Paula and Bobby
Parents of Lillie
Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia
What is Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia?
Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Three sibs were reported by Goodman et al., (1972) with a facial dysmorphism, camptodactyly, a fibrous tissue hyperplasia and skeletal changes. The family was Iranian Jewish, but affected sibs had an unusually broad nose with a broad nasal tip and unusually flared nostrils. All the digits were involved in the camptodactyly except for the thumbs. Prominent knuckle pads and hammer toes were also observed in affected individuals.
* 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 Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia?
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 - 211930 (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 Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia?
The typical symptoms of the syndrome are:
Abnormality of the face, Autosomal recessive inheritance, Patent ductus arteriosus, Mask-like facies, Joint contracture of the hand, Hammertoe, Cognitive impairment, Camptodactyly of finger, Skeletal dysplasia, Scoliosis, Camptodactyly, Arachnodactyly, Abnormality of the nose, Coarse facial features
How does someone get tested for Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia?
The initial testing for Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia 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.