IllnessMyhre syndrome, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Myhre syndrome comprising altogether 8 curated genes according to the clinical signs
ID
MP4446
Number of genes
6
Accredited laboratory test
Examined sequence length
1,7 kb (Core-/Core-canditate-Genes)
24,9 kb (Extended panel: incl. additional genes)
24,9 kb (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
Synonyms
- Alias: Facial dysmorphism-intellectual disability-short stature-deafness syndrome
- Alias: Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome
- Alias: Laryngotracheal stenosis, Arthropathy, Prognathism, Short stature (LAPS) Syndrome
- Allelic: Acromicric dysplasia (FBN1)
- Allelic: Ectopia lentis, familial (FBN1)
- Allelic: Glaucoma 3, primary congenital, D (LTBP2)
- Allelic: Hereditary hemorrhagic telangiectasia (SMAD4)
- Allelic: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
- Allelic: MASS syndrome (FBN1)
- Allelic: Marfan lipodystrophy syndrome (FBN1)
- Allelic: Marfan syndrome (FBN1)
- Allelic: Microspherophakia and/or megalocornea, ectopia lentis, with/-out secondary glaucoma (LTBP2)
- Allelic: Pancreatic cancer, somatic (SMAD4)
- Allelic: Polyposis, juvenile intestinal (SMAD4)
- Allelic: Stiff skin syndrome (FBN1)
- Atelosteogenesis, type I (FLNB)
- Atelosteogenesis, type III (FLNB)
- Boomerang dysplasia (FLNB)
- Geleophysic dysplasia 1 (ADAMTSL2)
- Geleophysic dysplasia 2 (FBN1)
- Larsen syndrome (FLNB)
- Mulibrey nanism (TRIM37)
- Myhre syndrome (SMAD4)
- Spondylocarpotarsal synostosis syndrome (FLNB)
- Weill-Marchesani syndrome 1, AR (ADAMTS10)
- Weill-Marchesani syndrome 2, AD (FBN1)
- Weill-Marchesani syndrome 3, AR (LTBP2)
- Weill-Marchesani syndrome 4, AR (ADAMTS17)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined