Paula and Bobby
Parents of Lillie
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.
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
* This information is courtesy of the L M D.
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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.
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