Paula and Bobby
Parents of Lillie
What is Acrorenal syndrome?
Acrorenal syndrome is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
This condition was first described by Dieker and Opitz (1969) in three isolated males. The phenotype has since been extended to include the following acral defects; ectrodactyly, oligodactyly (mostly involving the middle digits, possibly part of a split hand or foot), skin syndactyly of the 1st and 2nd toes (a variable feature although a spicule of bone might be seen radiologically in the absence of skin syndactyly), brachydactyly and clinodactyly. There can be hypoplasia of the carpal and tarsal bones. The renal lesions vary from mild (bladder neck obstruction and a duplication of the collecting system) through hydronephrosis and unilateral renal agenesis.
Miltenyi et al., (1984) reported an affected male with 'tetraectrodactyly' and 'oligomeganephronic hypoplasia of the kidneys' and the same authors in 1992 reported that the parents had given birth to a girl with similar renal abnormalities. She had absence of the thumb and radial fingers and bilateral split foot malformations. Elfenbein (1974) reported a male with monodactyly of all four limbs who was also found to have oligomeganephronia. Zeier et al., (1989) reported an adult male with split hands, hypoplasia of the right kidney, focal segmental glomerular sclerosis and renal interstitial fibrosis.
Hypertelorism, an antimongoloid eyeslant, hypospadias and undescended testes may also occur.
Houlston and MacDermot (1992) reported a female case and provide a good review of the literature.
* This information is courtesy of the L M D.
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What gene changes cause Acrorenal syndrome?
The syndrome is inherited in the following inheritance pattern/s:
Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.
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 - 102520 (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 Acrorenal syndrome?
The typical symptoms of the syndrome are:
Hand oligodactyly, Abnormal renal morphology
How does someone get tested for Acrorenal syndrome?
The initial testing for Acrorenal syndrome 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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