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)
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
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