IllnessRobinow syndrome, AD/XLR; differential diagnosis

Summary

Short information

A comprehensive differential diagnostic panel concerning the clinical suspicion autosomal dominant Robinow syndrome containing 3 and altogether 8 curated genes, respectively

RP0290

Number of genes

3 Accredited laboratory test

Examined sequence length

5,5 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Heredity
DVL1	2013	601365	AD
DVL3	2261	601368	AD
WNT5A	1143	164975	AD, AR

Informations about the disease

Clinical Comment

More common type of Robinow syndrome with mild to moderate limb shortening + abnormalities of the head, face + external genitalia

Synonyms

Alias: Acral dysostosis with facial and genital abnormalities
Alias: Aplasia, hypoplasia of phalanges/metacarpals/metatarsals
Alias: Fetal face syndrome
Alias: Robinow dwarfism
Allelic: CATSHL syndrome (FGFR3)
Allelic: Crouzon syndrome with acanthosis nigricans (FGFR3)
Allelic: Facial clefting, oblique, 1 (SPECC1L)
Allelic: Hypochondroplasia (FGFR3)
Allelic: LADD syndrome (FGFR3)
Allelic: Mental retardation, XL syndromic 16 (FGD1)
Allelic: Muenke syndrome (FGFR3)
Allelic: SADDAN (FGFR3)
Allelic: Teebi hypertelorism syndrome 1 (SPECC1L)
Allelic: Thanatophoric dysplasia, type I (FGFR3)
Allelic: Thanatophoric dysplasia, type II (FGFR3)
Aarskog-Scott syndrome (FGD1)
Achondroplasia (FGFR3)
Omodysplasia 2 (FZD2)
Opitz GBBB syndrome, type I (MID1)
Opitz GBBB syndrome, type II (SPECC1L)
Robinow syndrome, AD 1 (WNT5A)
Robinow syndrome, AD 2 (DVL1)
Robinow syndrome, AD 3 (DVL3)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Q87.1

Bioinformatics and clinical interpretation

No text defined