Marden-Walker syndrome (MWKS)

What is Marden-Walker syndrome (MWKS)?

This rare genetic disease presents with psychomotor retardation. One of the defining features of the syndrome is a mask-like face.

This rare connective disorder is present at birth, and affects males more than females.

This syndrome is also known as:

What gene changes cause Marden-Walker syndrome (MWKS)?

The gene responsible for causing syndrome is the PIEZO2 gene. It is inherited in an autosomal recessive pattern.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Marden-Walker syndrome (MWKS)?

The main symptoms include psychomotor retardation, affecting the development of an affected individuals social, emotional and physical skills- specifically their gross motor.

The unique facial features associated with the syndrome include a mask-like face with underdeveloped eyelids that can not open properly, a small jaw as well as a high-arced or in some instances a cleft palate.

In some individuals the symptoms include Dandy-Walker malformation which is a brain condition that often leads to a buildup of fluid in the brain and abnormalities related to the vertebral.

Possible clinical traits/features:
Congenital contracture, Agenesis of corpus callosum, Displacement of the urethral meatus, Dextrocardia, Limitation of joint mobility, Decreased muscle mass, Cryptorchidism, Dandy-Walker malformation, Arthrogryposis multiplex congenita, Fixed facial expression, Epicanthus, Ptosis, Camptodactyly of finger, Strabismus, Talipes equinovarus, Talipes, Pulmonary hypoplasia, Pyloric stenosis, Zollinger-Ellison syndrome, Ventricular septal defect, Situs inversus totalis, Radioulnar synostosis, Scoliosis, Primitive reflex, Renal hypoplasia/aplasia, Microcephaly, Camptodactyly, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Narrow mouth, Anteverted nares, Abnormal form of the vertebral bodies, Intellectual disability, Inguinal hernia, Intrauterine growth retardation, Muscular hypotonia, Multicystic kidney dysplasia, Micropenis, Micrognathia, Mask-like facies, Pectus excavatum, Microphthalmia, Joint contracture of the hand, Blepharophimosis, Attention deficit hyperactivity disorder

How does someone get tested for Marden-Walker syndrome (MWKS)?

The initial testing for Marden-Walker syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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