Conditions / Syndrome
Loeys-Dietz syndrome 5
info · Syndrome
A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24.
Signs and symptoms
- Tented upper lip vermilion
- Failure to thrive in infancy
- Nevus flammeus
- Decreased muscle mass
- Hypotonia
- Broad face
- Smooth philtrum
- Aortic root aneurysm
- Long palpebral fissure
- Retrognathia
Also known as: LDS5; RNHF; Reinhoff syndrome