Klinische FragestellungMyhre-Syndrom, Differentialdiagnose

NGS +

• 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)