- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:26870132)
- Fibular hypoplasia (HP:0003038): Underdevelopment of the fibula. Evidence: IEA. (OMIM:200700)
- Short foot (HP:0001773): A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). Evidence: IEA. (OMIM:200700)
- Flexion contracture (HP:0001371): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: IEA. (OMIM:200700)
- Short femur (HP:0003097): An abnormal shortening of the femur. Evidence: IEA. (OMIM:200700)
- Distal tibiofibular synostosis (HP:6000650): Fusion of the distal (i.e.., located away from the trunk) part of the tibia and fibula. Evidence: PCS. (PMID:27326275)
- Short humerus (HP:0005792): Underdevelopment of the humerus. Evidence: IEA. (OMIM:200700)
- Disproportionate short-limb short stature (HP:0008873): A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. Evidence: PCS. (PMID:9288098)
- Stillbirth (HP:0003826): Death of the fetus in utero after at least 22 weeks of gestation. Evidence: TAS. (OMIM:200700)
- Aplasia/Hypoplasia of the patella (HP:0006498): Absence or underdevelopment of the patella. Evidence: IEA. (OMIM:200700)
- Death in infancy (HP:0001522): Death within the first 24 months of life. Evidence: IEA. (OMIM:200700)
- Tibiotalar synostosis (HP:6001052): Fusion of the junction between the distal tibia, fibula and the talus. Evidence: PCS. (PMID:27577507)
- Aplasia/Hypoplasia of metatarsal bones (HP:0001964): Absence or underdevelopment of the metatarsal bones. Evidence: IEA. (OMIM:200700)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 0/1. (PMID:26870132)
- Short phalanx of finger (HP:0009803): Short (hypoplastic) phalanx of finger, affecting one or more phalanges. Evidence: IEA. (OMIM:200700)
- Hypoplasia of the ulna (HP:0003022): Underdevelopment of the ulna. Evidence: IEA. (OMIM:200700)
- Postaxial hand polydactyly (HP:0001162): Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). Evidence: PCS. Frequency: 5/8. (PMID:9288098)
- Acromesomelia (HP:0003086): Small hands and feet. Evidence: PCS. Frequency: 1/1. (PMID:26870132)
- Short digit (HP:0011927): One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened. Evidence: TAS. (OMIM:200700)
- Fibular torsion (HP:6000921): Excessively rotated (also called torsion) position of the fibula (calf bone). An increased external rotation of the fibula in the incisura tibiofibularis of more than 5 degrees may lead to an increased pressure and will negatively affect the cartilage. Evidence: PCS. (PMID:27577507)
- Pes valgus (HP:0008081): An outward (valgus) deviation of the calcaneus relative to the longitudinal axis of the lower leg at the talocalcaneal (subtalar) joint, such that the heel is everted. Evidence: IEA. (OMIM:200700)
- 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:9288098)
- Aplasia/Hypoplasia involving the metacarpal bones (HP:0005914): Aplasia or Hypoplasia affecting the metacarpal bones. Evidence: IEA. (OMIM:200700)
- Short tibia (HP:0005736): Underdevelopment (reduced size) of the tibia. Evidence: IEA. (OMIM:200700)
- Hypoplasia of the radius (HP:0002984): Underdevelopment of the radius. Evidence: IEA. (OMIM:200700)
- Valgus hand deformity (HP:0006228). Evidence: IEA. (OMIM:200700)
These phenotypes are associated with the disease acromesomelic dysplasia 2A (OMIM:200700).