Blepharochalasis and Double Lip

What is Blepharochalasis and Double Lip?

Blepharochalasis and Double Lip is a rare disease. It is also known as Ascher Syndrome Blepharochalasis - double lip syndrome Blepharochalasis-double lip syndrome Laffer-Ascher syndrome.

This condition is also called the blepharochalasis-double lip syndrome. The eyelids sag, especially laterally where they overhang the palpebral fissures, and are thin and atrophic. Occasionally there are episodes of lid and lip swelling, suggesting allergic factors or vasomotor instability might aggravate an otherwise congenital condition. It is mostly the upper lip which is duplicated horizontally but occasionally both upper and lower lips are involved. The thyroid enlargement is non-toxic. Most cases are sporadic but rare dominant transmission has been reported.
Blepharochalasis can occur as an isolated abnormality (see Goldberg et al., 1986). Parmar and Muranjan et al., (2004) reported a case without thyroid involvement and with 3rd finger clinodactyly. A double cleft lower lip can occur as an isolated malformation (Chidzonga and Mahomva, 2006).

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* This information is courtesy of the L M D.

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What gene changes cause Blepharochalasis and Double Lip?

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

Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.

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 - 109900 (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 Blepharochalasis and Double Lip?

The typical symptoms of the syndrome are:
Ptosis, Hypertelorism, Goiter, Visual impairment, Hypothyroidism, Autosomal dominant inheritance, Deviation of finger, Abnormality of the mouth, Abnormal palate morphology, Abnormality of the nose, Abnormality of the eye, Blepharochalasis, Blepharophimosis

How does someone get tested for Blepharochalasis and Double Lip?

The initial testing for Blepharochalasis and Double Lip 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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