Disease: Pfeiffer Syndrome

Name Pfeiffer Syndrome


Classification bone, developmental, eye, genetic

Phenotypes Arnold-Chiari malformation; Autosomal dominant inheritance; Brachyturricephaly; Broad hallux; Broad thumb; Bronchomalacia; Cartilaginous trachea; Choanal atresia; Choanal stenosis; Cloverleaf skull; Coronal craniosynostosis; Dental crowding; Depressed nasal bridge; Downslanted palpebral fissures; Elbow ankylosis; Finger syndactyly; High palate; Humeroradial synostosis; Hydrocephalus; Hypertelorism; Hypoplasia of the maxilla; Intellectual disability; Mandibular prognathia; Shallow orbits; Short middle phalanx of toe; Short nose; Shortening of all middle phalanges of the fingers; Strabismus

Associated Genes FGFR1 (Withdrawn symbols: BFGFR, CD331, CEK, FLG, FLT2, H2, H3, H4, H5, KAL2, N-SAM ) , FGFR2 (Withdrawn symbols: BEK, CD332, CEK3, CFD1, ECT1, JWS, K-SAM, KGFR, TK14, TK25 )

Mouse Orthologs Fgfr1 (Withdrawn symbols: AW208770, Eask, Fgfr-1, Flt-2, Hspy ) , Fgfr2 (Withdrawn symbols: AU043015, AW556123, Bek, Fgfr-2, Fgfr-7, Fgfr7, svs )

Source OMIM:101600 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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