Traits

Traits linked to SMAD4

SMAD family member 4

The Human Phenotype Ontology links 235 traits to SMAD4, 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
Collection of dilated blood vessels that forms mass	Always
Cutis marmorata	Very often (80–99%)
Mucoid extracellular matrix accumulation	Very often (80–99%)
Mucosal telangiectasiae	Very often (80–99%)
Spider veins	Very often (80–99%)
Telangiectasia of the skin	Very often (80–99%)
Abnormal cardiac septum morphology	Often (30–79%)
Abnormal cardiovascular system physiology	Often (30–79%)
Abnormal left ventricular function	Often (30–79%)
Aortic regurgitation	Often (30–79%)
Arteriovenous malformation	Often (30–79%)
Ascending aortic dissection	Often (30–79%)
Descending aortic dissection	Often (30–79%)
Enlarged heart	Often (30–79%)
Hepatic arteriovenous malformation	Often (30–79%)
High blood pressure	Often (30–79%)
Patent ductus arteriosus	Often (30–79%)
Plaque build-up in arteries supplying blood to heart	Often (30–79%)
Portal hypertension	Often (30–79%)
Pulmonary arteriovenous malformation	Often (30–79%)
Swollen lymph nodes	Often (30–79%)
Visceral angiomatosis	Often (30–79%)
Abdominal aortic aneurysm	Sometimes (5–29%)
Abnormality of the cerebral blood vessels	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Aortic valve has two leaflets rather than three	Sometimes (5–29%)
Blood clot in artery of lung	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%)
Cardiac failure	Sometimes (5–29%)
Carotid artery dilatation	Sometimes (5–29%)
Cerebral arteriovenous malformation	Sometimes (5–29%)
Depleted blood volume	Sometimes (5–29%)
Descending thoracic aorta aneurysm	Sometimes (5–29%)
Enlarged liver and spleen	Sometimes (5–29%)
Gastrointestinal arteriovenous malformation	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Increased blood pressure in blood vessels of lungs	Sometimes (5–29%)
Ischemic stroke	Sometimes (5–29%)
Mini stroke	Sometimes (5–29%)
Narrowing of pulmonic valve	Sometimes (5–29%)
Peripheral arterial stenosis	Sometimes (5–29%)
Peripheral arteriovenous fistula	Sometimes (5–29%)
Retinal telangiectasia	Sometimes (5–29%)
Stroke	Sometimes (5–29%)
Tear in inner wall of large artery that carries blood away from heart	Sometimes (5–29%)
Fluid around heart	Not recorded
Narrowing of aorta	Not recorded
Narrowing of aortic valve	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Big lower jaw	Always
Highly arched eyebrow	Always
Increased thickness of skull cap	Always
Long eyelashes	Always
Midface retrusion	Always
Short philtrum	Always
Decreased size of maxilla	Very often (80–99%)
Decreased volume of lip	Very often (80–99%)
Enlargement of craniofacial bones	Very often (80–99%)
Narrow eyelid opening	Very often (80–99%)
Narrow mouth	Very often (80–99%)
Spider veins of mucosa of nose	Very often (80–99%)
Spider veins of the lip	Very often (80–99%)
Spider veins of the tongue	Very often (80–99%)
Thin red part of the upper lip	Very often (80–99%)
Abnormal lip	Often (30–79%)
Narrow opening between the eyelids	Often (30–79%)
Short opening between the eyelids	Often (30–79%)
Bifid uvula	Sometimes (5–29%)
Big calvaria	Sometimes (5–29%)
Cleft lip	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Gingival cleft	Sometimes (5–29%)
High, narrow palate	Sometimes (5–29%)
One sided cleft upper lip	Sometimes (5–29%)
Receding chin	Sometimes (5–29%)
Small dilated blood vessels near membrane covering front of eye and eyelids	Sometimes (5–29%)
Submucous cleft hard palate	Sometimes (5–29%)
Velopharyngeal incompetence	Sometimes (5–29%)
Abnormally small head	Not recorded
Prominent nasal bridge	Not recorded
Short neck	Not recorded
Thick eyebrow	Not recorded
Zygomatic flattening	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Juvenile colonic polyposis	Always
Juvenile gastrointestinal polyposis	Always
Pancreatic adenocarcinoma	Always
Abdominal pain	Very often (80–99%)
Anorexia	Very often (80–99%)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Very often (80–99%)
Poor appetite	Very often (80–99%)
Adenomatous colonic polyposis	Often (30–79%)
Diarrhea	Often (30–79%)
Extrahepatic cholestasis	Often (30–79%)
Functional intestinal obstruction	Often (30–79%)
Intestinal pseudo-obstruction	Often (30–79%)
Jaundice	Often (30–79%)
Multiple gastric polyps	Often (30–79%)
Rectal polyposis	Often (30–79%)
Colon cancer	Sometimes (5–29%)
Duodenal adenocarcinoma	Sometimes (5–29%)
Duodenal stenosis	Sometimes (5–29%)
Enlarged vein in esophagus	Sometimes (5–29%)
Femoral hernia	Sometimes (5–29%)
Growths in inner lining of intestine	Sometimes (5–29%)
Inguinal hernia	Sometimes (5–29%)
Intermittent diarrhea	Sometimes (5–29%)
Intussusception	Sometimes (5–29%)
Liver cancer	Sometimes (5–29%)
Liver failure	Sometimes (5–29%)
Nausea and vomiting	Sometimes (5–29%)
Peritoneal abscess	Sometimes (5–29%)
Rectum protrudes through anus	Sometimes (5–29%)
Scar tissue replaces healthy tissue in the liver	Sometimes (5–29%)
Stomach tumor	Sometimes (5–29%)
Duodenal polyposis	Rarely (1–4%)
Small intestinal polyposis	Rarely (1–4%)
Cancer of the pancreas	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Enlarged vertebral pedicles	Always
Excessive inward curvature of lower spine	Always
Generalized increase in muscle cell size	Always
Hunched back	Always
Hypoplastic iliac wing	Always
Increased skeletal muscle cells	Always
Joint stiffness	Always
Limitation of joint mobility	Always
Short long bone	Always
Spasticity and rigidity of muscles	Always
Abnormality of connective tissue	Very often (80–99%)
Abnormality of the pubic bone	Very often (80–99%)
Abnormality of the ribs	Very often (80–99%)
Back pain	Very often (80–99%)
Flattened vertebrae	Very often (80–99%)
Large iliac wing	Very often (80–99%)
Abnormal shape of end part of bone	Often (30–79%)
Broad ribs	Often (30–79%)
Cone-shaped end part of bone	Often (30–79%)
Delayed bone maturation	Often (30–79%)
EMG abnormality	Often (30–79%)
Abnormality of the sternum	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Permanent flexion of the finger or toe	Not recorded
Vertebral fusion	Not recorded

