- Flared metaphysis (HP:0003015): The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. Evidence: PCS. Frequency: 3/3. (PMID:25348816;PMID:30448303)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/3. (PMID:25348816;PMID:30448303)
- Limited elbow extension (HP:0001377): Limited ability to straighten the arm at the elbow joint. Evidence: PCS. Frequency: 1/1. (PMID:23824842)
- Rhizomelia (HP:0008905): Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). Evidence: PCS. Frequency: 3/3. (PMID:25348816;PMID:30448303)
- Femoral bowing (HP:0002980): Bowing (abnormal curvature) of the femur. Evidence: PCS. Frequency: 2/2. (PMID:30448303)
- 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: PCS. Frequency: 1/1. (PMID:25348816)
- Thoracic hypoplasia (HP:0005257). Evidence: PCS. Frequency: 1/1. (PMID:25348816)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 1/2. (PMID:30448303)
- Joint dislocation (HP:0001373): Displacement or malalignment of joints. Evidence: PCS. Frequency: 1/2. (PMID:30448303)
- Relative macrocephaly (HP:0004482): A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account. Evidence: PCS. Frequency: 1/2. (PMID:30448303)
- Short 5th metacarpal (HP:0010047): Short fifth metacarpal bone. Evidence: PCS. Frequency: 1/1. (PMID:23824842)
- Metaphyseal dysplasia (HP:0100255): The presence of dysplastic regions in metaphyseal regions. Evidence: PCS. Frequency: 1/1. (PMID:25348816)
- 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: PCS. Frequency: 1/1. (PMID:23824842)
- Broad hallux (HP:0010055): Visible increase in width of the hallux without an increase in the dorso-ventral dimension. Evidence: PCS. Frequency: 1/2. (PMID:30448303)
- Disproportionate short-limb short stature (HP:0008873): A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. Evidence: PCS. Frequency: 2/2. (PMID:30448303)
- Hyperlordosis (HP:0003307): Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine. Evidence: PCS. Frequency: 2/2. (PMID:23824842;PMID:25348816)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: PCS. Frequency: 1/1. (PMID:25348816)
- Wide intermamillary distance (HP:0006610): A larger than usual distance between the left and right nipple. Evidence: PCS. Frequency: 1/2. (PMID:30448303)
- Mild short stature (HP:0003502): A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex. Evidence: PCS. Frequency: 1/1. (PMID:23824842)
- Bowed humerus (HP:0003865): A bending or abnormal curvature of the humerus. Evidence: PCS. Frequency: 2/2. (PMID:30448303)
- Small foramen magnum (HP:0002677): An abnormal narrowing of the foramen magnum. Evidence: PCS. Frequency: 1/2. (PMID:30448303)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: PCS. Frequency: 1/1. (PMID:25348816)
- Limb undergrowth (HP:0009826): Limb shortening because of underdevelopment of one or more bones of the extremities. Evidence: PCS. Frequency: 1/2. (PMID:30448303)
- Metaphyseal irregularity (HP:0003025): Irregularity of the normally smooth surface of the metaphyses. Evidence: PCS. Frequency: 1/1. (PMID:25348816)
- Ovoid vertebral bodies (HP:0003300): When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval. Evidence: PCS. Frequency: 1/1. (PMID:25348816)
- Delayed ability to walk (HP:0031936): A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months. Evidence: PCS. Frequency: 1/2. (PMID:30448303)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: PCS. Frequency: 1/2. (PMID:30448303)
- Metaphyseal cupping (HP:0003021): Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance. Evidence: PCS. Frequency: 1/1. (PMID:25348816)
- Inverted nipples (HP:0003186): The presence of nipples that instead of pointing outward are retracted inwards. Evidence: PCS. Frequency: 1/2. (PMID:30448303)
- Platybasia (HP:0002691): A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base. Evidence: PCS. Frequency: 1/2. (PMID:30448303)
- Thoracic platyspondyly (HP:0004592): A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the thoracic spine. Evidence: PCS. Frequency: 1/1. (PMID:25348816)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: PCS. Frequency: 1/2. (PMID:30448303)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 1/2. (PMID:30448303)
- Hyposegmentation of neutrophil nuclei (HP:0011447): Hyposegmented (hypolobulated) or bilobed neutrophil nuclei. Evidence: PCS. Frequency: 2/2. (PMID:25348816;PMID:30448303)
- Camptodactyly (HP:0012385): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. Evidence: PCS. Frequency: 1/1. (PMID:25348816)
- Knee flexion contracture (HP:0006380): A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively. Evidence: PCS. Frequency: 1/1. (PMID:25348816)
- Short 4th metacarpal (HP:0010044): Short fourth metacarpal bone. Evidence: PCS. Frequency: 1/1. (PMID:23824842)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: PCS. Frequency: 1/2. (PMID:30448303)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. Frequency: 2/2. (PMID:30448303)
- 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: PCS. Frequency: 2/2. (PMID:30448303)
- 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: PCS. (PMID:23824842)
- Thoracolumbar kyphosis (HP:0005619): Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance. Evidence: PCS. Frequency: 1/1. (PMID:23824842)
- Thoracolumbar scoliosis (HP:0002944). Evidence: PCS. Frequency: 1/2. (PMID:30448303)
- Protuberant abdomen (HP:0001538): A thrusting or bulging out of the abdomen. Evidence: PCS. Frequency: 1/2. (PMID:30448303)
- Radial bowing (HP:0002986): A bending or abnormal curvature of the radius. Evidence: PCS. Frequency: 4/4. (PMID:23824842;PMID:25348816;PMID:30448303)
- Nevus flammeus of the forehead (HP:0007413): Naevus flammeus localized in the skin of the forehead. Evidence: PCS. Frequency: 1/2. (PMID:30448303)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: PCS. Frequency: 1/2. (PMID:30448303)
These phenotypes are associated with the disease regressive spondylometaphyseal dysplasia (OMIM:618019).