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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessPfeiffer syndrome 1-3

Summary

Short information

A curated panel containing 2 core candidate genes and altogether 3 genes for the comprehensive analysis of the suspected Pfeiffer syndrome 1-3

ID
PP0590
Number of genes
3 Accredited laboratory test
Examined sequence length
5,0 kb (Core-/Core-canditate-Genes)
7,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
FGFR12469NM_023110.3AD
FGFR22466NM_000141.5AD
FGFR32421NM_000142.5AD

Informations about the disease

Clinical Comment

Acrocephalosyndactyly with craniosynostosis, midfacial hypoplasia, hand + foot malformation, wide range of clinical expression/severity. Most affecteds show various other associated manifestations

DD: Apert syndrome, Beare-Stevenson syndrome, Crouzon syndrome, Isolated coronal synostosis; Jackson-Weiss syndrome (FGFR2 gene).

Craniofacial-skeletal-dermatologic dysplasia (FGFR2 gene).

Crouzon syndrome with acanthosis nigricans (FGFR3 gene).

Muenke syndrome (isolated coronal synostosis; p.Pro250Arg mutation in FGFR3).

 

Synonyms
  • Alias: Craniofacial-skeletal-dermatologic dysplasia
  • Allelic: Achondroplasia (FGFR3)
  • Allelic: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
  • Allelic: Apert syndrome (FGFR2)
  • Allelic: Beare-Stevenson cutis gyrata syndrome (FGFR2)
  • Allelic: Bent bone dysplasia syndrome (FGFR2)
  • Allelic: Bladder cancer, somatic (FGFR3)
  • Allelic: CATSHL syndrome (FGFR3)
  • Allelic: Cervical cancer, somatic (FGFR3)
  • Allelic: Colorectal cancer, somatic (FGFR3)
  • Allelic: Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
  • Allelic: Craniosynostosis, nonspecific (FGFR2)
  • Allelic: Crouzon syndrome (FGFR2)
  • Allelic: Crouzon syndrome with acanthosis nigricans (FGFR3)
  • Allelic: Encephalocraniocutaneous lipomatosis, somatic mosaic (FGFR1)
  • Allelic: Gastric cancer, somatic (FGFR2)
  • Allelic: Hartsfield syndrome (FGFR1)
  • Allelic: Hypochondroplasia (FGFR3)
  • Allelic: Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
  • Allelic: Jackson-Weiss syndrome (FGFR1)
  • Allelic: Jackson-Weiss syndrome (FGFR2)
  • Allelic: LADD syndrome (FGFR2)
  • Allelic: LADD syndrome (FGFR3)
  • Allelic: Muenke syndrome (FGFR3)
  • Allelic: Nevus, epidermal, somatic (FGFR3)
  • Allelic: Osteoglophonic dysplasia (FGFR1)
  • Allelic: SADDAN (FGFR3)
  • Allelic: Saethre-Chotzen syndrome (FGFR2)
  • Allelic: Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
  • Allelic: Scaphocephaly, maxillary retrusion + mental retardation (FGFR2)
  • Allelic: Spermatocytic seminoma, somatic (FGFR3)
  • Allelic: Thanatophoric dysplasia, type I (FGFR3)
  • Allelic: Thanatophoric dysplasia, type II (FGFR3)
  • Allelic: Trigonocephaly 1 (FGFR1)
  • Pfeiffer syndrome (FGFR1)
  • Pfeiffer syndrome (FGFR2)
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined