Overview
Roifman Chitayat syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal T cell subset distribution
Frequent (30-79%)HP:0025540
Abnormality of the chin
Frequent (30-79%)HP:0000306
Anomalous origin of the right subclavian artery from the descending aorta
Frequent (30-79%)HP:0031632
Ataxia
Frequent (30-79%)HP:0001251
B cell lymphopenia
Frequent (30-79%)HP:0010976
Broad flat nasal bridge
Frequent (30-79%)HP:0000431
Broad middle phalanges of finger
Frequent (30-79%)HP:0009844
Broad, upturned nose
Frequent (30-79%)HP:0000455
Chronic oral thrush
Frequent (30-79%)HP:0009098
Clinodactyly of the 2nd finger
Frequent (30-79%)HP:0040022
Clinodactyly of the 3rd finger
Frequent (30-79%)HP:0040024
Clinodactyly of the 4th finger
Frequent (30-79%)HP:0040025
Combined immunodeficiency
Frequent (30-79%)HP:0005387
Concave bridge of nose
Frequent (30-79%)HP:0005280
Cone-shaped epiphyses
Frequent (30-79%)HP:0010579
Decreased anti-CD3/28-induced T-cell proliferation
Frequent (30-79%)HP:0031382
Decreased circulating total IgG concentration
Frequent (30-79%)HP:0032132
Decreased circulating total IgM
Frequent (30-79%)HP:0002850
Decreased mitogen-induced T-cell proliferation
Frequent (30-79%)HP:0031381
Decreased proportion of CD4-positive T cells
Frequent (30-79%)HP:0032218
Decreased serum immunoglobulin
Frequent (30-79%)HP:0004313
Decreased specific antibody response to vaccination
Frequent (30-79%)HP:0032140
Decreased total IgA in blood
Frequent (30-79%)HP:0003460
Deep set eye
Frequent (30-79%)HP:0000490
Dermatochalasis
Frequent (30-79%)HP:0010750
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Gastro-esophageal reflux
Frequent (30-79%)HP:0002020
Generalized myoclonic seizure
Frequent (30-79%)HP:0002123
High forehead
Frequent (30-79%)HP:0000348
Hypertrichosis
Frequent (30-79%)HP:0000998
Related Conditions
Combined immunodeficiency disease(parent)
Congenital atrophy of optic nerve(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Hereditary disorder of musculoskeletal system(parent)
Congenital immunodeficiency disease(parent)
Hereditary disorder of immune system(parent)
Recessive hereditary disorder (autosomal)(parent)
Congenital anomaly of skeletal bone(parent)
Congenital anomaly of optic nerve(parent)
Congenital degeneration of nervous system(parent)
Inherited optic neuropathy(parent)
Hereditary degenerative disease of central nervous system(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 770625006
- UMLS CUI
- C2750068
- Fully Specified Name
- Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.