Growth
Intrauterine growth restriction (IUGR), short stature, obesity.
Craniofacial
Sparse and fine hair, bushy eyebrows, narrow palpebral fissures, prominent nasal root, midface hypoplasia, maxillary hypoplasia, short philtrum, thin vermilion of the upper lip, narrow mouth, small and/or widely spaced teeth, prognathism, small and low-set ears, deafness, short neck.
Cardiovascular
Congenital heart defects (septal defects), obstructive heart defects (aortic stenosis, aortic coarctation), pericardial disease (effusion and/or fibrosis), hypertension (systemic and/or pulmonary).
Respiratory
Laryngotracheal stenosis, respiratory failure, sleep apnea.
Genitourinary
Cryptorchidism, hypospadias, menstrual abnormality, precocious puberty.
Gastrointestinal
Poor feeding in infancy, constipation, dysphagia, gastroesophageal reflux disease.
Musculoskeletal
Generalized muscle hypertrophy, broad ribs, decreased joint mobility, thickened calvarium, platyspondyly, vertebral fusions, scoliosis, hypoplastic iliac wings, short long bones, cone-shaped epiphyses, brachydactyly, clinodactyly, camptodactyly, overlapping toes.
Cutaneous
Thickened and stiff skin, keloid-like scars.
Neurobehavioral
Mild-to-moderate intellectual disability (ID) and developmental delay (DD), seizures, autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD).
Neoplasia
While only a small number of patients have been reported with neoplasia, the increased risk of developing neoplasia in MYHRS remains unclear.
Causes of death
Multi-level airway stenosis, complex congenital heart disease (CHD), multiple left ventricular outflow tract obstructions (LVOTO), severe pericardial fibrosis, pulmonary hypertension.
SMAD4