Paula and Bobby
Parents of Lillie
What is Brachydactyly?
Brachydactyly is a rare disease. It is also known as Brachydactyly, Type E; Bde.
This type of Brachydactyly refers to shortening of the metacarpals, especially the 4th and the 5th. The metatarsals are similarly affected. In addition the distal phalanges of the 2nd and 5th digits are variably short and there might be cone-shaped epiphyses. There may be lack of symmetry and variable expression within the family (Oude Luttikhuis et al., 1996). Mildly rhizomelic or proportional short stature may be present. There has been a suggestion that this might be a variant of Albrights hereditary osteodystrophy but Oude Luttikhuis showed that the gene in the original family reported by Brailsford (1945) did not map to 2q37 or 20q13.
Johnson et al., (2003) reported two mutations of HOXD13 (923C-->G encoding Ser308Cys and 940A-->C encoding Ile314Leu) that cause missense substitutions within the homeodomain. Both were associated with Brachydactyly of specific metacarpals, metatarsals, and phalangeal bones overlapping with Brachydactyly types D and E. One of the families studied was the original Brailsford (1945) kindred. Five families reported by Klopocki et al., (2010) mapped to 12p and mutations were found in PTHLH - the gene encoding for parathyroid hormone related protein. Thomas-Teinturier et al., (2016), found 2 novel mutations in PTHLH. Another family (Jamsheer et al., 2012) was found to have a HOXD13 mutation.
Note the case reported by Koca and Ozdemir (2015) with features of both type D and type E.
Jean-Marcais et al., (2015) reported a father-daughter pair with Brachydactyly type E and short stature (normall intelligence), with a 2q37.3 deletion involving HDAC4 and TWIST2 and no other features of Albright.s disease.
* This information is courtesy of the L M D.
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What gene changes cause Brachydactyly?
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 - 113300 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
HOXD13 - 2q31.1
HDAC4 - 2q37.3
What are the main symptoms of Brachydactyly?
The typical symptoms of the syndrome are:
Brachydactyly, Short metacarpal, Short metatarsal, Round face, Short clavicles, Type E brachydactyly, Straight clavicles, Moderately short stature, Multiple impacted teeth, Autosomal dominant inheritance
How does someone get tested for Brachydactyly?
The initial testing for Brachydactyly 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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