Phenotypes associated with the disease facial dysmorphism-immunodeficiency-livedo-short stature syndrome (OMIM:615139):
- Decreased circulating IgM concentration (HP:0002850): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: PCS. Frequency: 14/14. (PMID:23230001)
- Bone pain (HP:0002653): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: PCS. Frequency: 3/14. (PMID:23230001)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. (PMID:23230001)
- 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: PCS. Frequency: 12/13. (PMID:23230001)
- Recurrent lower respiratory tract infections (HP:0002783): An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. Evidence: PCS. Frequency: 11/14. (PMID:23230001)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 2/14. (PMID:23230001)
- Malar flattening (HP:0000272): Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. Evidence: PCS. Frequency: 11/14. (PMID:23230001)
- 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. (PMID:23230001)
- Metaphyseal striations (HP:0031367): Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis). Evidence: PCS. Frequency: 1/14. (PMID:23230001)
- Livedo (HP:0033832): A reddish-blue mottled condition of skin caused by inflammation of the cutaneous blood vessels. Evidence: PCS. Frequency: 10/14. (PMID:23230001)
- 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:23230001)
- Broad forehead (HP:0000337): Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. Evidence: PCS. Frequency: 11/14. (PMID:23230001)
- Telangiectases of the cheeks (HP:0007421): Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks. Evidence: PCS. Frequency: 11/14. (PMID:23230001)
- Recurrent upper respiratory tract infections (HP:0002788): An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). Evidence: PCS. Frequency: 11/14. (PMID:23230001)
- Immunodeficiency (HP:0002721): Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. Evidence: PCS. Frequency: 12/14. (PMID:23230001)