Limb-only ENDOVE syndrome (ENDOVESL) is characterized by marked mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. Patients also exhibit abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies have been observed (Allou et al., 2021). [from OMIM]
- MedGen UID:
- 1787128
- •Concept ID:
- C5543128
- •
- Disease or Syndrome