Albinism-Microcephaly-Digital Anomalies syndrome

What is Albinism-Microcephaly-Digital Anomalies syndrome?

Albinism-Microcephaly-Digital Anomalies syndrome is a rare disease. It is also known as Microcephaly-albinism-digital Anomalies Syndrome.

The original article describing this condition is in Spanish, with a summary in English. A male is described with severe microcephaly (including a sloping forehead) and an oculo-cutaneous albinism. Both clinically and radiologically there was a distal deficiency of the fingers involving the terminal phalanges of fingers 1, 3 and 4 on the right hand and 1,3,4 and 5 on the other. There was, in addition, an agenesis of the distal end of the big toe of the right foot. It is stated that the patient's sister was similarly affected.

* This information is courtesy of the L M D.

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What gene changes cause Albinism-Microcephaly-Digital Anomalies syndrome?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Recessive - 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.

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 that occurs during the reproductive process.

OMIM Number - 203340 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:

What are the main symptoms of Albinism-Microcephaly-Digital Anomalies syndrome?

The typical symptoms of the syndrome are:
Short distal phalanx of finger, Generalized hypopigmentation, Cognitive impairment, Albinism, Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathia, Microcephaly, Ocular albinism

How does someone get tested for Albinism-Microcephaly-Digital Anomalies syndrome?

The initial testing for Albinism-Microcephaly-Digital Anomalies syndrome can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. 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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