- Absent forearm (HP:0005632). Evidence: PCS. Frequency: Very frequent (HP:0040281). (OMIM:200500;PMID:11090342)
- Peromelia (HP:0009828): The distal parts of the limbs are missing leading to a stump formation. Evidence: PCS. Frequency: Very frequent (HP:0040281). (OMIM:200500;PMID:11090342)
- Aplasia of the ulna (HP:0003982): Missing ulna bone associated with congenital failure of development. Evidence: PCS. Frequency: Very frequent (HP:0040281). (OMIM:200500;PMID:11090342)
- Fibular aplasia (HP:0002990): Absence of the fibula. Evidence: PCS. Frequency: Very frequent (HP:0040281). (OMIM:200500;PMID:11090342)
- Carpal bone aplasia (HP:0004231): Congenital absence of a carpal bone. Evidence: PCS. Frequency: Very frequent (HP:0040281). (OMIM:200500;PMID:11090342)
- Short humerus (HP:0005792): Underdevelopment of the humerus. Evidence: PCS. Frequency: Very frequent (HP:0040281). (OMIM:200500;PMID:11090342)
- Aplasia of the tarsal bones (HP:0010509): Absence of the tarsal bones. Evidence: PCS. Frequency: Very frequent (HP:0040281). (OMIM:200500;PMID:11090342)
- Aplasia of metacarpal bones (HP:0010048): Developmental defect associated with absence of one or more metacarpal bones. Evidence: PCS. Frequency: Very frequent (HP:0040281). (OMIM:200500;PMID:11090342)
- Absent hand (HP:0004050): The total absence of the hand, with no bony elements distal to the radius or ulna. Evidence: PCS. Frequency: Very frequent (HP:0040281). (OMIM:200500;PMID:11090342)
- Absent metatarsal bone (HP:0010744): A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone. Evidence: PCS. Frequency: Very frequent (HP:0040281). (OMIM:200500;PMID:11090342)
- Absent toe (HP:0010760): Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues. Evidence: PCS. Frequency: Very frequent (HP:0040281). (OMIM:200500;PMID:11090342)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:11090342)
- Lower limb peromelia (HP:0009820): Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation. Evidence: PCS. Frequency: Very frequent (HP:0040281). (OMIM:200500;PMID:11090342)
- Short tibia (HP:0005736): Underdevelopment (reduced size) of the tibia. Evidence: PCS. Frequency: Very frequent (HP:0040281). (OMIM:200500;PMID:11090342)
- Absent radius (HP:0003974): Missing radius bone associated with congenital failure of development. Evidence: PCS. Frequency: Very frequent (HP:0040281). (OMIM:200500;PMID:11090342)
- Aplasia of the phalanges of the hand (HP:0009802): Absence of one or more of the phalanges of the hand. Evidence: PCS. Frequency: Very frequent (HP:0040281). (OMIM:200500;PMID:11090342)
These phenotypes are associated with the disease acheiropody (OMIM:200500).