- Enlarged joints (HP:0003037): Increase in size of one or more joints. Evidence: PCS. Frequency: 24/24. (PMID:20577006;PMID:19232556)
- Peripheral axonal neuropathy (HP:0003477): An abnormality characterized by disruption of the normal functioning of peripheral axons. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:156530)
- Severe short stature (HP:0003510): A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. Evidence: TAS. (OMIM:156530)
- Hypoplasia of the odontoid process (HP:0003311): Developmental hypoplasia of the dens of the axis. Evidence: PCS. Frequency: 1/1. (PMID:19232556)
- Flexion contracture (HP:0001371): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: PCS. Frequency: 2/2. (PMID:19232556)
- Short finger (HP:0009381): Abnormally short finger associated with developmental hypoplasia. Evidence: TAS. (OMIM:156530)
- Clavicular pseudarthrosis (HP:0034187): A developmental defect in a the clavicule leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or false joint). Evidence: PCS. Frequency: 1/2. (PMID:19232556)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: PCS. Frequency: 13/22. (PMID:20577006)
- Dumbbell-shaped metaphyses (HP:0002810). Evidence: PCS. Frequency: 2/2. (PMID:19232556)
- Epiphyseal dysplasia (HP:0002656). Evidence: PCS. Frequency: 13/18. (PMID:20577006)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 2/2. (PMID:19232556)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: PCS. Frequency: 9/22. (PMID:20577006)
- Disproportionate short-trunk short stature (HP:0003521): A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. Evidence: PCS. Frequency: 6/22. (PMID:20577006)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: PCS. Frequency: 15/19. (PMID:20577006)
- Abnormal metaphyseal vascular invasion (HP:0003562). Evidence: TAS. (OMIM:156530)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. Frequency: 24/24. (PMID:20577006;PMID:19232556)
- Caudal appendage (HP:0002825): The presence of a tail-like skin appendage located adjacent to the sacrum. Evidence: PCS. Frequency: 12/22. (PMID:20577006)
- Flared iliac wing (HP:0002869): Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing. Evidence: PCS. Frequency: 23/24. (PMID:20577006;PMID:19232556)
- Halberd-shaped pelvis (HP:0002826): An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle). Evidence: PCS. Frequency: 1/2. (PMID:19232556)
- Cupped ribs (HP:0000887): Wide, concave rib end. Evidence: PCS. Frequency: 21/22. (PMID:20577006)
- Flared humeral metaphysis (HP:0003911): Flaring (increase of width with a splayed appearance) of the humeral metaphysis. Evidence: TAS. (OMIM:156530)
- Hyperplasia of the femoral trochanters (HP:0002822). Evidence: IEA. (OMIM:156530)
- Autosomal dominant inheritance (HP:0000006): 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: PCS. (PMID:19232556)
- Flared metaphysis (HP:0003015): The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. Evidence: PCS. Frequency: 22/22. (PMID:20577006)
- Absent primary metaphyseal spongiosa (HP:0003332). Evidence: IEA. (OMIM:156530)
- 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: 15/21. (PMID:20577006;PMID:19232556)
- Narrow greater sciatic notch (HP:0003375): A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. Evidence: PCS. Frequency: 2/2. (PMID:19232556)
- Crescent-shaped iliac bone (HP:6000653): Deficient mineralization of the iliac wings, giving a paraglider/crescent shape to the iliac bone. Evidence: PCS. (PMID:28744080)
- 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: 16/22. (PMID:20577006)
- Dumbbell-shaped femur (HP:0006375): The femur is shortened and displays flaring (widening) of the metaphyses. Evidence: PCS. Frequency: 22/22. (PMID:20577006)
- Flared femoral metaphysis (HP:0002834). Evidence: TAS. (OMIM:156530)
- Respiratory failure (HP:0002878): A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. Evidence: TAS. (OMIM:156530)
- Anisospondyly (HP:0002879): Abnormally increased variability of the size of the vertebral bodies. Evidence: TAS. (OMIM:156530)
- Fetal akinesia sequence (HP:0001989): Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia). Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:156530)
- Narrow chest (HP:0000774): 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: PCS. Frequency: 20/22. (PMID:20577006)
- Short ribs (HP:0000773): Reduced rib length. Evidence: PCS. Frequency: 21/22. (PMID:20577006)
- Long coccyx (HP:0002831). Evidence: TAS. (OMIM:156530)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 2/2. Onset: Congenital onset (HP:0003577). (PMID:19232556)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 5/22. (PMID:20577006)
- Metaphyseal irregularity (HP:0003025): Irregularity of the normally smooth surface of the metaphyses. Evidence: PCS. Frequency: 7/21. (PMID:20577006)
- Respiratory insufficiency (HP:0002093). Evidence: PCS. Frequency: 1/2. (PMID:19232556)
- 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:19232556)
- Flat acetabular roof (HP:0003180): Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does. Evidence: PCS. Frequency: 1/2. (PMID:19232556)
- Cone-shaped epiphysis (HP:0010579): Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. Evidence: PCS. Frequency: 2/2. (PMID:19232556)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: PCS. Frequency: 6/22. (PMID:20577006)
- Flaring of rib cage (HP:0000904): The presence of wide, concave anterior rib ends. Evidence: PCS. Frequency: 2/2. (PMID:19232556)
- Arthrogryposis multiplex congenita (HP:0002804): Multiple congenital contractures in different body areas. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:156530)
- Decreased fetal movement (HP:0001558): An abnormal reduction in quantity or strength of fetal movements. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:156530)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: PCS. Frequency: 2/2. (PMID:19232556)
- Relatively short spine (HP:0002766). Evidence: TAS. (OMIM:156530)
- Abnormal enchondral ossification (HP:0003336): An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage. Evidence: TAS. Frequency: 20/20. (OMIM:156530)
These phenotypes are associated with the disease metatropic dysplasia (OMIM:156530).