Ostravik-Lindemann-Solberg syndrome
| Ostravil-Lindemann-Solberg syndrome | |
|---|---|
 | |
| Specialty | Medical genetics |
| Symptoms | congenital heart defects, polysyndactyly, and tongue hamartomas. |
| Complications | death |
| Usual onset | birth |
| Duration | life-long |
| Causes | Genetic mutation |
| Diagnostic method | Genetic testing. |
| Prevention | none |
| Frequency | very 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]
References
- ^ "Heart defect-tongue hamartoma-polysyndactyly syndrome - About the Disease". Genetic and Rare Diseases Information Center. 2021-01-08. Retrieved 2022-05-13.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Heart defect tongue hamartoma polysyndactyly syndrome". www.orpha.net.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "OMIM Entry - # 217085 - CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY; CHDTHP". omim.org.