Paula and Bobby
Parents of Lillie
Brachydactyly, Type B2
What is Brachydactyly, Type B2?
Brachydactyly, Type B2 is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
* This information is courtesy of the L M D.
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What gene changes cause Brachydactyly, Type B2?
The syndrome is inherited in the following inheritance pattern/s:
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 - 611377 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
NOG - 17q22
What are the main symptoms of Brachydactyly, Type B2?
The typical symptoms of the syndrome are:
Aplasia/Hypoplasia of the distal phalanges of the hand, Anonychia, Absent phalangeal crease, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the nails, Aplasia/Hypoplasia of the middle phalanges of the toes, Aplasia/Hypoplasia of the middle phalanges of the hand, Sensorineural hearing impairment, Autosomal dominant inheritance, Short toe, Short distal phalanx of finger, Hypermetropia, Short 1st metacarpal, Proximal placement of thumb, Carpal synostosis, Symphalangism affecting the phalanges of the hand, Synostosis of carpal bones, Tarsal synostosis, Proximal symphalangism of hands, Cutaneous syndactyly of toes, Cutaneous finger syndactyly, Finger syndactyly, Brachydactyly, Distal symphalangism of hands
How does someone get tested for Brachydactyly, Type B2?
The initial testing for Brachydactyly, Type B2 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.
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