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
ID
RP0290
Number of genes
3
Accredited laboratory test
Examined sequence length
5,5 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
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.
- AD
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q87.1
Bioinformatics and clinical interpretation
No text defined