Indication
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation, Screening
While the majority of individuals with Costello syndrome share characteristic findings affecting multiple organ systems, the phenotypic spectrum is wide, ranging from a milder or attenuated phenotype to a severe phenotype with early lethal complications. Costello syndrome is typically characterized by failure to thrive in infancy as a result of severe postnatal feeding difficulties; short stature; developmental delay or intellectual disability; coarse facial features (full lips, large mouth, full nasal tip); curly or sparse, fine hair; loose, soft skin with deep palmar and plantar creases; papillomata of the face and perianal region; diffuse hypotonia and joint laxity with ulnar deviation of the wrists and fingers; tight Achilles tendons; and cardiac involvement including: cardiac hypertrophy (usually typical hypertrophic cardiomyopathy), congenital heart defect (usually valvar pulmonic stenosis), and arrhythmia (usually supraventricular tachycardia, especially chaotic atrial rhythm/multifocal atrial tachycardia or ectopic atrial tachycardia). Relative or absolute macrocephaly is typical, and postnatal cerebellar overgrowth can result in the development of a Chiari I malformation with associated anomalies including hydrocephalus or syringomyelia. Individuals with Costello syndrome have an approximately 15% lifetime risk for malignant tumors including rhabdomyosarcoma and neuroblastoma in young children and transitional cell carcinoma of the bladder in adolescents and young adults.
- Acanthosis nigricans
- Cardiac arrhythmia
- Ptosis
- Hypertrophic cardiomyopathy
- Talipes equinovarus
- Sudden death
- Atrial septal defect
- Ventricular septal defect
- Hoarse voice
- Polyhydramnios
- Hydrocephalus
- Hypertelorism
- Hypoglycemia
- Lymphangiectasis
- Macroglossia
- Micrognathia
- Mitral valve prolapse
- Vestibular schwannoma
- Nevus
- Pneumothorax
- Respiratory insufficiency
- Rhabdomyosarcoma
- Strabismus
- Premature birth
- Pectus carinatum
- Hyperpigmentation of the skin
- Webbed neck
- Concave nail
- Cerebral atrophy
- Low-set ears
- High palate
- Barrel-shaped chest
- Bronchomalacia
- Short stature
- Achilles tendon contracture
- Downslanted palpebral fissures
- Thin nail
- Posteriorly rotated ears
- Obstructive sleep apnea syndrome
- Short neck
- Global developmental delay
- Curly hair
- Epicanthus
- Urinary bladder carcinoma
- Congenital hypertrophic pyloric stenosis
- Chiari type I malformation
- Tracheomalacia
- Respiratory failure
- Renal insufficiency
- Depressed nasal bridge
- Poor suck
- Thick lower lip vermilion
- Anteverted nares
- Redundant neck skin
- Pointed chin
- Hyperextensibility of the finger joints
- Coarse facial features
- Overgrowth
- Limited elbow movement
- Fragile nails
- Deep palmar crease
- Deep plantar creases
- Wide anterior fontanel
- Full cheeks
- Pulmonic stenosis
- Macrocephaly
- Failure to thrive
- Deep-set nails
- Enlarged cerebellum
- Ventriculomegaly
- Intellectual disability
- Sparse hair
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