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Costello syndrome

disorder
SNOMED 309776008CUI C0587248

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormality of the fingernails
Very frequent (80-99%)HP:0001231
Acanthosis nigricans
Very frequent (80-99%)HP:0000956
Big calvaria
Very frequent (80-99%)HP:0000256
Concave nail
Very frequent (80-99%)HP:0001598
Decreased body height
Very frequent (80-99%)HP:0004322
Deep-set nails
Very frequent (80-99%)HP:0001814
Dermatopathy
Very frequent (80-99%)HP:0000951
Epidermal hyperkeratosis
Very frequent (80-99%)HP:0000962
Eye drop
Very frequent (80-99%)HP:0000508
Failure to thrive in first year of life
Very frequent (80-99%)HP:0001531
Feeding difficulties in infancy
Very frequent (80-99%)HP:0008872
Flat nasal bridge
Very frequent (80-99%)HP:0005280
Kinky hair texture
Very frequent (80-99%)HP:0002224
Lack of skin elasticity
Very frequent (80-99%)HP:0100679
Loose redundant skin
Very frequent (80-99%)HP:0001582
Narrow palate
Very frequent (80-99%)HP:0000189
Pulmonary stenosis
Very frequent (80-99%)HP:0001642
Retarded ossification
Very frequent (80-99%)HP:0002750
Short neck
Very frequent (80-99%)HP:0000470
VSD
Very frequent (80-99%)HP:0001629
Abnormal curving of the cornea or lens of the eye
Frequent (30-79%)HP:0000483
Abnormal dermatoglyphics
Frequent (30-79%)HP:0007477
Cardiomyopathy, hypertrophic
Frequent (30-79%)HP:0001639
Cerebral cortex atrophy
Frequent (30-79%)HP:0002120
Cryptorchidism
Frequent (30-79%)HP:0000028
Defective tooth enamel
Frequent (30-79%)HP:0000682
Full lower lip
Frequent (30-79%)HP:0000179
Gastro-esophageal reflux
Frequent (30-79%)HP:0002020
Hypoplastic toenails
Frequent (30-79%)HP:0001800
Increased amniotic fluid index
Frequent (30-79%)HP:0001561

Quick Facts

SNOMED CT
309776008
UMLS CUI
C0587248
Fully Specified Name
Costello 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.