Phenotypes associated with the disease acromesomelic dysplasia 2B (OMIM:228900):
- Small nail (HP:0001792): A nail that is diminished in length and width, i.e., underdeveloped nail. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:12121354)
- Fibular hypoplasia (HP:0003038): Underdevelopment of the fibula. Evidence: IEA. (OMIM:228900)
- Rhizomelia (HP:0008905): Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:12121354)
- Talipes equinovalgus (HP:0001772): A deformity of foot and ankle in which the foot is bent down and outwards. Evidence: PCS. Frequency: Frequent (HP:0040282). (OMIM:228900)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: PCS. Frequency: Very frequent (HP:0040281). (PMID:12121354)
- Fibular aplasia (HP:0002990): Absence of the fibula. Evidence: PCS. Frequency: Very frequent (HP:0040281). (PMID:2363425)
- Short metacarpal (HP:0010049): Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:12121354)
- Deviation of finger (HP:0004097): Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:12121354)
- Aplastic/hypoplastic toenail (HP:0010624): Absence or underdevelopment of the toenail. Evidence: TAS. (OMIM:228900)
- Short metatarsal (HP:0010743): Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:12121354)
- Malaligned carpal bone (HP:0006092): Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna). Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:12121354)
- 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: Frequent (HP:0040282). (PMID:12121354)
- 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. (OMIM:228900)
- Patellar dislocation (HP:0002999): The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:12121354)
- Short phalanx of finger (HP:0009803): Short (hypoplastic) phalanx of finger, affecting one or more phalanges. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:12121354)
- Deformed tarsal bones (HP:0008119). Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:12121354)