Weill-Marchesani Syndrome

Last update 08 May 2025

Basic Info

Synonyms

Brachydactyly-spherophakia syndrome, Brachymorphy with spherophakia syndrome, Congenital Mesodermal Dysmorphodystrophies

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Introduction

Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen.

100 Clinical Results associated with Weill-Marchesani Syndrome

100 Translational Medicine associated with Weill-Marchesani Syndrome

0 Patents (Medical) associated with Weill-Marchesani Syndrome

348

Literatures (Medical) associated with Weill-Marchesani Syndrome

01 Mar 2025·Osteoporosis International

Focal dermal hypoplasia: a probable underrecognized low bone mass disorder secondary to aberrant Wnt signaling

Article

Author: Patiño-Salazar, Juan David ; Ovejero, Diana ; Rabionet, Raquel ; Nogués, Xavier ; Garcia-Giralt, Natalia

A 29-year-old Spanish Caucasian man, without relevant family history, was attended in our unit due to an undiagnosed skeletal dysplasia associated with low bone mass and several fragility fractures throughout his childhood and adolescence. DXA exams throughout his life showed very low BMD values; currently, his spinal and femoral neck T-scores were - 4.3 and - 3.5, respectively. Blood and urinary tests were normal. Other relevant features included right hand and foot syndactyly, aplasia cutis, right hemibody hypoplasia, vertebral malformations, abnormal-looking humerii, and Asperger's syndrome among others. Whole exome sequencing retrieved a highly probable pathogenic variant in the PORCN gene p.(Arg296Pro) in mosaicism. PORCN mutations cause focal dermal hypoplasia (FDH), an X-linked ultra-rare ecto-mesodermal disorder characterized by several of the findings the patient presented. However, low BMD has not been classically associated with the disease. Noteworthy, PORCN is key for canonical Wnt signaling. Literature scrutiny has yielded other cases of FDH with skeletal fragility during childhood. In addition, preclinical studies with PORCN inhibitors, currently under development as an antitumoral therapy, have shown rapid detrimental effects on bone mass. Collectively, these findings indicate that FDH is probably an underrecognized monogenic cause of low bone mass due to defective Wnt signaling.

01 Nov 2024·Archivos de la Sociedad Española de Oftalmología (English Edition)

Suture dehiscence in patients with connective tissue disease: Marfan and Weill-Marchesani syndromes

Article

Author: Herrera Pereiro, J. ; Muñoz Sanz, N. ; Platas Moreno, I ; Herrera Pereiro, J ; Sandoval Cortés, B. ; Jiménez-Alfaro Morote, I ; Jiménez-Alfaro Morote, I. ; Sandoval Cortés, B ; Platas Moreno, I. ; Muñoz Sanz, N ; Valentín-Pastrana Aguilar, M M ; Valentín-Pastrana Aguilar, M. de las M.

Marfan and Weill-Marchesani syndromes have a mutation of the fibrillin gene (FBN1), producing alteration of connective tissue, within ophthalmology, it is important to take into consideration this type of diseases in cogenetic alterations in this system will produce modifications at the level of the ocular structures generating problems of various types, Most of the literature refers to ectopia lentis and the complications derived from it, as secondary glaucoma. We present two patients, one with Marfan syndrome and the other with Weill-Marchesani syndrome, who developed lens dislocation, typical of their pathologies, which led them to undergo different surgeries. Both developed suture dehiscence after these surgeries, as a complication derived from their connective tissue involvement. We thus highlight the need for vigilance and extreme caution in the postoperative period of patients affected by this type of syndromes.

15 Sep 2024·Cureus

Fibrillin-1 Gene Variant p.Gly1754Ser Associated With Weill-Marchesani Syndrome Type 2: A Case Report

Article

Author: Mane, Shailaja V ; Menon, Pramila ; Tamhankar, Parag M ; Muthu Kumar, Aarthi

Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by severe short stature, small hands and feet, joint stiffness, eye abnormalities such as microspherophakia, ectopia of lenses, severe myopia, glaucoma, and heart defects. This case study describes a nine-year-old female child with WMS syndrome type 2 and heterozygous pathogenic variant p.Gly1754Ser in the fibrillin-1 gene, identified on whole exome sequencing. Two individuals with WMS with the p.Gly1754Ser variant have been previously reported in the medical literature. The present case is the fourteenth case of WMS type 2 with fibrillin-1 gene mutation in the medical literature, to the best of the author's knowledge.

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Weill-Marchesani Syndrome

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