Abnormality of limbs

Trait	How often it is seen
Short fingers or toes	Always
Short foot	Always
Short palm	Always
Abnormality of the wide portion of a long bone	Often (30–79%)
Clubbing of fingers and toes	Often (30–79%)
Curvature of little finger	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)
Long slender fingers	Sometimes (5–29%)
Overlapping toe	Not recorded
Radial deviation of finger	Not recorded
Short finger	Not recorded
Short toe	Not recorded
Webbed 2nd and 3rd toes	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Always
Speech articulation difficulties	Always
Global developmental delay	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Specific learning disability	Very often (80–99%)
Migraine	Often (30–79%)
Ataxia	Sometimes (5–29%)
Autism	Sometimes (5–29%)
Behavioral abnormality	Sometimes (5–29%)
Dural ectasia	Sometimes (5–29%)
More active than typical	Sometimes (5–29%)
Psychosis	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding in brain	Always
Low blood cell count	Always
Bleeding tendency	Very often (80–99%)
Bloody nose	Very often (80–99%)
Low number of red blood cells or hemoglobin	Very often (80–99%)
Recurring nosebleed	Very often (80–99%)
Rectal bleeding	Often (30–79%)
Blood clot in vein	Sometimes (5–29%)
Bruising susceptibility	Sometimes (5–29%)
Gastrointestinal bleeding	Sometimes (5–29%)
Subarachnoid hemorrhage	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Very often (80–99%)
Severe short stature	Very often (80–99%)
Short stature	Very often (80–99%)
Weight loss	Very often (80–99%)
Birth length less than 3rd percentile	Often (30–79%)
Faltering weight	Often (30–79%)
Obesity	Often (30–79%)
Small for gestational age	Often (30–79%)
Growth delay	Sometimes (5–29%)
Tall stature	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormality of the iris	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Severe farsightedness	Often (30–79%)
Abnormally small eyeball	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)
Deeply set eye	Not recorded
Farsightedness	Not recorded

Abnormality of the integument

Trait	How often it is seen
Chicken skin	Always
Cyanotic episode	Always
Thickened skin	Very often (80–99%)
Anemic pallor	Often (30–79%)
Stiff skin	Often (30–79%)
Spinal dimple	Sometimes (5–29%)
Fine hair	Not recorded
Sparse hair	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Exertional breathlessness	Often (30–79%)
Paroxysmal dyspnea	Often (30–79%)
Collapsed lung	Sometimes (5–29%)
Coughing up blood	Sometimes (5–29%)
Respiratory failure	Sometimes (5–29%)
Respiratory function loss	Sometimes (5–29%)
Laryngotracheal stenosis	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Often (30–79%)
Abnormality of the penis	Sometimes (5–29%)
Epispadias	Sometimes (5–29%)
Hypospadias	Sometimes (5–29%)
Ovarian carcinoma	Sometimes (5–29%)
Underdevelopment of external reproductive organs	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Diabetes mellitus	Sometimes (5–29%)
Fluid retention	Sometimes (5–29%)
High liver enzymes	Sometimes (5–29%)
Increased level of L-fucose in urine	Not recorded
Low albumin	Not recorded
Low blood potassium levels	Not recorded

Abnormality of the ear

Trait	How often it is seen
Small earlobe	Always
Hearing impairment	Very often (80–99%)
Small ears	Sometimes (5–29%)
Low-set ears	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Decreased activity of gonads	Sometimes (5–29%)
Early onset of puberty	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Chronic fatigue	Very often (80–99%)
Chest pain	Often (30–79%)

Abnormal tissue mass

Trait	How often it is seen
Cancer of skin pigment cells	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Breast cancer	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Abnormality of the voice	Not recorded

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 SMAD4 and how often each is seen. Find out more at hpo.jax.org.

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