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Costello syndrome (CS)
Costello syndrome is a rare condition that affects multiple parts of the body. It often causes developmental delays, intellectual disability, distinctive facial features, loose skin on the hands and feet, and flexible joints
Prevalence
0.1/100,000
150–300
US Estimated
250–500
Europe Estimated
Age of Onset
ICD-10
Q87.1
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
5 Facts you should know
FACT
Musculoskeletal abnormalities are common and include joint laxity, ulnar deviation of the wrists, scoliosis, and tight Achilles tendons, which may lead to delayed motor milestones and require orthopedic intervention
FACT
Characteristic craniofacial features include coarse facial appearance, full lips, nasal papillomas, and macrocephaly, often accompanied by loose, soft skin and deep palmar/plantar creases
FACT
Feeding difficulties, failure to thrive, and developmental delay are common early signs, with most children requiring nutritional support in infancy
FACT
Cardiac abnormalities are frequent, particularly hypertrophic cardiomyopathy, arrhythmias (especially multifocal atrial tachycardia), and structural defects such as pulmonary valve stenosis
FACT
There is an elevated risk of malignancy, especially rhabdomyosarcoma, neuroblastoma, and transitional cell carcinoma of the bladder, requiring ongoing surveillance throughout childhood
Interest over time
Google searches
Common signs and symptoms
Coarse facial features
Loose skin, especially on hands and feet
Delayed growth and motor development
Feeding difficulties in infancy
Curly, sparse, or fine hair
Intellectual disability
Heart problems
Musculoskeletal issues
Current treatments
There is no cure, but care is supportive and multidisciplinary:
Cardiology
Monitor and treat heart defects
Feeding therapy
Especially in early years
Orthopedics/Physical therapy
For joint and skeletal issues
Dermatology & ENT
For skin and airway issues
Oncology monitoring
Due to increased tumor risk