Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction

What is Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction?

Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction is a rare disease. It is also known as Christian Brachydactyly.

This entry refers to an autosomal dominant pedigree segregating for brachydactyly, hallux varus and thumb abduction (Christian et al., 1972). The thumbs are short and relatively broad, and the index and 3rd fingers are short. The 4th and 5th fingers appear normal. X-rays of the hands show the 1st metacarpal to be short and broad, and metacarpals 2-5 to have increased cortical thickness. An angulation occurs at the metacarpo-phalangeal joint. It should be noted that the toes are rather bulbous and that the 2nd toe is relatively long. The big toe is grossly medially deviated. The toes bear some resemblance to the tree-frog toes seen in OPD. Affected individuals seem to have mild to moderate mental retardation. There are similarities to Mononen (1992) (qv). Sharma et al., (1994) reported a father and daughter with similar limb abnormalities and unusual facial features including a prominent forehead, a beaked nose, retrognathia and synophrys.
Lim-Dunham et al., (1995) reported an affected father and two daugthers. Intelligence was normal.

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* This information is courtesy of the L M D.

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What gene changes cause Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction?

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 - 112450 (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 Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction?

The typical symptoms of the syndrome are:
Autosomal dominant inheritance, Preaxial hand polydactyly, Short metacarpal, Short metatarsal, Radial club hand, Thick eyebrow, Synophrys, Frontal bossing, Micrognathia, Brachydactyly, Short thumb, Short hallux, Hitchhiker thumb, Short distal phalanx of finger, Wide nasal bridge, Abnormality of the metacarpal bones, Abnormal palate morphology, Abnormal fingernail morphology

How does someone get tested for Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction?

The initial testing for Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction 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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