- Mesomelia (HP:0003027): Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. Evidence: IEA. (OMIM:249700)
- Fibular hypoplasia (HP:0003038): Underdevelopment of the fibula. Evidence: PCS. Frequency: 0/1. (PMID:17394206)
- Broad ulna (HP:0003993): Increased width of the ulna. Evidence: TAS. (OMIM:249700)
- Increased carrying angle (HP:0003102): An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm. Evidence: PCS. Frequency: 1/1. (PMID:17394206)
- Hypoplasia of the ulna (HP:0003022): Underdevelopment of the ulna. Evidence: TAS. (OMIM:249700)
- Madelung deformity (HP:0003067): An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna. Evidence: PCS. Frequency: 1/1. (PMID:17394206)
- Rhizomelic arm shortening (HP:0004991): Disproportionate shortening of the proximal segment of the arm (i.e. the humerus). Evidence: PCS. Frequency: 1/1. (PMID:17394206)
- Mesomelic arm shortening (HP:0005011): Shortening of the middle parts of the arm in relation to the upper and terminal segments. Evidence: PCS. Frequency: 1/1. (PMID:17394206)
- Short femoral neck (HP:0100864): An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: IEA. (OMIM:249700)
- Rudimentary fibula (HP:0006381): Absent or nearly absent fibula. (Does not include aplastic). Evidence: IEA. (OMIM:249700)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: IEA. (OMIM:249700)
- 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: IEA. (OMIM:249700)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: PCS. Frequency: 1/1. (PMID:17394206)
- Radial bowing (HP:0002986): A bending or abnormal curvature of the radius. Evidence: TAS. (OMIM:249700)
- Short tibia (HP:0005736): Underdevelopment (reduced size) of the tibia. Evidence: IEA. (OMIM:249700)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: IEA. (OMIM:249700)
- Hypoplasia of the radius (HP:0002984): Underdevelopment of the radius. Evidence: IEA. (OMIM:249700)
- 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:17394206)
- Mesomelic short stature (HP:0008845): A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg). Evidence: PCS. Frequency: 1/1. (PMID:17394206)
These phenotypes are associated with the disease Langer mesomelic dysplasia (OMIM:249700).