IllnessJackson-Weiss syndrome

Request form illness

Summary

Short information

A curated panel containing 3 genes for the comprehensive analysis of the suspected Jackson-Weiss syndrome

JP0010

Number of genes

3 Accredited laboratory test

Examined sequence length

7,4 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

[Sanger]

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
FGFR1	2469	136350	NM_023110.3	AD
FGFR2	2466	176943	NM_000141.5	AD
FGFR3	2421	134934	NM_000142.5	AD

Informations about the disease

Clinical Comment

Foot malformations (tarsal + metatarsal fusions; short, broad, medially deviated great toes), in some patients craniosynostosis with facial anomalies. Hands are normal in affecteds

Synonyms

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 or without anosmia (FGFR1)
Allelic: LADD syndrome (FGFR2, FGFR3)
Allelic: Muenke syndrome (FGFR3)
Allelic: Naevus, epidermal, somatic (FGFR3)
Allelic: Osteoglophonic dysplasia (FGFR1)
Allelic: Pfeiffer syndrome (FGFR1, FGFR2)
Allelic: Saethre-Chotzen syndrome (FGFR2)
Allelic: Scaphocephaly and Axenfeld-Rieger anomaly (FGFR2)
Allelic: Scaphocephaly, maxillary retrusion, and mental retardation (FGFR2)
Allelic: Spermatocytic seminoma, somatic (FGFR3)
Allelic: Thanatophoric dysplasia, type I, II (FGFR3)
Allelic: Trigonocephaly 1 (FGFR1)
Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome (FGFR1, FGFR2)
Jackson-Weiss syndrome (FGFR1, FGFR2 [FGFR3])

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined