Zimmerman-Laband syndrome is a developmental disorder characterized by facial dysmorphism with gingival enlargement, bulbous soft nose, and think floppy ears, nail aplasia or hypoplasia, hypertrichosis, joint hypertextensibility, hepato(spleno)megaly, and impaired intellectual development with or without epilepsy (summary by Kortum et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of Zimmermann-Laband syndrome, see ZLS1 (135500). [from OMIM]
- MedGen UID:
- 897567
- •Concept ID:
- C4225321
- •
- Disease or Syndrome