Categories: Skeleton phene (incl. short stature & teeth)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: no

Species-specific symbol: ch-2

History: Hermes et al. (1990) were the first to report this disorder, which is different to the previous chondrodystrophy reported by Collins et al. (1968) in quail (see OMIA000189-93934)

Inheritance: Hermes et al. (1990) reported autosomal recessive inheritance.

Clinical features: As summarised by Hermes et al. (1990): "an overall shortening and bending of the long bones of the wings and legs, slight dwarfing of the trunk, bulging of the eyes, flattening of the head, and a parrot beak. The shortened long bones vary in regard to the amount of bending from nearly straight to bends of up to 90° in the midshaft region. In severe cases, the bend is evident as a protuberance of the skin. Affected embryos usually survive the 18-day incubation period. Several have hatched, but most survived no longer than 4 days after hatching. Only one female has survived long enough to lay eggs."