals with piriformis syndrome is good. Once symptoms of the disorder are addressed, individuals can usually resume their normal activities. In some cases, exercise regimens may need to be modified in order to reduce the likelihood of recurrence or worsening Pfeiffer syndrome is what's known as an autosomal dominant disorder, which means that either parent can pass the mutation onto their children. But what is intriguing is that the mother or father may have very little symptoms and still carry the gene, while the baby is more severely affected, says Dr. Cordero

MrDoctor.orgWhat is Pfeiffer Syndrome - Images, types ..

Since March is Pfeiffer Syndrome Awareness Month, I want to celebrate by educating as many people as I can about Pfeiffer syndrome to create acceptance for my son and all of the other people in the world with this rare syndrome. The main medical complication in people with Pfeiffer Syndrome is called craniosynostosis Pfeiffer syndrome (PS) is one of the classic autosomal dominant craniosynostosis syndromes with craniofacial anomalies and characteristic broad thumbs and big toes. We have previously mapped one.

Mutation screening in patients with syndromic

  1. Pfeiffer syndrome affects about 1 in 100,000 individuals. It was first described by Pfeiffer in 1964. The synostosis of the coronal suture causes a brachycephaly. Severe hypoplasia of the midface, hypertelorism are present. The patient with Pfeiffer's syndrome has a similar craniofacial deformity to that of the Apert's and Crouzon's.
  2. Prognostic Scoring Systems and Comorbidity Indexes in Myelodysplastic Syndrome: A Hospital-Based Study Selda Kahraman1*, Zeynep Guc2 and Mehmet Ali Ozcan3 1Department of Hematology, Medicana International Izmir Hospital, Izmir, Turkey 2Department of Internal Medicine, Division of Medical Oncology, Dokuz Eylul University, Izmir, Turke
  3. Prognosis in axonal Guillain-Barré syndrome A primary axonal form of Guillain-Barré syndrome was first described by Feasby and colleagues1 in 1986. Initial indications were that this had a worse prognosis than demyelinating forms of the disease and it was suggested that recovery might require axonal regeneration along the entire length of the nerve fibre
  4. Yu-Hung Wang, Hsin-An Hou, Chien-Chin Lin, Yuan-Yeh Kuo, Chi-Yuan Yao, Chia-Lung Hsu, Mei-Hsuan Tseng, Cheng-Hong Tsai, Yen-Ling Peng, Chein-Jun Kao, Wen-Chien Chou, Hwei-Fang Tien; A CIBERSORTx-based immune-cell scoring system could independently predict prognosis of myelodysplastic syndrome patients
  5. Pfeiffer Syndrome Treatment in Dallas, TX. Pfeiffer syndrome affects the skull, hands, and feet and requires an intensive treatment plan. The doctors at the International Craniofacial Institute provide total care for patients affected by this syndrome, in addition to love and support for their family members
  6. In a large 2003 US study by Mayes et al,{ref33} the survival rate from time of diagnosis was computed to be 77.9% at 5 years, 55.1% at 10 years, 37.4% at 15 years, and 26.8% at 20 years. The.
  7. Pfeiffer Syndrome: A Treatment Evaluation. From the Craniofacial Center, Medical City Children's Hospital, and the Division of Plastic and Reconstructive Surgery, Virginia Commonwealth University Medical Center, Virginia Commonwealth University Health System. Received for publication June 29, 2008; accepted October 15, 2008
9 best BWS Awareness images on Pinterest | Abdominal painCraniofacial Syndromes: Crouzon, Apert, Pfeiffer, Saethre

Pfeiffer syndrome - Conditions - GTR - NCB

  1. Article abstract— The authors reviewed the clinical features and outcome of Miller Fisher syndrome (MFS) for 50 consecutive patients with MFS including 28 patients who received no immunotherapy. Besides the characteristic clinical triad (ophthalmoplegia, ataxia, and areflexia), pupillary abnormalities, blepharoptosis, and facial palsy are frequent in MFS, whereas sensory loss is unusual.
  2. Pfeiffer syndrome is a rare genetic condition, with an average occurrence of one out of every 100,000 births . It is caused by a genetic mutation that results in the bones in the skull to fuse prematurely (craniosynostosis), unsual fingers, crowded teeth and facial changes. In severe Pfeiffer syndrome (Type 2 and 3) problems with the organs and.
  3. Pfeiffer syndrome is a genetic condition thought to occur once in every 100,000 people. There is a trajectory of severity with some children having barely perceptible markers for the syndrome while others are severely affected. If an individual who has the syndrome has children the child will have a 50% chance of being affected. Characteristics
  4. Pfeiffer syndrome occurs in one out of 100,000 babies. It is a clinical diagnosis, and a gene mutation can be found by testing for particular genetic mutations. If one parent has Pfeiffer syndrome, there is a 50 percent chance that his child will be born with the disorder
  5. Features of Pfeiffer's syndrome include: cloverleaf brain. proptosis and hyperteleorism. calvarial thinning with or without a pseudoencephalocele. small posterior fossa with cerebeller tonsilar herniation. bony spiculation. turcephaly - due to premature closure of the coronal, sagittal and lambdoid sutures
  6. A baby girl's battle to beat 1 in 100,000 rare disease Pfeiffer Syndrome. Just eight weeks before a young Northern Territory couple were due to give birth to their first child, they were told she.

