Phenotypes associated with the disease hyper-IgE recurrent infection syndrome 4, autosomal recessive (OMIM:618523, an entry in Online Mendelian Inheritance in Man):
- Scaphocephaly (HP:0030799, a Human Phenotype Ontology term): Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis. Evidence: PCS. Frequency: 1/1. (PMID:30309848)
- Increased total eosinophil count (HP:0001880, a Human Phenotype Ontology term): Increased count of eosinophils in the blood. Evidence: PCS. Frequency: 2/2. (PMID:28747427;PMID:30309848)
- Craniosynostosis (HP:0001363, a Human Phenotype Ontology term): Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. Evidence: PCS. Frequency: 1/1. (PMID:28747427)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/1. (PMID:28747427)
- Increased circulating IgE concentration (HP:0003212, a Human Phenotype Ontology term): An abnormally increased overall level of immunoglobulin E in blood. Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593, a Human Phenotype Ontology term). (PMID:30309848)
- Increased circulating IgE concentration (HP:0003212, a Human Phenotype Ontology term): An abnormally increased overall level of immunoglobulin E in blood. Evidence: PCS. Frequency: 1/1. (PMID:28747427)
- Keratitis (HP:0000491, a Human Phenotype Ontology term): Inflammation of the cornea. Evidence: PCS. Frequency: 1/1. (PMID:30309848)
- Bronchiectasis (HP:0002110, a Human Phenotype Ontology term): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593, a Human Phenotype Ontology term). (PMID:28747427)
- Arthropathy (HP:0003040, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/1. (PMID:30309848)
- Neurodevelopmental delay (HP:0012758, a Human Phenotype Ontology term): Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems. Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593, a Human Phenotype Ontology term). (PMID:30309848)
- Joint contracture of the hand (HP:0009473, a Human Phenotype Ontology term): Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. Evidence: PCS. Frequency: 1/1. (PMID:30309848)
- Hip dislocation (HP:0002827, a Human Phenotype Ontology term): Displacement of the femur from its normal location in the hip joint. Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593, a Human Phenotype Ontology term). (PMID:30309848)
- Food allergy (HP:0500093, a Human Phenotype Ontology term): Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods. Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593, a Human Phenotype Ontology term). (PMID:30309848)
- 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:30309848)
- Recurrent otitis media (HP:0000403, a Human Phenotype Ontology term): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 1/1. (PMID:30309848)
- Clubbing (HP:0001217, a Human Phenotype Ontology term): Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails. Evidence: PCS. Frequency: 1/1. (PMID:30309848)
- Dental crowding (HP:0000678, a Human Phenotype Ontology term): Changes in alignment of teeth in the dental arch. Evidence: PCS. Frequency: 1/1. (PMID:30309848)
- Eczematoid dermatitis (HP:0000964, a Human Phenotype Ontology term): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: PCS. Frequency: 1/1. (PMID:30309848)
- Eczematoid dermatitis (HP:0000964, a Human Phenotype Ontology term): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: PCS. Frequency: 1/1. Onset: Childhood onset (HP:0011463, a Human Phenotype Ontology term). (PMID:28747427)
- Thoracolumbar scoliosis (HP:0002944, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/1. (PMID:30309848)
- Macroglossia (HP:0000158, a Human Phenotype Ontology term): Increased length and width of the tongue. Evidence: PCS. Frequency: 1/1. (PMID:30309848)
- Recurrent respiratory infections (HP:0002205, a Human Phenotype Ontology term): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 1/1. (PMID:30309848)
- Recurrent respiratory infections (HP:0002205, a Human Phenotype Ontology term): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593, a Human Phenotype Ontology term). (PMID:28747427)
- Chronic diarrhea (HP:0002028, a Human Phenotype Ontology term): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: PCS. Frequency: 1/1. (PMID:30309848)