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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessRobinow syndrome, AD/XLR; differential diagnosis


Short information

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

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
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications



Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity

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


  • 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
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined