IllnessEnlarged Parietal Foramina, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Enlarged Parietal Foramina comprising 2 or altogether 4 curated genes according to the clinical signs

FP9239

Number of genes

4 Accredited laboratory test

Examined sequence length

2,1 kb (Core-/Core-canditate-Genes)
6,3 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

Diagnostic indications

NGS +

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
ALX4	1236	605420	NM_021926.4	AD
MSX2	804	123101	NM_002449.5	AD
TWIST1	609	601622	NM_000474.4	AD
ZSWIM6	3648	615951	NM_020928.2	AD

Synonyms

Alias: Catlin-marks
Alias: Cranium bifidum, hereditäres
Alias: Fenestrae parietales symmetricae
Alias: Foramina parietalia permagna
Alias: Foramina parietalia, symmetrische
Allelic: Frontonasal dysplasia 2 (ALX4)
Allelic: Neurodevelopment. disorder with movement abnorm., abnorm. gait, autistic features (ZSWIM6)
Allelic: Robinow-Sorauf syndrome (TWIST1)
Allelic: Saethre-Chotzen syndrome with/-out eyelid anomalies (TWIST1)
Allelic: Sweeney-Cox syndrome (TWIST1)
Acromelic frontonasal dysostosis (ZSWIM6)
Craniosynostosis 1 (TWIST1)
Craniosynostosis 2 (MSX2)
Craniosynostosis 5, susceptibility to (ALX4)
Parietal foramina 1 (MSX2)
Parietal foramina 2 (ALX4)
Parietal foramina with cleidocranial dysplasia (MSX2)
Potocki-Shaffer syndrome (haploinsufficiency 11p12-p11.2 including ALX4 + EXT2 [+ PHF21A])

Heredity, heredity patterns etc.

OMIM-Ps

ICD10 Code

No text defined