Ostravik-Lindemann-Solberg syndrome

Last updated
Ostravil-Lindemann-Solberg syndrome
Autosomal dominant inheritance, pedigree example.png
Specialty Medical genetics
Symptoms congenital heart defects, polysyndactyly, and tongue hamartomas.
Complications death
Usual onsetbirth
Durationlife-long
Causes Genetic mutation
Diagnostic method Genetic testing.
Preventionnone
Frequencyvery rare, only 5 cases have been reported

Ostravik-Lindemann-Solberg syndrome, also known as heart defect-tongue hamartoma-polysyndactyly syndrome is a rare, multi-systemic genetic disorder which is characterized by congenital heart defects, tongue hamartomas, postaxial polydactyly of the hand, and syndactylism of the foot. This condition is thought to be caused by an autosomal dominant mutation in the WDPCP gene, in chromosome 2. [1] [2] Only 5 cases have been recorded in medical literature. [3]

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References

  1. "Heart defect-tongue hamartoma-polysyndactyly syndrome - About the Disease". Genetic and Rare Diseases Information Center. 2021-01-08. Retrieved 2022-05-13.
  2. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Heart defect tongue hamartoma polysyndactyly syndrome". www.orpha.net.
  3. "OMIM Entry - # 217085 - CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY; CHDTHP". omim.org.