Lenz-Majewski Hyperostotic Dwarfism (LMHD)

What is Lenz-Majewski Hyperostotic Dwarfism (LMHD)?

This is an incredibly rare genetic condition with just 9 cases reported worldwide to date. The main identifying symptoms of the syndrome include dwarfism, a unique facial appearance, cutis laxa (sagging skin) and progressive bone sclerosis.

The syndrome is also characterized by intellectual disability, which is often quite severe.

What gene changes cause Lenz-Majewski Hyperostotic Dwarfism (LMHD)?

The PTDSS1 gene is responsible for causing the syndrome. It is inherited in an autosomal dominant pattern.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of Lenz-Majewski Hyperostotic Dwarfism (LMHD)?

The unique facial features of the syndrome include widely spaced eyes, large ears and a broad forehead. A large head and wide fontanelles are also common.

Moderate to severe intellectual disability is a feature of the syndrome in all identified patients.

Other common symptoms include an absent collarbone, abnormal tooth enamel, abnormality of the bones, and delayed bone maturation. Severe growth retardation is another symptom.

How does someone get tested for Lenz-Majewski Hyperostotic Dwarfism (LMHD)?

The initial testing for Lenz-Majewski Hyperostotic Dwarfism 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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