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PS
MCID: PFF001
MIFTS: 78
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Pfeiffer Syndrome (PS)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Infectious diseases, Rare diseases
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MalaCards integrated aliases for Pfeiffer Syndrome:
Characteristics:Inheritance:
Pfeiffer Syndrome Type 3:
Autosomal dominant 58
Pfeiffer Syndrome Type 2:
Autosomal dominant 58
Pfeiffer Syndrome Type 1:
Autosomal dominant 58
Prevelance:
1-9/100000 (Europe) 58
Age Of Onset:
Pfeiffer Syndrome:
Antenatal,Neonatal 58
Pfeiffer Syndrome Type 3:
Antenatal,Neonatal 58
Pfeiffer Syndrome Type 2:
Antenatal,Neonatal 58
Pfeiffer Syndrome Type 1:
Antenatal,Neonatal 58
Age Of Death:
Pfeiffer Syndrome:
any age 58
Pfeiffer Syndrome Type 3:
early childhood,infantile 58
Pfeiffer Syndrome Type 2:
early childhood,infantile 58
OMIM®:57 (Updated 24-Oct-2022)
Miscellaneous:
de novo mutation in most cases 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 Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Infectious diseases Fetal diseases Anatomical: Eye diseases Bone diseases
ICD10:
31
32
ICD11:
33
Orphanet: 58
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis External Ids:
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MedlinePlus Genetics: 42 Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). 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.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.In people with Pfeiffer syndrome, the thumbs and first (big) toes are wide and bend away from the other digits. Unusually short fingers and toes (brachydactyly) are also common, and there may be some webbing or fusion between the digits (syndactyly).Pfeiffer syndrome is divided into three subtypes. Type 1, also known as classic Pfeiffer syndrome, has symptoms as described above. Most individuals with type 1 Pfeiffer syndrome have normal intelligence and a normal life span. Types 2 and 3 are more severe forms of Pfeiffer syndrome that often involve problems with the nervous system. The premature fusion of skull bones can limit brain growth, leading to delayed development and other neurological problems. In addition, individuals with type 2 or 3 can have fusion of the bones (ankylosis) in the elbow or other joints, limiting mobility, and abnormalities of the face and airways, which can cause life-threatening breathing problems. Type 2 is distinguished from type 3 by the presence of a cloverleaf-shaped head, which is caused by more extensive fusion of bones in the skull. MalaCards based summary: Pfeiffer Syndrome, also known as infectious mononucleosis, is related to lymphoproliferative syndrome, x-linked, 1 and human cytomegalovirus infection, and has symptoms including fever and pruritus. An important gene associated with Pfeiffer Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Valaciclovir and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include skull, bone and spleen, and related phenotypes are ptosis and high palate OMIM®: 57 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. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome. (101600) (Updated 24-Oct-2022) MedlinePlus: 41 Infectious mononucleosis, or "mono", is an infection usually caused by the Epstein-Barr virus. The virus spreads through saliva, which is why it's sometimes called "kissing disease." Mono occurs most often in teens and young adults. However, you can get it at any age. Symptoms of mono include: Fever Sore throat Swollen lymph glands Sometimes you may also have a swollen spleen. Serious problems are rare. A blood test can show if you have mono. Most people get better in two to four weeks. However, you may feel tired for a few months afterward. Treatment focuses on helping symptoms and includes medicines for pain and fever, warm salt water gargles and plenty of rest and fluids. GARD: 19 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. Other features may include broad and deviated thumbs and great toes; brachydactyly; and syndactyly. It is caused by genetic changes in the FGFR1 or FGFR2 genes and is inherited in an autosomal dominant manner. Disease Ontology 11 Pfeiffer syndrome: An acrocephalosyndactylia that has material basis in mutations in the FGFR1 and FGFR2 gene which results in premature fusion located in skull. Infectious mononucleosis: A viral infectious disease that results in inflammation, located in pharynx, has material basis in Human herpesvirus 4 and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly. UniProtKB/Swiss-Prot: 73 A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known: mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise, sporadic (type 3). Orphanet: 58 An acrocephalosyndactyly associated with craniosynostosis, midfacial hypoplasia, hand and foot malformation with a wide range of clinical expression and severity. Most of the affected patients show various other associated manifestations. Wikipedia 75 Pfeiffer syndrome: Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of... more... Infectious mononucleosis: Infectious mononucleosis (IM, mono), also known as glandular fever, is an infection usually caused by... more... |
Human phenotypes related to Pfeiffer Syndrome:58 30 (show top 50) (show all 80)
Symptoms via clinical synopsis from OMIM®:57 (Updated 24-Oct-2022)Clinical features from OMIM®:101600 (Updated 24-Oct-2022)UMLS symptoms related to Pfeiffer Syndrome:fever; pruritus GenomeRNAi Phenotypes related to Pfeiffer Syndrome according to GeneCards Suite gene sharing:25
MGI Mouse Phenotypes related to Pfeiffer Syndrome:45 (show all 19)
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Drugs for Pfeiffer Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 7)
Interventional clinical trials:
Cochrane evidence based reviews: infectious mononucleosis |
Organs/tissues related to Pfeiffer Syndrome:
MalaCards :
Bone,
Spleen,
Eye,
Liver,
Brain,
Trachea,
T Cells
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Articles related to Pfeiffer Syndrome:(show top 50) (show all 8494)
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- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Pfeiffer Syndrome:5 (show top 50) (show all 272)
UniProtKB/Swiss-Prot genetic disease variations for Pfeiffer Syndrome:73 (show all 19)
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Search
GEO
for disease gene expression data for Pfeiffer Syndrome.
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Pathways related to Pfeiffer Syndrome according to GeneCards Suite gene sharing:(show top 50) (show all 82)
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Cellular components related to Pfeiffer Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Pfeiffer Syndrome according to GeneCards Suite gene sharing:(show top 50) (show all 55)
Molecular functions related to Pfeiffer Syndrome according to GeneCards Suite gene sharing:
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