Traits

Traits linked to ESCO2

establishment of sister chromatid cohesion N-acetyltransferase 2

The Human Phenotype Ontology links 119 traits to ESCO2, by body system: features seen in people with one of the gene's rare conditions.

ESCO2

Abnormality of limbs

Trait	How often it is seen
Phocomelia	Always
Abnormality of the upper limb	Very often (80–99%)
Absent/small thumb	Very often (80–99%)
Attachment of thumb close to wrist	Very often (80–99%)
Bowing of the long bones	Very often (80–99%)
Complete duplication of thumb bones	Very often (80–99%)
Curvature of little finger	Very often (80–99%)
Mesomelic arm shortening	Very often (80–99%)
Missing outer large bone of forearm	Very often (80–99%)
Radial deviation of finger	Very often (80–99%)
Underdeveloped outer large forearm bone	Very often (80–99%)
Abnormal shape of long bones of hand	Often (30–79%)
Abnormalities of the fingers	Often (30–79%)
Abnormality of the elbow	Often (30–79%)
Abnormality of the wrist	Often (30–79%)
Absent thumb	Often (30–79%)
Aplasia of the ulna	Often (30–79%)
Fused forearm bones	Often (30–79%)
Fused toes	Often (30–79%)
Hammertoe	Often (30–79%)
Short fingers or toes	Often (30–79%)
Short humerus	Often (30–79%)
Short thumb	Often (30–79%)
Underdeveloped inner large forearm bone	Often (30–79%)
Absent kneecap	Sometimes (5–29%)
Bilateral single transverse palmar creases	Sometimes (5–29%)
Finger syndactyly	Sometimes (5–29%)
Fusion of wrist bones	Sometimes (5–29%)
Gap between 1st and 2nd toes	Sometimes (5–29%)
Inability to straighten knee	Sometimes (5–29%)
Wrist flexion contracture	Sometimes (5–29%)
Abnormal wrist bones	Not recorded
Abnormalities of the toes	Not recorded
Abnormality of the radial head	Not recorded
Absent fingers	Not recorded
Ankle flexion contracture	Not recorded
Curvature of digit	Not recorded
Elbow flexion contracture	Not recorded
Limited elbow extension	Not recorded
Talipes equinovalgus	Not recorded
Tetraphocomelia	Not recorded
Webbed fingers or toes	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Underdeveloped tissue around nostril	Always
Abnormally small head	Very often (80–99%)
Big maxilla	Very often (80–99%)
Broad head shape	Very often (80–99%)
Wide nose	Very often (80–99%)
Zygomatic flattening	Very often (80–99%)
Abnormality of the eyebrow	Often (30–79%)
Cleft of the mouth	Often (30–79%)
Cleft palate	Often (30–79%)
Cleft upper lip	Often (30–79%)
Flattened bony protrusion above eyes	Often (30–79%)
Highly arched eyebrow	Often (30–79%)
Little lower jaw	Often (30–79%)
Midface capillary hemangioma	Often (30–79%)
Dandy-Walker malformation	Sometimes (5–29%)
Deformity of the skull	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Short neck	Sometimes (5–29%)
Cleft eyelid	Not recorded
Collapsed nostrils	Not recorded
Cystic hygroma	Not recorded
Decreased depth of eye sockets	Not recorded
Downward slanting of the opening between the eyelids	Not recorded
Frontoethmoidal encephalocele	Not recorded
Wide nasal bridge	Not recorded

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Very often (80–99%)
Bulging eye	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Abnormally small eyeball	Sometimes (5–29%)
Blue outer white part of eyeball	Sometimes (5–29%)
Corneal opacity	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Glaucoma	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Notched pupil	Not recorded
Opacification of the corneal stroma	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Enlarged clitoris	Often (30–79%)
Horseshoe kidney	Often (30–79%)
Hypospadias	Often (30–79%)
Long penis	Often (30–79%)
Undescended testes	Often (30–79%)
Polycystic kidney dysplasia	Sometimes (5–29%)
Enlarged labia minora	Not recorded
Heart shaped uterus	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Often (30–79%)
Cavernous hemangioma of the face	Often (30–79%)
Accessory spleen	Not recorded
An opening in the wall separating the top two chambers of the heart	Not recorded
Hole in heart wall separating two lower heart chambers	Not recorded
Patent ductus arteriosus	Not recorded

Growth abnormality

Trait	How often it is seen
Growth delay as children	Very often (80–99%)
Prenatal growth deficiency	Very often (80–99%)
Severe prenatal growth deficiency	Very often (80–99%)
Severe short stature	Very often (80–99%)
Short stature	Not recorded

Abnormality of the ear

Trait	How often it is seen
Abnormally shaped ears	Often (30–79%)
Absent earlobe	Often (30–79%)
Ears rotated toward back of head	Not recorded
Low-set ears	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal vertebral morphology	Often (30–79%)
Abnormality of the ribs	Often (30–79%)
Scoliosis	Often (30–79%)
Progressive flexion contractures	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Often (30–79%)
Intellectual disability	Often (30–79%)
Cranial nerve paralysis	Not recorded
Too much cerebrospinal fluid in the brain	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Anteriorly placed anus	Sometimes (5–29%)
Abdomen abnormality	Not recorded
Biliary tract abnormality	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Premature birth	Often (30–79%)
High levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Sparse hair	Very often (80–99%)
Birthmark	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Premature separation of centromeric heterochromatin	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low platelet count	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased response to growth hormone stimulation test	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 ESCO2 and how often each is seen. Find out more at hpo.jax.org.

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