- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: IEA. (OMIM:265800)
- Spondylolisthesis (HP:0003302): Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra. Evidence: IEA. (OMIM:265800)
- Narrow palate (HP:0000189): Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective). Evidence: IEA. (OMIM:265800)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: IEA. (OMIM:265800)
- 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: IEA. (OMIM:265800)
- Osteolytic defects of the distal phalanges of the hand (HP:0009839). Evidence: IEA. (OMIM:265800)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: IEA. (OMIM:265800)
- Persistent open anterior fontanelle (HP:0004474): The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age. Evidence: IEA. (OMIM:265800)
- Delayed eruption of primary teeth (HP:0000680): Delayed tooth eruption affecting the primary dentition. Evidence: IEA. (OMIM:265800)
- Increased bone mineral density (HP:0011001): An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. Evidence: IEA. (OMIM:265800)
- Ridged nail (HP:0001807): Longitudinal, linear prominences in the nail plate. Evidence: IEA. (OMIM:265800)
- Aplastic clavicle (HP:0006660): Absence of the clavicles as a developmental defect. Evidence: TAS. (OMIM:265800)
- Hypodontia (HP:0000668): The absence of five or less teeth from the normal series by a failure to develop. Evidence: IEA. (OMIM:265800)
- Prominent nose (HP:0000448): Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. Evidence: IEA. (OMIM:265800)
- 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:265800)
- Narrow iliac wing (HP:0002868): Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). Evidence: TAS. (OMIM:265800)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. (OMIM:265800)
- Persistence of primary teeth (HP:0006335): Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth. Evidence: IEA. (OMIM:265800)
- Wormian bones (HP:0002645): The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium. Evidence: TAS. (OMIM:265800)
- Delayed eruption of permanent teeth (HP:0000696): Delayed tooth eruption affecting the secondary dentition. Evidence: IEA. (OMIM:265800)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: IEA. (OMIM:265800)
- Absent frontal sinuses (HP:0002688): Aplasia of frontal sinus. Evidence: IEA. (OMIM:265800)
- Prominent occiput (HP:0000269): Increased convexity of the occiput (posterior part of the skull). Evidence: TAS. (OMIM:265800)
- Spondylolysis (HP:0003304): Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma. Evidence: IEA. (OMIM:265800)
These phenotypes are associated with the disease pycnodysostosis (OMIM:265800).