Overview
Keutel 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.
Increased width of bridge of nose
Always present (100%)HP:0000431
Shortening of all outermost bones of the fingers
Always present (100%)HP:0006118
Calcification of cartilage
Very frequent (80-99%)HP:0100593
Concave bridge of nose
Very frequent (80-99%)HP:0005280
Distal phalangeal hypoplasia
Very frequent (80-99%)HP:0009882
Hypotrophic midface
Very frequent (80-99%)HP:0011800
Increased nasal width
Very frequent (80-99%)HP:0000445
Pulmonary artery stenosis
Very frequent (80-99%)HP:0004415
Tracheal atresia
Very frequent (80-99%)HP:0100682
Vertical enlargement of face
Very frequent (80-99%)HP:0000276
Hearing impairment
Frequent (30-79%)HP:0000365
Mental retardation, mild
Frequent (30-79%)HP:0001256
Primary pulmonary hypertension
Frequent (30-79%)HP:0002092
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Recurrent middle ear infection
Frequent (30-79%)HP:0000403
Recurrent sinus disease
Frequent (30-79%)HP:0011108
respiratory infections, recurrent
Frequent (30-79%)HP:0002205
Sloping forehead
Frequent (30-79%)HP:0000340
Small nasal alae
Frequent (30-79%)HP:0000430
VSD
Frequent (30-79%)HP:0001629
Decreased body height
Occasional (5-29%)HP:0004322
Hair loss
Occasional (5-29%)HP:0001596
Optic atrophy
Occasional (5-29%)HP:0000648
Seizures
Occasional (5-29%)HP:0001250
Skin degeneration
Occasional (5-29%)HP:0004334
Soft, doughy skin
Occasional (5-29%)HP:0001027
Abnormal deposits of calcium in the brain
HP:0002514
Bronchitis, recurrent
HP:0002837
Calcification of the trachea
HP:0002787
Cartilaginous ossification of larynx
HP:0008747
Related Conditions
Multiple malformation syndrome with facial-limb defects as major feature(parent)
Brachydactyly(parent)
Recessive hereditary disorder (autosomal)(parent)
Chondrocalcinosis(parent)
Cardiovascular system hereditary disorder(parent)
Connective tissue hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Congenital peripheral pulmonary artery stenosis(parent)
Congenital anomaly of cartilage(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 724208006
- UMLS CUI
- C1855607
- Fully Specified Name
- Keutel 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.