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King Denborough syndrome

disorder
SNOMED 764957003CUI C1840365

Overview

King Denborough 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.

Bilateral ptosis
Always present (100%)HP:0001488
Broad, upturned nose
Always present (100%)HP:0000455
Cobb angle greater than ten degrees
Always present (100%)HP:0002650
Cryptorchidism, bilateral
Always present (100%)HP:0008689
Decreased projection of midface
Always present (100%)HP:0011800
Delayed ability to walk
Always present (100%)HP:0031936
Depressed philtrum
Always present (100%)HP:0002002
Feet or buttocks of fetus positioned near opening of uterus
Always present (100%)HP:0001623
High arched palate
Always present (100%)HP:0000218
Kyphoscoliosis
Always present (100%)HP:0002751
Less than 10 fetal movements in 12 hours
Always present (100%)HP:0001558
Muscle fiber atrophy
Always present (100%)HP:0100295
Myopathic facial appearance
Always present (100%)HP:0002058
Poor weight gain
Always present (100%)HP:0001508
Proximal limb muscle weakness
Always present (100%)HP:0003701
Rounded columella
Always present (100%)HP:0009765
Scaphocephaly
Always present (100%)HP:0030799
Thoracic kyphosis
Always present (100%)HP:0002942
VSD
Always present (100%)HP:0001629
Weakness of face
Always present (100%)HP:0030319
Central hypotonia
Very frequent (80-99%)HP:0001252
Eyelid ptosis
Very frequent (80-99%)HP:0000508
Increased lumbar lordosis
Very frequent (80-99%)HP:0002938
Central nuclei
Frequent (30-79%)HP:0003687
Cryptorchidism
Frequent (30-79%)HP:0000028
Decreased body height
Frequent (30-79%)HP:0004322
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Elevated circulating creatine phosphokinase
Frequent (30-79%)HP:0003236
Increased distance between eyes
Frequent (30-79%)HP:0000316
Joint ligamentous laxity
Frequent (30-79%)HP:0001382

Related Conditions

Autosomal dominant hereditary disorder(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Congenital anomaly of skeletal muscle(parent)
Hereditary disorder of musculoskeletal system(parent)
Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT
764957003
UMLS CUI
C1840365
Fully Specified Name
King Denborough 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.