Table 1 Inherited limb deficiencies in various species

Amputated

Cattle

AR

Absence of limbs distal from elbow and hock joints

NK

https://omia.org/OMIA000036/9913/; [36, 39, 40]

Acroteriasis congenita

Cattle

AR

Absence of the distal parts of the limbs, head deformities

NK

https://omia.org/OMIA000010/9913/; [37, 40]

Ectromelia

Cattle

NK

Congenital absence of distal parts of the limbs, cleft lip/palate, mandibular hypoplasia, scoliosis

NK

https://omia.org/OMIA001126/9913/; [38, 40]

Dog

NK

Front legs very small or absent

NK

https://omia.org/OMIA001126/9615/; [7]

Hemimelia

Dog

NK

Congenital absence of all or part of the distal part of a limb

NK

https://omia.org/OMIA000450/9615/; [6]

Goat

NK

Congenital absence of all or part of the distal part of a limb

NK

https://omia.org/OMIA000450/9925/; [3]

Sheep

NK

Congenital absence of all or part of the distal part of a limb

NK

https://omia.org/OMIA000450/9940/; [9, 63]

Limbless

Chicken

AR

Absence of limbs, shortened upper beak

NK

https://omia.org/OMIA000602/9031/; [13]

Peromelia

Cattle

NK

Absence of the distal parts of the limbs

NK

https://omia.org/OMIA000786/9913/; [2]

Goat

AR

Absence of the distal parts of the limbs

NK

https://omia.org/OMIA000786/9925/; [5]

Footless

Mouse

AR

Abnormal limb morphology, abnormal kidney development, cleft palate, absence of all nails

Rspo2^ftls

https://informatics.jax.org/allele/key/29601; [10]

Fgf-10-deficiency

Mouse

AR

Complete absence of limbs, abnormal lung development

Fgf10^tm1Wss

https://informatics.jax.org/allele/key/3008;

Renal dysplasia-limb defects syndrome

Human

AR

Growth retardation, complete phocomelia of upper limbs, renal dysplasia, abnormal genitalia

NK

https://omim.org/entry/266910; [48]

Posterior amelia

Human

AR

Absence of hindlimbs, hypoplastic or absent pelvic bones, hypoplasia of the sacrum, lung hypoplasia

TBX4

https://omim.org/entry/601360; [50]

Tetraamelia syndrome 1

Human

AR

Limb agenesis, cleft lip/palate, diaphragmatic defect, lung, renal and adrenal agenesis, pelvic hypoplasia, urogenital defects

WNT3

https://omim.org/entry/273395; [20, 47]

Tetraamelia syndrome

Human

AR

Rudimentary appendages or complete absence of the limbs, bilateral agenesis of the lungs, cleft lip/palate, ankyloglossia, mandibular hypoplasia, microretrognathia, labioscrotal fold aplasia

RSPO2

https://omim.org/entry/618021; [22, 49]

Al-Awadi/Raas-Rothschild syndrome

Human

AR

Severe malformations of upper and lower limbs with severely hypoplastic pelvis and abnormal genitalia

WNT7A

https://omim.org/entry/276820; [21]