A rare disorder characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.
Matched Phenotype
Gene
Mutation
MeSH
Rank
(Similarity) |
PMID
(PMCID) |
Phenotype(s) retrieved from Orphanet
Total: 7
| HPO ID |
Term |
Frequency |
| HP:0001171 |
Split hand |
Very frequent (99-80%) |
| HP:0002247 |
Duodenal atresia |
Very frequent (99-80%) |
| HP:0003422 |
Vertebral segmentation defect |
Very frequent (99-80%) |
| HP:0004322 |
Short stature |
Very frequent (99-80%) |
| HP:0009829 |
Phocomelia |
Very frequent (99-80%) |
| HP:0001829 |
Foot polydactyly |
Frequent (79-30%) |
| HP:0005359 |
Aplasia of the thymus |
Frequent (79-30%) |
Phenotype(s) retrieved from case reports
Total: 0
| HPO ID |
Term |
# of case reports |
Causative gene(s) retrieved from Orphanet
Total: 0
| Gene Symbol |
Gene Name |
Entrez Gene ID |
