- Short long bone (HP:0003026, a Human Phenotype Ontology term): One or more abnormally short long bone. Evidence: PCS. Frequency: 2/2. (PMID:29122926)
- Limb undergrowth (HP:0009826, a Human Phenotype Ontology term): Limb shortening because of underdevelopment of one or more bones of the extremities. Evidence: PCS. Frequency: 2/2. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:29122926)
- Corneal opacity (HP:0007957, a Human Phenotype Ontology term): A reduction of corneal clarity. Evidence: PCS. Frequency: 2/2. (PMID:29122926)
- Metaphyseal widening (HP:0003016, a Human Phenotype Ontology term): Abnormal widening of the metaphyseal regions of long bones. Evidence: PCS. Frequency: 2/2. (PMID:29122926)
- Lumbar platyspondyly (HP:0005787, a Human Phenotype Ontology term): A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the lumbar spine. Evidence: PCS. Frequency: 2/2. (PMID:29122926)
- Brachydactyly (HP:0001156, a Human Phenotype Ontology term): 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: 2/2. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:29122926)
- Anteverted nares (HP:0000463, a Human Phenotype Ontology term): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: PCS. Frequency: 2/2. (PMID:29122926)
- Squared iliac bones (HP:0003177, a Human Phenotype Ontology term): A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance. Evidence: PCS. Frequency: 2/2. (PMID:29122926)
- Short nose (HP:0003196, a Human Phenotype Ontology term): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: PCS. Frequency: 2/2. (PMID:29122926)
- Increased intervertebral space (HP:0030320, a Human Phenotype Ontology term): An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space. Evidence: PCS. Frequency: 2/2. (PMID:29122926)
- Thoracic platyspondyly (HP:0004592, a Human Phenotype Ontology term): A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the thoracic spine. Evidence: PCS. Frequency: 2/2. (PMID:29122926)
- Coarse metaphyseal trabecularization (HP:0100670, a Human Phenotype Ontology term): Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms. Evidence: PCS. Frequency: 2/2. (PMID:29122926)
- Severe global developmental delay (HP:0011344, a Human Phenotype Ontology term): A severe delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: PCS. (PMID:29122926)
- Depressed nasal bridge (HP:0005280, a Human Phenotype Ontology term): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 2/2. (PMID:29122926)
- Death in childhood (HP:0003819, a Human Phenotype Ontology term): Death in during childhood, defined here as between the ages of 2 and 10 years. Evidence: PCS. Frequency: 1/2. (PMID:29122926)
- Hypertelorism (HP:0000316, a Human Phenotype Ontology term): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 2/2. (PMID:29122926)
- Autosomal recessive inheritance (HP:0000007, 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 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. (PMID:29122926)
- Neonatal hypotonia (HP:0001319, a Human Phenotype Ontology term): Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. Evidence: PCS. Frequency: 2/2. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:29122926)
- Narrow chest (HP:0000774, a Human Phenotype Ontology term): Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. Evidence: IEA. Frequency: 2/2. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:29122926)
- Patent ductus arteriosus (HP:0001643, a Human Phenotype Ontology term): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: PCS. Frequency: 2/2. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:29122926)
- Short ribs (HP:0000773, a Human Phenotype Ontology term): Reduced rib length. Evidence: PCS. Frequency: 2/2. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:29122926)
- Proptosis (HP:0000520, a Human Phenotype Ontology term): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: PCS. Frequency: 2/2. (PMID:29122926)
- Neonatal respiratory distress (HP:0002643, a Human Phenotype Ontology term): Respiratory difficulty as newborn. Evidence: PCS. Frequency: 2/2. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:29122926)
- Beaking of vertebral bodies (HP:0004568, a Human Phenotype Ontology term): Anterior tongue-like protrusions of the vertebral bodies. Evidence: PCS. Frequency: 2/2. (PMID:29122926)
These phenotypes are associated with the disease spondylometaphyseal dysplasia with corneal dystrophy (OMIM:618961, an entry in Online Mendelian Inheritance in Man).