MCID: PFF009
MIFTS: 21

Pfeiffer Syndrome Type 3 malady

Genetic diseases, Eye diseases, Bone diseases, Fetal diseases, Rare diseases categories
Download this MalaCard

Summaries for Pfeiffer Syndrome Type 3

About this section
Sources:
33MalaCards
See all sources

Fully expand this MalaCard
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

About this section
Sources:
49Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Related Diseases for Pfeiffer Syndrome Type 3

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
49Orphanet
See all sources


Symptoms:

49 (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

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Pfeiffer Syndrome Type 3

Search NIH Clinical Center for Pfeiffer Syndrome Type 3

Genetic Tests for Pfeiffer Syndrome Type 3

About this section

Anatomical Context for Pfeiffer Syndrome Type 3

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Pfeiffer Syndrome Type 3:

33
Eye, Lung, Kidney, Bone

Animal Models for Pfeiffer Syndrome Type 3 or affiliated genes

About this section

Publications for Pfeiffer Syndrome Type 3

About this section
Sources:
52PubMed
See all sources

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

About this section

Expression for genes affiliated with Pfeiffer Syndrome Type 3

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Pfeiffer Syndrome Type 3

Search GEO for disease gene expression data for Pfeiffer Syndrome Type 3.

Pathways for genes affiliated with Pfeiffer Syndrome Type 3

About this section

Compounds for genes affiliated with Pfeiffer Syndrome Type 3

About this section

GO Terms for genes affiliated with Pfeiffer Syndrome Type 3

About this section

Products for genes affiliated with Pfeiffer Syndrome Type 3

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pfeiffer Syndrome Type 3

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet