Features

Natural History

Major Features

• Dysphagia / Feeding difficulty / Gastrostomy tube (g-tube) (95%)
• Postnatal short stature (97%)
• Characteristic facial features (98%)
• Thick lips (95%)
• Loose skin (94%)
• Abnormal palmar skin creases (99%)
• DD (developmental delay) / MR (mental retardation) (100%)

Unique Features

• * Congenital heart problems (65%) including pulmonic stenosis (20%), hypertrophic cardiomyopathy (40%) and atrial tachycardia (30%)
• * Benign (44%) and malignant tumors (16%)
• * Characteristic facial features with large mouth (78%)
• Stretchy skin with hyperpigmentation
• Kyphoscoliosis
• Engaging personality
• Curly hair
• Normal head circumference

Other Features

• Polyhydramnios (62%)
• Birth weight >50%
• Hernias (50%)
• Vision problems - ptosis and strabismus

Life-threatening complications
Cardiac arrhythmia Hypertrophic cardiomyopathy Malignancy

[1205-092506] Costello Syndrome Family Network (CSFN) Lisa Schoyer, President

Infants (<1year)

Polyhydramnios
Fetal distress
C-section (Cesarean section)
LGA (large for gestational age)
Feeding problems and
hypotonia
Gastrostomy tube (g-tube)
in the first 4 years
FTT (failure to thrive)
Growth delay in weight and
length but with normal head
circumference Motor delays

Toddlers (1-3 years)

Distinctive facial features,

broad mouth
Loose, lax skin,
soft, deep wrinkles
abnormal creases
in palms and soles
S tretchy skin,
loose joints
Hernias
hypertrophic cardiomyopathy
Arrhythmia,
especially atrial tachycardia
Strabismus
ptosis Malignancy
DD(developmental delay)

Children (4-12 years)
Short stature
Distinctive facial features
with broad mouth and
thick lips
Kyphoscoliosis,
cervical kyphosis
Remarkably pleasant,
sociable, humorous and
easy-going personality

Adolescents/Adults

Coarse classic facial
features
Thicker, often curly hair
Nasal fibromata
Breast papilloma
Hyperkeratosis,
hyperpigmentation
Short stature
Skeletal and orthopedic
problems
DD (developmental delay)
MR (mental retardation)