IllnessFraser syndrome, differential diagnosis

Summary

Short information

A comprehensive panel comprising 3 or altogether 10 genes for the differenrential diagnosis of Fraser syndrome

FP9266

Number of genes

9 Accredited laboratory test

Examined sequence length

24,8 kb (Core-/Core-canditate-Genes)
31,3 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

Diagnostic indications

NGS +

Selected genes

Name	Exon Length (bp)	OMIM-G	Heredity
FRAS1	12039	607830	AR
FREM2	9510	608945	AR
GRIP1	3231	604597	AR
ALX1	981	601527	AR
ALX3	1032	606014	AR
ALX4	1236	605420	AR
EFNB1	1041	300035	XLD
MKS1	1680	609883	AR
TWIST2	483	607556	AD, AR

Synonyms

Alias: Cryptophthalmos syndrome
Alias: Cryptophthalmos with other malformations
Alias: Cryptophthalmos-syndactyly syndrome
Alias: Fraser-Francois syndrome
Alias: Meyer-Schwickerath syndrome
Alias: Ullrich-Feichtiger syndrome
Allelic: Barber-Say syndrome (TWIST2)
Allelic: Craniosynostosis 5, susceptibility to (ALX4)
Allelic: Focal facial dermal dysplasia 3, Setleis type (TWIST2)
Allelic: Optic nerve hypoplasia + abnormalities of the central nervous system (SOX2)
Allelic: Parietal foramina 2 (ALX4)
Ablepharon-macrostomia syndrome (TWIST2)
Craniofrontonasal dysplasia (EFNB1)
Cryptophthalmos, unilateral or bilateral, isolated (FREM2)
Fraser syndrome 1 (FRAS1)
Fraser syndrome 2 (FREM2)
Fraser syndrome 3 (GRIP1)
Frontonasal dysplasia 1 (ALX2)
Frontonasal dysplasia 2 (ALX4)
Frontonasal dysplasia 3 (ALX1)
Meckel syndrome 1 (MKS1)
Microphthalmia, syndromic 3 (SOX2)
Microphthalmia, syndromic 3 (TWIST2)

Heredity, heredity patterns etc.

OMIM-Ps

ICD10 Code

Q89.8

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