Orphanet: Pfeiffer syndrom

Prognosis. Many patients with EDS live healthy, unaffected lives. Only vascular EDS (vEDS) is associated with a shortened lifespan. [42] Pepin M, Schwarze U, Superti-Furga A, et al. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type Objective . The prognostic value of the red cell distribution width (RDW) in patients with sepsis-induced acute respiratory distress syndrome (ARDS) is still elusive. This study is aimed at determining whether RDW is a prognostic indicator of sepsis-induced ARDS. Methods. This retrospective cohort study included 1161 patients with sepsis-induced ARDS Acute respiratory distress syndrome (ARDS) is a serious lung condition that causes low blood oxygen. People who develop ARDS are usually ill due to another disease or a major injury. In ARDS, fluid builds up inside the tiny air sacs of the lungs, and surfactant breaks down. Surfactant is a foamy substance that keeps the lungs fully expanded so.

Treacher Collins Syndrome: Evaluation and Treatment

Pfeiffer Syndrome: Symptoms, Causes, and Treatmen

Lofgren's syndrome portends a favorable prognosis 4). Lofgren syndrome consistently appears to be more common in females. It occurs most commonly in European Caucasians, especially patients with Scandinavian descent. Young to middle age adults are more likely to present with this disease with a median age of 37 years old Pfeiffer syndrome follows autosomal dominant inheritance pattern, which means that roughly half of the children of a patient with Pfeiffer syndrome can be expected to inherit the syndrome. In about 5% of cases, Pfeiffer syndrome is caused by a mutation in the FGFR-1 gene, causing these patients to have a milder appearance that looks more like that of children with Crouzon syndrome Prognosis. Longitudinal studies indicate that 17% to 64% of patients improve with treatment; however, less than 10% meet criteria for full recovery, and up to 20% of patients may worsen over time. [277] Vercoulen JH, Swanink CM, Fennis JF, et al. Prognosis in chronic fatigue syndrome: a prospective study of the natural course

Pfeiffer syndrome: MedlinePlus Genetic

De ziekte van Pfeiffer is een besmettelijke ziekte die wordt veroorzaakt door een virus. Het virus is van mens op mens overdraagbaar. De ziekteverschijnselen hangen sterk af van de leeftijd en zijn onder andere koorts, huiduitslag, keelontsteking en vermoeidheid. De meeste mensen hebben voor hun twintigste jaar een infectie met het virus doorgemaakt, in veel gevallen onopgemerkt The prognosis for Horner's syndrome in dogs is entirely depending on the cause. There is no specific treatment for Horner's syndrome, as it is just a collection of symptoms, not an actual disease itself. If the underlying cause is treatable, then the prognosis readies Sick sinus syndrome usually affects older adults, with an average age of 68 years; sick sinus syndrome affects one in every 600 cardiac patients 65 years or older. Causes include a development of scar tissue in the heart, heart disease or heart attacks, disorders in heart function or heart trauma, certain medications, toxins or abnormal electrolyte levels, and genetic mutations Prognosis: Most people experience improvement after getting surgery, but full recovery is not guaranteed. When to a doctor for tarsal tunnel syndrome Treatment for tarsal tunnel syndrome is more likely to be effective if it is started early on, so you should seek medical care before the symptoms become severe

What is Pfeiffer syndrome? Nicklaus Children's Hospita

Moebius syndrome prognosis. There is no cure for Moebius syndrome. In spite of the impairments that characterize the disorder, proper care and treatment give many individuals a normal life expectancy 8).. Moebius syndrome life expectanc Pfeiffer syndrome is a rare genetic condition affecting primarily the skull and facial bones. It leads to craniosynostosis and underdevelopment of the facial bones. Studies have shown it occurs in approximately one in 100,000 births. Cause of Pfeiffer Syndrome. Pfeiffer syndrome is caused by gene mutations Pfeiffer Syndrome adalah mutasi genetik yang sangat langka yang memengaruhi sekitar 1 dari 100.000 kelahiran. Kondisi ini terjadi secara spontan. Dengan kata lain, kondisi tersebut bukan disebabkan oleh orangtua atau gen mereka. Dokter mengklasifikasi Sindrom Pfeiffer berdasarkan segi keparahannya (b) A, Apert syndrome; C, Crouzon syndrome; P, Pfeiffer syndrome; U, unclassified. Rapid detection of FGFR mutations in syndromic craniosynostosis by temporal temperature gradient gel electrophoresis The final episode sees her moving into her own place, but in the meantime, we also meet Kayleigh, 22, a sufferer of Pfeiffer syndrome whose bones have fused as they've grown Cauda equina syndrome (CES) occurs when there is dysfunction of multiple lumbar and sacral nerve roots of the cauda equina. Causes. CES most commonly results from a massive herniated disc in the lumbar region

Pfeiffer syndrome - thefetus

Apryls Journey with Pfeiffer Syndrome. 1,756 likes · 1 talking about this. Personal Blo Korsakoff syndrome: disease course and prognosis. Korsakoff syndrome is a chronic disease that in most cases does not completely recur. After the administration of vitamin B1, the general condition improved significantly in about one in seven patients Synonyms for Pfeiffer syndrome in Free Thesaurus. Antonyms for Pfeiffer syndrome. 7 synonyms for syndrome: condition, complaint, illness, symptoms, disorder, ailment, affliction. What are synonyms for Pfeiffer syndrome Pfeiffer syndrome. acrocephalosyndactylia that has material basis in mutations in the FGFR1 and FGFR2 gene which results in premature fusion located in skull. Upload media. Wikipedia. Instance of. designated intractable/rare diseases Pfeiffer Syndrome Awareness. 126 likes. Hi my name is Ash i am 25 years old and i have Pfeiffer Syndrome. I am making this page to help others who have or know someone who has Pfeiffers Syndrome

Pfeiffer syndrome causes, signs, symptoms, diagnosis

Obstetrical prognosis is less good, with more miscarriages, hypertensive disorders, gestational diabetes and premature E delivery. Moreover, the most worrying complications are cardio-vascular, because potentially CC life-threatening. Indeed, Turner syndrome is associated with congenital heart defects in 30 to 50 % of cases