Pfeiffer Syndrome (PS)

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OMIM 57 101600 Disease Ontology 12 DOID:14705 DOID:8568 MeSH 44 D000168 D007244 NCIt 50 C99100 C34726 SNOMED-CT 68 70410008 154359004 186667007 186668002 186670006 187460007 26851006 271558008 314131007 more ICD10 33 B27 B27.0 B27.9 ICD9CM 35 075 Orphanet 59 ORPHA710 ORPHA93260 ORPHA93259 ORPHA93258 more

ICD10 via Orphanet 34 Q87.0 UMLS via Orphanet 74 C0220658 C0265303 C2931888 MESH via Orphanet 45 C538582 MedGen 42 C0220658 C1863356 KEGG 37 H01756 SNOMED-CT via HPO 69 263681008 197811007 41729002 43064006 63567004 87979003 262016004 27272007 230745008 13649004 48069004 109504005 22810007 194021007 22006008 15253005 103276001 15188001 343087000 95828007 95515009 300127002 301061006 249321001 306963008 204508009 95427009 128602000 22066006 246800008 11934000 18265008 7973008 387742006 12351004 699222000 43476002 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 224958001 48334007 52781008 38086007 32113001 204712000 204731006 230145002 267036007 271825005 253184003 271719001 253789002 29980002 48641006 95434006 54203008 205329008 202307002 249310005 249710008 61960001 237836003 249769001 268251006 34048007 274147008 249773003 299032009 more UMLS 73 C0220658 C0021345 C2931888

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)

MalaCards based summary : Pfeiffer Syndrome, also known as infectious mononucleosis, is related to crouzon syndrome and achondroplasia, and has symptoms including fever and pruritus. An important gene associated with Pfeiffer Syndrome is FGFR1 (Fibroblast Growth Factor Receptor 1), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Docetaxel and Antimitotic Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and testes, and related phenotypes are malar flattening and hypertelorism

UniProtKB/Swiss-Prot : ⁷⁵ Pfeiffer syndrome: 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).

NIH Rare Diseases : ⁵³ 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 mutations in the FGFR1 or FGFR2 genes and is inherited in an autosomal dominant manner. Pfeiffer syndrome is divided into 3 subtypes (type 1, type 2 and type 3) based on the presence and severity of specific features. Management typically includes various surgical interventions.

MedlinePlus : ⁴³ 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.

CDC : ³  

Genetics Home Reference : ²⁵ 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.

Disease Ontology : ¹² An acrocephalosyndactylia that has material basis in mutations in the FGFR1 and FGFR2 gene which results in premature fusion located in skull.

Wikipedia : ⁷⁶ Pfeiffer syndrome is a very rare genetic disorder characterized by the premature fusion of certain bones... more...

Clinical features from OMIM:

101600

Search NIH Clinical Center for Pfeiffer Syndrome

Search GEO for disease gene expression data for Pfeiffer Syndrome.