- Short long bone (HP:0003026, a Human Phenotype Ontology term): One or more abnormally short long bone. Evidence: TAS. (PMID:9719382)
- Limb undergrowth (HP:0009826, a Human Phenotype Ontology term): Limb shortening because of underdevelopment of one or more bones of the extremities. Evidence: TAS. (OMIM:118651)
- Micromelia (HP:0002983, a Human Phenotype Ontology term): The presence of abnormally small extremities. Evidence: TAS. (OMIM:118651)
- Malar flattening (HP:0000272, a Human Phenotype Ontology term): Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. Evidence: IEA. (OMIM:118651)
- Short 2nd metacarpal (HP:0010038, a Human Phenotype Ontology term): Short second metacarpal bone because of developmental hypoplasia. Evidence: TAS. (OMIM:118651)
- Midface retrusion (HP:0011800, a Human Phenotype Ontology term): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: TAS. (OMIM:118651)
- Epiphyseal stippling (HP:0010655, a Human Phenotype Ontology term): The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses. Evidence: TAS. (PMID:9719382)
- Short 3rd metacarpal (HP:0010041, a Human Phenotype Ontology term): Short third metacarpal bone. Evidence: TAS. (OMIM:118651)
- Short 4th metacarpal (HP:0010044, a Human Phenotype Ontology term): Short fourth metacarpal bone. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:118651)
- Coronal cleft vertebrae (HP:0003417, a Human Phenotype Ontology term): Frontal schisis (cleft or cleavage) of vertebral bodies. Evidence: TAS. (OMIM:118651)
- Calcific stippling (HP:0002832, a Human Phenotype Ontology term): An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs). Evidence: TAS. (OMIM:118651)
- Short tibia (HP:0005736, a Human Phenotype Ontology term): Underdevelopment (reduced size) of the tibia. Evidence: TAS. (OMIM:118651)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: TAS. (OMIM:118651)
- Depressed nasal ridge (HP:0000457, a Human Phenotype Ontology term): Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. Evidence: IEA. (OMIM:118651)
These phenotypes are associated with the disease chondrodysplasia punctata, tibial-metacarpal type (OMIM:118651, an entry in Online Mendelian Inheritance in Man).