- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: TAS. (OMIM:610682)
- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: TAS. (OMIM:610682)
- Rhizomelia (HP:0008905): Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). Evidence: PCS. Frequency: 8/8. (PMID:12110406)
- Absent pulmonary artery (HP:0004960): A congenital defect with aplasia (absence) of one of the right or left pulmonary artery. Evidence: TAS. (OMIM:610682)
- Hearing abnormality (HP:0000364): An abnormality of the sensory perception of sound. Evidence: PCS. Frequency: 0/8. (PMID:12110406)
- Protrusio acetabuli (HP:0003179): Intrapelvic bulging of the medial acetabular wall. Evidence: PCS. Frequency: 4/8. (PMID:12110406)
- 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: TAS. (OMIM:610682)
- Wide anterior fontanel (HP:0000260): Enlargement of the anterior fontanelle with respect to age-dependent norms. Evidence: TAS. (OMIM:610682)
- Antenatal onset (HP:0030674): Onset prior to birth. Evidence: PCS. Frequency: 4/4. (PMID:12110406)
- Decreased calvarial ossification (HP:0005474): Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone). Evidence: TAS. (OMIM:610682)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: TAS. (OMIM:610682)
- Bowing of the legs (HP:0002979): A bending or abnormal curvature affecting a long bone of the leg. Evidence: PCS. Frequency: 8/8. (PMID:12110406)
- Femoral retroversion (HP:0008796): An abnormal backward rotation of the hip relative to the knee such that the hips are externally rotated with the foot pointed outward instead of straight ahead (out-toeing). Evidence: TAS. (OMIM:610682)
- Coxa vara (HP:0002812): Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. Evidence: PCS. Frequency: 8/8. (PMID:12110406)
- Recurrent fractures (HP:0002757): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: PCS. Frequency: 7/7. (PMID:12110406)
- Death in infancy (HP:0001522): Death within the first 24 months of life. Evidence: TAS. (OMIM:610682)
- 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: TAS. (OMIM:610682)
- Vertebral compression fracture (HP:0002953). Evidence: PCS. Frequency: 8/8. (PMID:12110406)
- Round face (HP:0000311): The facial appearance is more circular than usual as viewed from the front. Evidence: TAS. (OMIM:610682)
- Breech presentation (HP:0001623): A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first. Evidence: TAS. (OMIM:610682)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 0/8. (PMID:12110406)
- Hypoplastic pulmonary veins (HP:0005304). Evidence: TAS. (OMIM:610682)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 4/5. (PMID:12110406)
- Delayed cranial suture closure (HP:0000270): Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age. Evidence: TAS. (OMIM:610682)
- Blue sclerae (HP:0000592): An abnormal bluish coloration of the sclera. Evidence: PCS. Frequency: 8/8. (PMID:12110406)
- Wide cranial sutures (HP:0010537): An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure). Evidence: TAS. (OMIM:610682)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: TAS. (OMIM:610682)
- 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: TAS. (OMIM:610682)
- Multiple rib fractures (HP:0006640): More than one fracture of the ribs. Callus formation around multiple rib fractures can produce a row of multiple rounded expansions (beadlike prominences) giving the appearance of beaded ribs. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib. Evidence: TAS. (OMIM:610682)
- Dentinogenesis imperfecta (HP:0000703): Developmental dysplasia of dentin. Evidence: PCS. Frequency: 0/8. (PMID:12110406)
- Crumpled long bones (HP:0006367): An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta. Evidence: TAS. (OMIM:610682)
- 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: PCS. Frequency: 2/4. (PMID:12110406)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: TAS. (OMIM:610682)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: TAS. (OMIM:610682)
- Multiple prenatal fractures (HP:0005855): The presence of bone fractures in the prenatal period that are diagnosed at birth or before. Evidence: IEA. Frequency: 4/4. (OMIM:610682)
These phenotypes are associated with the disease osteogenesis imperfecta type 7 (OMIM:610682).