MCID: PFF009
MIFTS: 21

Pfeiffer Syndrome Type 3 malady

Genetic diseases, Eye diseases, Bone diseases, Fetal diseases, Rare diseases categories

Summaries for Pfeiffer Syndrome Type 3

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34MalaCards
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MalaCards: Pfeiffer Syndrome Type 3, also known as acrocephalopolysyndactyly type iv, is related to craniosynostosis, and has symptoms including intestinal/gut/bowel malrotation, imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula and vesicorenal/vesicoureteral reflux. An important gene associated with Pfeiffer Syndrome Type 3 is FGFR2 (fibroblast growth factor receptor 2). Affiliated tissues include eye, lung and kidney.

Aliases & Classifications for Pfeiffer Syndrome Type 3

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50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Related Diseases for Pfeiffer Syndrome Type 3

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18GeneCards, 19GeneDecks
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Diseases in the Pfeiffer Syndrome Type 1 family:

Pfeiffer Syndrome Type 1, 2 and 3 pfeiffer syndrome type 3

Diseases related to Pfeiffer Syndrome Type 3 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1craniosynostosis10.2

Symptoms for Pfeiffer Syndrome Type 3

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50Orphanet
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Symptoms:

50 (show all 39)
  • intestinal/gut/bowel malrotation
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • vesicorenal/vesicoureteral reflux
  • choanal atresia
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • short foot/brachydactyly of toes
  • short hand/brachydactyly
  • high forehead
  • arnold-chiari anomaly
  • thumb hypoplasia/aplasia/absence
  • proptosis/exophthalmos
  • short big toe
  • tracheomalacia/tracheobronchomalacia
  • syndactyly of toes
  • external auditory canal atresia/stenosis/agenesis
  • turricephaly/oxycephaly/acrocephaly
  • ectopic/horseshoe/fused kidneys
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • mid-facial hypoplasia/short/small midface
  • stenosis of aqueduc of sylvius
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • high vaulted/narrow palate
  • autosomal dominant inheritance
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • syndactyly of fingers/interdigital palm
  • low set ears/posteriorly rotated ears
  • early death/lethality
  • depressed nasal bridge
  • hearing loss/hypoacusia/deafness
  • brachycephaly/flat occiput
  • laryngomalacia
  • visual loss/blindness/amblyopia
  • broad/bifid big toe
  • broad/bifid thumb
  • restricted joint mobility/joint stiffness/ankylosis
  • short/small nose
  • cranial hypertension
  • hypertelorism

Drugs & Therapeutics for Pfeiffer Syndrome Type 3

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Pfeiffer Syndrome Type 3

Drug clinical trials:

Search ClinicalTrials for Pfeiffer Syndrome Type 3

Search NIH Clinical Center for Pfeiffer Syndrome Type 3

Search CenterWatch for Pfeiffer Syndrome Type 3

Genetic Tests for Pfeiffer Syndrome Type 3

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Anatomical Context for Pfeiffer Syndrome Type 3

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34MalaCards
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MalaCards organs/tissues related to Pfeiffer Syndrome Type 3:

34
Eye, Lung, Kidney, Bone

Animal Models for Pfeiffer Syndrome Type 3 or affiliated genes

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Publications for Pfeiffer Syndrome Type 3

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53PubMed
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Articles related to Pfeiffer Syndrome Type 3:

idTitleAuthorsYear
1
Pfeiffer Syndrome Type 3, a rare and unusual Craniosynostosis: Case reports from Korle Bu Teaching Hospital, Accra,Ghana. (24122692)
2013
2
Craniofacial, limb, and abdominal anomalies in a distinct syndrome: relation to the spectrum of Pfeiffer syndrome type 3. (8456855)
1993
3
Natal molars in Pfeiffer syndrome type 3: a case report. (8110608)
1993

Variations for Pfeiffer Syndrome Type 3

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Expression for genes affiliated with Pfeiffer Syndrome Type 3

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pfeiffer Syndrome Type 3

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Pathways for genes affiliated with Pfeiffer Syndrome Type 3

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Compounds for genes affiliated with Pfeiffer Syndrome Type 3

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GO Terms for genes affiliated with Pfeiffer Syndrome Type 3

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Products for genes affiliated with Pfeiffer Syndrome Type 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pfeiffer Syndrome Type 3

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet