Traits

Traits linked to SMAD2

SMAD family member 2

The Human Phenotype Ontology links 130 traits to SMAD2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Always
Aortic valve has two leaflets rather than three	Always
Arterial tortuosity	Always
Narrowing of pulmonic valve	Always
Patent ductus arteriosus	Always
Truncus arteriosus	Always
Aneurysm	Very often (80–99%)
Arterial dissection	Very often (80–99%)
Bulge in wall of large artery that carries blood away from heart	Very often (80–99%)
Cutis marmorata	Very often (80–99%)
Double outlet right ventricle	Very often (80–99%)
Mucoid extracellular matrix accumulation	Very often (80–99%)
Tear in inner wall of large artery that carries blood away from heart	Very often (80–99%)
Abnormal left ventricular function	Often (30–79%)
Anomalous pulmonary venous return	Often (30–79%)
Aortic regurgitation	Often (30–79%)
Ascending aortic dissection	Often (30–79%)
Carotid artery dilatation	Often (30–79%)
Descending aortic dissection	Often (30–79%)
Dextrotransposition of the great arteries	Often (30–79%)
Enlarged heart	Often (30–79%)
Heart tip and four chambers point towards right side of body	Often (30–79%)
High blood pressure	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Left superior vena cava draining directly to the left atrium	Often (30–79%)
Partial anomalous pulmonary venous return	Often (30–79%)
Plaque build-up in arteries supplying blood to heart	Often (30–79%)
Thoracic aortic aneurysm	Often (30–79%)
Unbalanced atrioventricular canal defect	Often (30–79%)
Varicose veins	Often (30–79%)
Ventricular hypertrophy	Often (30–79%)
Vertebral artery aneurysm	Often (30–79%)
Abdominal aortic aneurysm	Sometimes (5–29%)
Absent spleen	Sometimes (5–29%)
Brain aneurysm	Sometimes (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Sometimes (5–29%)
Carotid artery dissection	Sometimes (5–29%)
Depleted blood volume	Sometimes (5–29%)
Descending thoracic aorta aneurysm	Sometimes (5–29%)
Heart stops beating	Sometimes (5–29%)
Ischemic stroke	Sometimes (5–29%)
Mini stroke	Sometimes (5–29%)
Mitral atresia	Sometimes (5–29%)
Mitral regurgitation	Sometimes (5–29%)
Peripheral arterial stenosis	Sometimes (5–29%)
Persistent left superior vena cava	Sometimes (5–29%)
Pulmonary valve atresia	Sometimes (5–29%)
Stroke	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Long face	Always
Midface retrusion	Always
Only one upper front tooth	Always
Bifid uvula	Often (30–79%)
Broad forehead	Often (30–79%)
Cleft of the mouth	Often (30–79%)
Cleft palate	Often (30–79%)
Deformity of the skull	Often (30–79%)
Dental crowding	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
High palate	Often (30–79%)
Little lower jaw	Often (30–79%)
Short nose	Often (30–79%)
Zygomatic flattening	Often (30–79%)
Broad uvula	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
High, narrow palate	Sometimes (5–29%)
Long, narrow head	Sometimes (5–29%)
Receding chin	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Degenerative joint disease	Always
Abnormality of connective tissue	Very often (80–99%)
Double-Jointed	Often (30–79%)
Hip osteoarthritis	Often (30–79%)
Intervertebral disk degeneration	Often (30–79%)
Scoliosis	Often (30–79%)
Abnormality of the sternum	Sometimes (5–29%)
Congenital diaphragmatic hernia	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Joint dislocation	Sometimes (5–29%)
Pigeon chest	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Dropped arches	Very often (80–99%)
Club feet	Often (30–79%)
Fused toes	Often (30–79%)
Knee osteoarthritis	Often (30–79%)
Long slender fingers	Often (30–79%)
Permanent flexion of the finger	Often (30–79%)
Single transverse palmar crease	Often (30–79%)
Bilateral single transverse palmar creases	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Exertional breathlessness	Often (30–79%)
Paroxysmal dyspnea	Often (30–79%)
Softening of voice box tissue	Often (30–79%)
Collapsed lung	Sometimes (5–29%)
Coughing up blood	Sometimes (5–29%)
Spontaneous collapsed lung	Sometimes (5–29%)
Subglottic stenosis	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Meckel diverticulum	Always
Abdominal situs ambiguus	Often (30–79%)
Inguinal hernia	Often (30–79%)
Umbilical hernia	Often (30–79%)
Eosinophilic infiltration of the esophagus	Sometimes (5–29%)
Intestinal malrotation	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Lateral ventricle dilatation	Always
Global developmental delay	Often (30–79%)
Migraine	Often (30–79%)
Dural ectasia	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Always
Faltering weight	Often (30–79%)
Tall stature	Often (30–79%)
Disproportionate tall stature	Sometimes (5–29%)
Isomerism	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormality of the iris	Often (30–79%)
Blue outer white part of eyeball	Often (30–79%)
Wide-set eyes	Often (30–79%)
Close sighted	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Atypical scarring of skin	Often (30–79%)
Stretch marks	Often (30–79%)
Dermal translucency	Sometimes (5–29%)
Thin skin	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bruising susceptibility	Often (30–79%)
Bleeding tendency	Sometimes (5–29%)
Subarachnoid hemorrhage	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Chest pain	Often (30–79%)
Chronic fatigue	Often (30–79%)
Joint pain	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Often (30–79%)
Low-set ears	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Ectopic posterior pituitary	Always
Underdeveloped pituitary gland	Always

Abnormality of the immune system

Trait	How often it is seen
Asthma	Often (30–79%)
Eczema	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Uterine rupture	Very often (80–99%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to SMAD2 and how often each is seen. Find out more at hpo.jax.org.

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