Paula and Bobby
Parents of Lillie
Bijlsma (1980) - Mr; Cleft Palate; Aqueduct Stenosis; Contractures
What is Bijlsma (1980) - Mr; Cleft Palate; Aqueduct Stenosis; Contractures?
Bijlsma (1980) - Mr; Cleft Palate; Aqueduct Stenosis; Contractures is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
The original case report is difficult to interpret. The child had a cleft palate, a hypoplastic mandible, long slender fingers with a flexion contracture of the left 3rd finger, and club feet. At 5 years of age he was spastic and was significantly retarded. At that stage he was thought to have in addition large ears, myopia, narrow palpebral fissures, a broad nasal bridge and a narrow nose with hypoplastic alae nasi. An AEG showed hydrocephalus with aqueduct stenosis. The father had camptodactyly and the mother had a cleft lip. The author states that there is a strong family history of similar physical abnormalities in the parents but other than those mentioned no further detail is given.
A ten year old Mexican girl with similar features was reported by Boles (1999). CT scan just showed prominence of the lateral ventricles.
NOTE - the original Bijlsma (1980) patient has now been shown to have a chromosomal abnormality (deletion of 18q and trisomy 20p) - personal commnunication - Raoul Hennekam and Jeannette Hoogeboom(2009).
* 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 Bijlsma (1980) - Mr; Cleft Palate; Aqueduct Stenosis; Contractures?
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.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Bijlsma (1980) - Mr; Cleft Palate; Aqueduct Stenosis; Contractures?
The typical symptoms of the syndrome are:
How does someone get tested for Bijlsma (1980) - Mr; Cleft Palate; Aqueduct Stenosis; Contractures?
The initial testing for Bijlsma (1980) - Mr; Cleft Palate; Aqueduct Stenosis; Contractures 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.