- Failure to thrive in infancy (HP:0001531, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 2/2. (PMID:22127713)
- Pustule (HP:0200039, a Human Phenotype Ontology term): A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells. Evidence: PCS. Frequency: 9/9. Onset: Neonatal onset (HP:0003623, a Human Phenotype Ontology term). (PMID:19494218)
- Pustule (HP:0200039, a Human Phenotype Ontology term): A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells. Evidence: PCS. Frequency: 1/1. Onset: Neonatal onset (HP:0003623, a Human Phenotype Ontology term). (PMID:19494219)
- Pustule (HP:0200039, a Human Phenotype Ontology term): A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells. Evidence: PCS. Frequency: 2/2. Onset: Neonatal onset (HP:0003623, a Human Phenotype Ontology term). (PMID:22127713)
- Pustule (HP:0200039, a Human Phenotype Ontology term): A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells. Evidence: PCS. Frequency: 1/1. (PMID:32819369)
- Hepatomegaly (HP:0002240, a Human Phenotype Ontology term): Abnormally increased size of the liver. Evidence: TAS. (OMIM:612852)
- Motor delay (HP:0001270, a Human Phenotype Ontology term): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 2/2. (PMID:22127713)
- Increased total neutrophil count (HP:0011897, a Human Phenotype Ontology term): Abnormal increase of absolute number of neutrophils in the blood, per microliter, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 1/1. (PMID:32819369)
- Osteopenia (HP:0000938, a Human Phenotype Ontology term): 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: PCS. Frequency: 1/1. (PMID:19494219)
- Fetal distress (HP:0025116, a Human Phenotype Ontology term): An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile. Evidence: PCS. Frequency: 5/9. Onset: Fetal onset (HP:0011461, a Human Phenotype Ontology term). (PMID:19494218)
- Osteolysis (HP:0002797, a Human Phenotype Ontology term): Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. Evidence: PCS. Frequency: 11/12. (PMID:22127713;PMID:19494219;PMID:19494218)
- Splenomegaly (HP:0001744, a Human Phenotype Ontology term): Abnormal increased size of the spleen. Evidence: TAS. (OMIM:612852)
- Abscess (HP:0025615, a Human Phenotype Ontology term): An abscess is a localized collection of purulent material surrounded by inflammation and granulation. Evidence: PCS. Frequency: 2/2. (PMID:22127713)
- Neonatal onset (HP:0003623, a Human Phenotype Ontology term): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 12/12. (PMID:22127713;PMID:19494219;PMID:19494218)
- Osteomyelitis (HP:0002754, a Human Phenotype Ontology term): Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. Evidence: PCS. Frequency: 8/9. (PMID:19494218)
- Osteomyelitis (HP:0002754, a Human Phenotype Ontology term): Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. Evidence: PCS. Frequency: 2/2. (PMID:22127713)
- Osteomyelitis (HP:0002754, a Human Phenotype Ontology term): Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593, a Human Phenotype Ontology term). (PMID:32819369)
- Elevated erythrocyte sedimentation rate (HP:0003565, a Human Phenotype Ontology term): An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. Evidence: PCS. Frequency: 3/3. (PMID:22127713;PMID:32819369)
- Joint swelling (HP:0001386, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 9/9. (PMID:19494218)
- Respiratory distress (HP:0002098, a Human Phenotype Ontology term): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: PCS. Onset: Neonatal onset (HP:0003623, a Human Phenotype Ontology term). (PMID:19494218)
- Epidermal acanthosis (HP:0025092, a Human Phenotype Ontology term): Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin). Evidence: PCS. Frequency: 3/3. (PMID:19494219;PMID:19494218)
- Elevated circulating C-reactive protein concentration (HP:0011227, a Human Phenotype Ontology term): The concentration of C-reactive protein in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 4/4. (PMID:22127713;PMID:19494219;PMID:32819369)
- Stomatitis (HP:0010280, a Human Phenotype Ontology term): Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth. Evidence: TAS. (OMIM:612852)
- Arthralgia (HP:0002829, a Human Phenotype Ontology term): Joint pain. Evidence: PCS. (PMID:19494218)
- Periostitis (HP:0040165, a Human Phenotype Ontology term): Inflammation of the periosteum. Evidence: PCS. (PMID:19494218)
- Flaring of rib cage (HP:0000904, a Human Phenotype Ontology term): The presence of wide, concave anterior rib ends. Evidence: PCS. Frequency: 1/1. (PMID:19494219)
- Fused cervical vertebrae (HP:0002949, a Human Phenotype Ontology term): A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another. Evidence: PCS. Frequency: 4/8. (PMID:19494218)
- 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:19494218)
- Skin rash (HP:0000988, a Human Phenotype Ontology term): A red eruption of the skin. Evidence: PCS. Frequency: 1/1. (PMID:32819369)
- Pulmonary fibrosis (HP:0002206, a Human Phenotype Ontology term): Replacement of normal lung tissues by fibroblasts and collagen. Evidence: PCS. Frequency: 1/9. (PMID:19494218)
- Broad ribs (HP:0000885, a Human Phenotype Ontology term): Increased width of ribs. Evidence: PCS. Frequency: 9/9. (PMID:19494218)
- Hyperkeratosis (HP:0000962, a Human Phenotype Ontology term): Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes. Evidence: PCS. Frequency: 2/2. (PMID:19494218)
These phenotypes are associated with the disease sterile multifocal osteomyelitis with periostitis and pustulosis (OMIM:612852, an entry in Online Mendelian Inheritance in Man).