IllnessWeill-Marchesani syndrome 1-4, differential diagnosis

NGS +

[Sanger]

Weill-Marchesani syndrome is a hereditary disease of the connective tissue with lens anomalies, dwarfism, brachydactyly and stiff joints. Other eye problems such as microspherophakia, myopia, ectopia lentis are evident in childhood, and glaucoma can later lead to blindness. Adult men remain partly clearly under 170 cm body length, women (partly clearly) under 160 cm. The syndrome is inherited autosomal recessively (with complete penetrance) or autosomal dominant. Penetrance in dominant inheritance is incomplete, lowest for brachydactyly and gonioscopy with significantly varying expressivity. Mutations are most frequently found in the ADAMTS10 gene, very rarely in the ADAMTS17, LTBP5 or FBN1 genes. No concrete statements can be made on the diagnostic yield, especially since Marfan syndrome and metabolic diseases, among others, show overlapping symptoms.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1114/

• Short stature, microspherophakia +/- megalocornea, ectopia lent., +/- 2. glaucoma, brachydaktyly
• Allelic: Acromicric dysplasia (FBN1)
• Allelic: Dental anomalies + short stature (LTBP3)
• Allelic: Ectopia lentis, familial (FBN1)
• Allelic: Geleophysic dysplasia 2 (FBN1)
• Allelic: Glaucoma 3, primary congenital, D (LTBP2)
• Allelic: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
• Allelic: MASS syndrome (FBN1)
• Allelic: Marfan lipodystrophy syndrome (FBN1)
• Allelic: Marfan syndrome (FBN1)
• Allelic: Pancreatic cancer, somatic (SMAD4)
• Allelic: Polyposis, juvenile intestinal (SMAD4)
• Allelic: Stiff skin syndrome (FBN1)
• Ectopia lentis et pupillae (ADAMTSL4)
• Ectopia lentis, isolated, AR (ADAMTSL4)
• Geleophysic dysplasia (LTBP3)
• Geleophysic dysplasia 1 (ADAMTSL2)
• Homocystinuria, B6-responsive + nonresponsive types (CBS)
• Hyperlysinemia (AASS)
• Microspherophakia +/- megalocornea, with ectopia lentis + with/-out secondary glaucoma (LTBP2)
• Myhre syndrome (SMAD4)
• Sulfite oxidase deficiency (SUOX)
• Weill-Marchesani syndrome 1, AR (ADAMTS10)
• Weill-Marchesani syndrome 2, AD (FBN1)
• Weill-Marchesani syndrome 3, AR (LTBP2)
• Weill-Marchesani syndrome 4, AR (ADAMTS17)