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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
Columella extends below the ala nasi
Always present (100%)HP:0009765
Cryptorchidism, bilateral
Always present (100%)HP:0008689
Decreased fetal movement
Always present (100%)HP:0001558
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
Hypotrophic midface
Always present (100%)HP:0011800
Kyphoscoliosis
Always present (100%)HP:0002751
Muscle fiber atrophy
Always present (100%)HP:0100295
Myopathic facial appearance
Always present (100%)HP:0002058
Proximal neurogenic muscle weakness
Always present (100%)HP:0003701
Scaphocephaly
Always present (100%)HP:0030799
Scoliosis
Always present (100%)HP:0002650
Thoracic kyphosis
Always present (100%)HP:0002942
Undergrowth
Always present (100%)HP:0001508
VSD
Always present (100%)HP:0001629
Weakness of face
Always present (100%)HP:0030319
Eyelid ptosis
Very frequent (80-99%)HP:0000508
Increased lumbar lordosis
Very frequent (80-99%)HP:0002938
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Central nuclei
Frequent (30-79%)HP:0003687
Cryptorchidism
Frequent (30-79%)HP:0000028
Decreased body height
Frequent (30-79%)HP:0004322
Delayed motor milestones
Frequent (30-79%)HP:0001270
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

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.