Arthrogryposis, Distal, Type 7; DA7

What is Arthrogryposis, Distal, Type 7; DA7?

Arthrogryposis, Distal, Type 7; DA7 is a rare disease. It is also known as DA7 Dutch-Kentucky syndrome Hecht Syndrome Mouth, Inability To Open Completely, And Short Finger-flexor Tendons Trismus-pseudocamptodactyly Syndrome.

This autosomal dominant condition consists of an inability to open the mouth (trismus) and 'pseudocamptodactyly' (flexion of the interphalangeal joints on dorsiflexion of the wrist with the ability to straighten the fingers on volarflexion). Mild short stature, talipes equinovarus and shortening of the hamstring muscles may also be present.

GENETICS
The condition has now been mapped in the original Dutch family plus 3 USA families (Dutch-Kentucky syndrome) to 17p13 and mutations were found in MYH8 (myosin heavy chain 8). The patient, with a mutation reported by Minzer-Conzetti et al., (2008) had more widespread joint involvement and mild facial dysmorphism. Note the siblings reported by Bonapace et al., (2010), presumably caused by mosaicism in the father. Note too in LNDB under "myopathy - nemaline rodes and cores" fot the paper by Davidson et al., (2013) as the intial diagnosis was trismus-pseudocamptodactyly before finding nemaline rods and cores and a TPM2 mutation

Read More

* 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 Arthrogryposis, Distal, Type 7; DA7?

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

Autosomal Dominant - 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.


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 - 158300 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
MYH8 - 17p13.1

What are the main symptoms of Arthrogryposis, Distal, Type 7; DA7?

The typical symptoms of the syndrome are:
Abnormality of the musculature, Abnormality of the hip bone, Micrognathia, Metatarsus adductus, Mandibular prognathia, Cutaneous syndactyly of toes, Arthrogryposis multiplex congenita, Dysphagia, Deep philtrum, Limitation of joint mobility, Hip dislocation, Distal arthrogryposis, Feeding difficulties in infancy, Facial asymmetry, Macrocephaly, Symphalangism affecting the phalanges of the hand, Talipes equinovarus, Ptosis, Autosomal dominant inheritance, Trismus, Short stature, Hammertoe

How does someone get tested for Arthrogryposis, Distal, Type 7; DA7?

The initial testing for Arthrogryposis, Distal, Type 7; DA7 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.

Get Faster and More Accurate Genetic Diagnosis!

More than 250,000 patients successfully analyzed!
Don't wait years for a diagnosis. Act now and save valuable time.

Start Here!

"Our road to a rare disease diagnosis was a 5-year journey that I can only describe as trying to take a road trip with no map. We didn’t know our starting point. We didn’t know our destination. Now we have hope."

Image

Paula and Bobby
Parents of Lillie

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

FDNA icon

Credibility

Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.

FDNA icon

Accessibility

FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.

FDNA icon

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.

FDNA icon

Accuracy & Precision

Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.

FDNA icon

Value for
Money

Faster access to genetic counselors, geneticists, genetic testing, and a diagnosis. As fast as within 24 hours if required. Save time and money.

FDNA icon

Privacy & Security

We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.

FDNA Telehealth can bring you closer to a diagnosis.
Schedule an online genetic counseling meeting within 72 hours!