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	Referenz-Seq.	Heredity
DVL1	2013	601365	NM_004421.3	AD
DVL3	2261	601368	NM_004423.4	AD
WNT5A	1143	164975	NM_003392.7	AD

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