overgrowth syndrome with 2q37 translocation
Findings
No curated finding names overgrowth syndrome with 2q37 translocation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported.
Definition from the Mondo Disease Ontology (MONDO:0034676), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of