Overview
Houlston Ironton Temple 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.
Albinism, Ocular
Very frequent (80-99%)HP:0001107
Blepharophimosis
Very frequent (80-99%)HP:0000581
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Heart septal defect
Very frequent (80-99%)HP:0001671
Intrauterine growth retardation, IUGR
Very frequent (80-99%)HP:0001511
absence of radius and ulna
Frequent (30-79%)HP:0003974
Absent anus
Frequent (30-79%)HP:0002023
Anteriorly displaced anus
Frequent (30-79%)HP:0001545
Aplasia of the 1st metacarpal
Frequent (30-79%)HP:0010035
Aplastic/hypoplastic thumbs
Frequent (30-79%)HP:0009601
Broad flat nasal bridge
Frequent (30-79%)HP:0000431
Capuchin ears
Frequent (30-79%)HP:0000378
Curvature of little finger
Frequent (30-79%)HP:0004209
Decreased projection of lower jaw
Frequent (30-79%)HP:0000347
Hearing abnormality
Frequent (30-79%)HP:0000364
Involuntary jerking movements
Frequent (30-79%)HP:0001336
Microtia
Frequent (30-79%)HP:0008551
Mongoloid slant
Frequent (30-79%)HP:0000582
Nanophthalmos
Frequent (30-79%)HP:0000568
Short ulna
Frequent (30-79%)HP:0003022
Squint
Frequent (30-79%)HP:0000486
Urogenital abnormalities
Frequent (30-79%)HP:0000119
Related Conditions
Congenital anomaly of anus(parent)
Multiple malformation syndrome with limb defect as major feature(parent)
Congenital anomaly of upper limb(parent)
Recessive hereditary disorder (autosomal)(parent)
Congenital blepharophimosis(parent)
Cardiovascular system hereditary disorder(parent)
Hereditary disorder of the visual system(parent)
Digestive system hereditary disorder(parent)
Developmental hereditary disorder(parent)
Congenital atrioventricular septal defect(parent)
Quick Facts
- SNOMED CT
- 763066009
- UMLS CUI
- C4706259
- Fully Specified Name
- Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 22
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.