Microcephaly, short stature, and limb abnormalities syndrome

What is Microcephaly, short stature, and limb abnormalities syndrome?

MISSLA is a rare disease which presents with intrauterine growth retardation (this affects the growth of the fetus before it is born), a small head, short stature and abnormalities affecting the limbs in particular.

What gene changes cause Microcephaly, short stature, and limb abnormalities syndrome?

The syndrome is caused by changes in the DONSON gene, which can be found on chromosome 21q22. Mutations in this gene can also cause a more severe form of the syndrome, which presents with micromelia.

It is inherited in an autosomal recessive pattern.

What are the main symptoms of Microcephaly, short stature, and limb abnormalities syndrome?

Global developmental delay, and mild intellectual disability are symptoms of the syndrome.

Limb anomalies include short fingers and toes (brachydactyly), a shortening of the lower parts of the limbs (mesomelia), and a permanent curving of the 5th finger of the hand (clinodactyly of the 5th finger).

Skeletal anomalies are also common with the symptom. These include delayed skeletal maturation and growth, rib abnormalities, a small head (microcephaly). A short stature is also common with the syndrome, as well as restricted growth before birth.

How does someone get tested for Microcephaly, short stature, and limb abnormalities syndrome?

The initial testing for Microcephaly, short stature, and limb abnormalities 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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