Deutsch
IllnessLarsen syndrome, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Larsen syndrome comprising 6 core/core candidate genes and altogether 8 curated genes according to the clinical signs
ID
LP0090
Number of genes
6
Accredited laboratory test
Examined sequence length
14,7 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
Orofacial clefting with congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges, distinctive craniofacial abnormalities, including cleft palate
Synonyms
- Allelic: Cardiac valvular dysplasia, XL (FLNA)
- Allelic: Congenital short bowel syndrome (FLNA)
- Allelic: Heterotopia, periventricular, 1 (FLNA)
- Allelic: Intestinal pseudoobstruction, neuronal (FLNA)
- Atelosteogenesis, type I, III (FLNB)
- Boomerang dysplasia, included (FLNB)
- Chondrodysplasia with joint dislocations, GPAPP type (IMPAD1)
- Congenital disorder of glycosylation, type IId (B4GALT1)
- Desbuquois dysplasia 1 (SCAN1)
- Epiphyseal dysplasia, multiple, 7 (SCAN1)
- FG syndrome 2 (FLNA)
- Frontometaphyseal dysplasia 1 (FLNA)
- Joint laxity, short stature + myopia (GZF1)
- Larsen syndrome (FLNB)
- Melnick-Needles syndrome (FLNA)
- Otopalatodigital syndrome, type I (FLNA)
- Otopalatodigital syndrome, type II (FLNA)
- Spondylocarpotarsal synostosis syndrome (FLNB)
- Spondyloepiphyseal dysplasia with congenital joint dislocations (CHST3)
- Terminal osseous dysplasia (FLNA)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q74.8
Bioinformatics and clinical interpretation
No text defined