Exostosis of external ear canal- MedGen UID:
- 56363
- •Concept ID:
- C0155411
- •
- Disease or Syndrome
A benign bony growth projecting outward from a bone surface within the external auditory canal.
Autosomal recessive multiple pterygium syndrome- MedGen UID:
- 82696
- •Concept ID:
- C0265261
- •
- Congenital Abnormality
Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (253290) and nonlethal (Escobar) types.
VISS syndrome- MedGen UID:
- 1794165
- •Concept ID:
- C5561955
- •
- Disease or Syndrome
VISS syndrome is a generalized connective tissue disorder characterized by early-onset thoracic aortic aneurysm and other connective tissue findings, such as aneurysm and tortuosity of other arteries, joint hypermobility, skin laxity, and hernias, as well as craniofacial dysmorphic features, structural cardiac defects, skeletal anomalies, and motor developmental delay (Van Gucht et al., 2021). Immune dysregulation has been observed in some patients (Ziegler et al., 2021).