Leukodystrophy, Hypomymielinating, 10 (HLD10)

What is Leukodystrophy, Hypomielinating, 10 (HLD10)?

It is a recently identified genetic syndrome. Often also called hypomyelinating leukodystrophy type 10 with microcephaly this rare disorder has been identified mainly in families where the parents are related by blood. So far this has involved 11 families worldwide.

What gene changes cause Leukodystrophy, Hypomielinating, 10 (HLD10)?

Mutations in the PYCR2 gene are responsible for causing the syndrome.

The syndrome is inherited in an autosomal recessive pattern.

Up to 27 different genes with different mechanisms of inheritance and similar clinical characteristics have been described and should be considered as differential diagnoses.

What are the main symptoms of Leukodystrophy, Hypomielinating, 10 (HLD10)?

The primary symptoms of the syndrome are poor growth after birth and a reduced life expectancy, with most individuals affected by the condition not living past the age of ten.

Other symptoms include psychomotor disability that progresses and worsens with age, hyperkinetic movements, and low muscle tone.

Affected individuals have a small head and other unique facial features.

There is also some evidence of global brain atrophy in affected individuals.

How is it diagnosed?

To find out if someone has a diagnosis of Leukodystriphy, Hypomielinating, 10 (HLD10), it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

More syndromes

Syndromes & Disorders

Weiss-Kruszka syndrome (WSKA)

It is a multiple congenital anomaly syndrome that has been recently identified. There are just 24 potential cases currently reported worldwide. It is also known as Weiss-Kruska syndrome. The gene responsible for the disorder is the ZNF462 gene.

Read more
Syndromes & Disorders

Yunis-Varon syndrome (YVS)

It is a rare genetic disease that affects multiple systems of the body. Its main symptoms affect the skeletal and nervous systems, as well as ectodermal tissue (hair and teeth). Since 1980 just 25 cases from 19 families have been diagnosed and recorded. This syndrome is also known as: Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia

Read more
Syndromes & Disorders

Xia-Gibbs syndrome (XIGIS)

It is a rare genetic syndrome associated mainly with intellectual disability. This syndrome is also known as: Mental Retardation, Autosomal Dominant 25; Mrd25 Changes in the AHDC1 gene are responsible for causing the syndrome. It is inherited in an autosomal dominant pattern, although all cases of the syndrome recorded so far have been the result of de novo or new mutations in the gene. 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. In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

Read more