- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3003)
- Depressed nasal ridge (HP:0000457): Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3003)
- Webbed neck (HP:0000465): Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3003)
- Short ribs (HP:0000773): Reduced rib length. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3003)
- Horizontal ribs (HP:0000888): A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3003)
- Sclerosis of skull base (HP:0002694): Increased bone density of the skull base without significant changes in bony contour. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3003)
- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3003)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3003)
- Hypoplastic ischia (HP:0003175): Underdevelopment of the ischium, which forms the lower and back part of the hip bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3003)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3003)
- Craniofacial hyperostosis (HP:0004493): Excessive growth of the craniofacial bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3003)
- Aplastic pubic bone (HP:0008817): A developmental defect characterized by lack of development of the pubis bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3003)
- Short thorax (HP:0010306): Reduced inferior to superior extent of the thorax. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3003)
- Abnormality of mouth shape (HP:0011338): An abnormality of the outline, configuration, or contour of the mouth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3003)
- Abnormal iliac wing morphology (HP:0011867): An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3003)
- Abnormal intramembranous ossification (HP:0012790): An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3003)
- Unossified sacrum (HP:0030290): Lack of ossification of the sacrum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3003)
- Increased head circumference (HP:0040194): An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3003)
- Palpebral edema (HP:0100540): Edema in the region of the eyelids. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3003)
- Enlarged thorax (HP:0100625). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3003)
- Muscular edema (HP:0100748). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3003)
- Poorly ossified vertebrae (HP:0100856): Decreased ossification of the vertebral bodies. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3003)
- Short iliac bones (HP:0100866): Underdevelopment of the iliac bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3003)
These phenotypes are associated with the disease Pyknoachondrogenesis (ORPHA:3003).