Paula and Bobby
Parents of Lillie
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).
* This information is courtesy of the L M D.
If you find a mistake or would like to contribute additional information, please email us at: [email protected]
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.
What is FDNA Telehealth?
FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.
With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.
Benefits of FDNA Telehealth
Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.
FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.
Ease of Use
Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.
Accuracy & Precision
Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.
Faster access to genetic counselors, geneticists, genetic testing, and a diagnosis. As fast as within 24 hours if required. Save time and money.
Privacy & Security
We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.