Nasopalpebral lipoma-coloboma syndrome

What is Nasopalpebral lipoma-coloboma syndrome?

Nasopalpebral lipoma-coloboma is a rare genetic syndrome that affects mainly the eyes specifically with lipomas (benign tissue of fat) and colobomas (holes in any part of the eye- iris, retina, choroid, optic disc).

This syndrome is also known as:
Palpebral Coloboma-Lipoma Syndrome

What gene changes cause Nasopalpebral lipoma-coloboma syndrome?

Mutations in the ZDBF2 gene are possibly responsible for causing the syndrome., however, is still an association but not a definitive cause. 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 Nasopalpebral lipoma-coloboma syndrome?

The main symptoms of the syndrome include lipomas on the upper eyelid and nasopalpebral. Lipomas are benign tumors made of fat. It also includes colobomas (holes in parts of the eyes) in the upper and lower eyelids. Telecanthus is another main syndrome, this means there is an increased distance between the inner corners of the eyes.
The syndrome also presents with an underdeveloped jaw (maxillary hypoplasia).

Possible clinical traits/features:
Autosomal dominant inheritance, Upper eyelid coloboma, Nystagmus, Lacrimation abnormality, Absent lacrimal punctum, Aplasia/Hypoplasia of the eyebrow, Cataract, Wide nasal bridge, Eyelid coloboma, Lipomas of eyelids, Telecanthus, Strabismus, Lower eyelid coloboma, Ectopic lacrimal punctum, Opacification of the corneal stroma, Depressed nasal bridge, Abnormality of the skin, Broad forehead, High anterior hairline, Hypertelorism, Multiple lipomas.

How is it diagnosed?

To find out if someone has a diagnosis of Nasopalpebral lipoma-coloboma syndrome, 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.

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