MCID: PFF009
MIFTS: 21

Pfeiffer Syndrome Type 3 malady

Genetic diseases, Eye diseases, Bone diseases, Fetal diseases, Rare diseases categories
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Summaries for Pfeiffer Syndrome Type 3

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MalaCards based summary: Pfeiffer Syndrome Type 3 is related to pfeiffer syndrome and craniosynostosis, and has symptoms including turricephaly/oxycephaly/acrocephaly, brachycephaly/flat occiput and high forehead. An important gene associated with Pfeiffer Syndrome Type 3 is FGFR2 (fibroblast growth factor receptor 2). Affiliated tissues include eye, bone and kidney.

Aliases & Classifications for Pfeiffer Syndrome Type 3

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Sources:
48Orphanet, 26ICD10 via Orphanet
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Related Diseases for Pfeiffer Syndrome Type 3

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Diseases in the Pfeiffer Syndrome Type 1 family:

Pfeiffer Syndrome 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
1pfeiffer syndrome10.4
2craniosynostosis10.3

Symptoms for Pfeiffer Syndrome Type 3

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Symptoms:

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

HPO human phenotypes related to Pfeiffer Syndrome Type 3:

(show all 33)
id Description Frequency HPO Source Accession
1 malar flattening hallmark (90%) HP:0000272
2 hypertelorism hallmark (90%) HP:0000316
3 high forehead hallmark (90%) HP:0000348
4 atresia of the external auditory canal hallmark (90%) HP:0000413
5 proptosis hallmark (90%) HP:0000520
6 limitation of joint mobility hallmark (90%) HP:0001376
7 laryngomalacia hallmark (90%) HP:0001601
8 preaxial foot polydactyly hallmark (90%) HP:0001841
9 respiratory insufficiency hallmark (90%) HP:0002093
10 arnold-chiari malformation hallmark (90%) HP:0002308
11 aqueductal stenosis hallmark (90%) HP:0002410
12 abnormality of calvarial morphology hallmark (90%) HP:0002648
13 tracheomalacia hallmark (90%) HP:0002779
14 short nose hallmark (90%) HP:0003196
15 depressed nasal bridge hallmark (90%) HP:0005280
16 aplasia/hypoplasia of the thumb hallmark (90%) HP:0009601
17 abnormality of thumb phalanx hallmark (90%) HP:0009602
18 short hallux hallmark (90%) HP:0010109
19 low-set, posteriorly rotated ears typical (50%) HP:0000368
20 choanal atresia typical (50%) HP:0000453
21 brachydactyly syndrome typical (50%) HP:0001156
22 seizures typical (50%) HP:0001250
23 toe syndactyly typical (50%) HP:0001770
24 finger syndactyly typical (50%) HP:0006101
25 cognitive impairment typical (50%) HP:0100543
26 vesicoureteral reflux occasional (7.5%) HP:0000076
27 cleft palate occasional (7.5%) HP:0000175
28 hearing impairment occasional (7.5%) HP:0000365
29 visual impairment occasional (7.5%) HP:0000505
30 increased intracranial pressure occasional (7.5%) HP:0002516
31 intestinal malrotation occasional (7.5%) HP:0002566
32 abnormal localization of kidney occasional (7.5%) HP:0100542
33 urogenital fistula occasional (7.5%) HP:0100589

Drugs & Therapeutics for Pfeiffer Syndrome Type 3

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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

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Anatomical Context for Pfeiffer Syndrome Type 3

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MalaCards organs/tissues related to Pfeiffer Syndrome Type 3:

32
Eye, Bone, Kidney, Lung

Animal Models for Pfeiffer Syndrome Type 3 or affiliated genes

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Publications for Pfeiffer Syndrome Type 3

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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
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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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

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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

Sources for Pfeiffer Syndrome Type 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet