Traits

Traits linked to HES7

hes family bHLH transcription factor 7

The Human Phenotype Ontology links 60 traits to HES7, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Bell-shaped thorax	Always
Missing part of vertebrae	Always
Shorter than typical length between neck and abdomen	Always
Vertebral fusion	Always
Vertebral segmentation defect	Always
Abnormal intervertebral disk morphology	Very often (80–99%)
Abnormal vertebral body morphology	Very often (80–99%)
Abnormality of the ribs	Very often (80–99%)
Rib fusion	Very often (80–99%)
Rib segmentation abnormalities	Very often (80–99%)
Scoliosis	Very often (80–99%)
Funnel chest	Often (30–79%)
Hunched back	Often (30–79%)
Missing ribs	Often (30–79%)
Congenital diaphragmatic hernia	Sometimes (5–29%)
Abnormal odontoid process morphology	Not recorded
Block vertebrae	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Short neck	Very often (80–99%)
Broad neck	Often (30–79%)
Abnormally small head	Sometimes (5–29%)
Big calvaria	Sometimes (5–29%)
Broad forehead	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Prominent back of the head	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Aplasia of posterior communicating artery	Always
Vertebral artery hypoplasia	Always
Abnormal cardiovascular system morphology	Sometimes (5–29%)
Anomalous pulmonary venous return	Sometimes (5–29%)
All organs on wrong side of body	Not recorded
Heart tip and four chambers point towards right side of body	Not recorded
Unilateral vertebral artery hypoplasia	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Lack of bladder control due to nervous system injury	Always
Abnormal morphology of female internal genitalia	Sometimes (5–29%)
Abnormality of the ureter	Sometimes (5–29%)
Hypospadias	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)
Urogenital fistula	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Chiari type II malformation	Always
Myelomeningocele	Always
Too much cerebrospinal fluid in the brain	Always
Spina bifida occulta	Often (30–79%)
Intellectual disability	Sometimes (5–29%)
Meningocele	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abnormal anus position	Always
Narrowing of anal opening	Always
Inguinal hernia	Sometimes (5–29%)
Umbilical hernia	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Reduced forced expiratory volume in one second	Always
Reduced forced vital capacity	Always
Stiff lung or chest wall causing decreased lung volume	Always
Respiratory function loss	Very often (80–99%)

Abnormality of limbs

Trait	How often it is seen
Finger syndactyly	Sometimes (5–29%)
Permanent flexion of the finger	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Very often (80–99%)
Short stature	Very often (80–99%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Abnormality of immune system physiology	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 HES7 and how often each is seen. Find out more at hpo.jax.org.

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