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: da

History: As summarised by Robinson (1958), "A third form of dwarfism has been reported by NACHTSHEIM (1937a) and by SCHNECKE (1941) which differ in several details from" Achondroplasia-1 (OMIA:001996-9986) and achondroplasia-2 (OMIA:001997-9986).

Clinical features: As summarised by Robinson (1958): "These dwarfs are a little more viable, many surviving to the age of 3 weeks, although some die soon after birth. The gene, da, is not fully recessive and homozygous dwarfs, dada, are approximately half the normal weight and their subsequent growth is very tardy. The head is abnormally short and the lower incisors may lie in front of the upper instead of behind; consequently the teeth may be excessively long. The forehead appears swollen and the eyeballs 'protrude (exophthalmus). The heterozygote is smaller than the homozygous normal somewhat similarly to the other dwarf types."