Traits

Traits linked to CEP57

centrosomal protein 57

The Human Phenotype Ontology links 92 traits to CEP57, by body system: features seen in people with one of the gene's rare conditions.

CEP57

Abnormality of head or neck

Trait	How often it is seen
Bulbous nose	Always
Deformity of the skull	Always
Downward slanting of the opening between the eyelids	Always
Frontal bossing	Always
Little lower jaw	Always
Long face	Always
Long, narrow head	Always
Narrow mouth	Always
Narrow opening between the eyelids	Always
Prominent forehead	Always
Short nose	Always
Triangular face	Always
Dandy-Walker malformation	Very often (80–99%)
Eye folds	Very often (80–99%)
Increased nuchal translucency	Very often (80–99%)
Abnormally small head	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Abnormality of the skull	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Flat nose	Sometimes (5–29%)
High forehead	Sometimes (5–29%)
Short opening between the eyelids	Sometimes (5–29%)
Sloping forehead	Sometimes (5–29%)
Temporal bossing	Sometimes (5–29%)
Wide nose	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Always
Ventriculomegaly	Very often (80–99%)
Global developmental delay	Often (30–79%)
Pauses in breathing while sleeping	Often (30–79%)
Absent/small cerebellum	Sometimes (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Holoprosencephaly	Sometimes (5–29%)
Intellectual disability, mild	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormally close eyes	Always
Abnormally small eyeball	Very often (80–99%)
Clouding of the lens of the eye	Very often (80–99%)
Corneal opacity	Very often (80–99%)
Glaucoma	Very often (80–99%)
Abnormality of the eye	Often (30–79%)
Abnormality of vision	Often (30–79%)
Deeply set eye	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Aortic regurgitation	Always
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Narrowing of blood vessel below aortic heart valve	Often (30–79%)
Abnormal aortic morphology	Sometimes (5–29%)
Abnormal cardiovascular system morphology	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Narrowing of aorta	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Always
Muscular dystrophy	Very often (80–99%)
Abnormality of the skeletal system	Sometimes (5–29%)
Breakdown of bone	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)
Rhabdomyosarcoma	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Always
Single transverse palmar crease	Always
Curvature of digit	Often (30–79%)
Disproportionately short upper portion of limb	Often (30–79%)
Abnormality of the upper limb	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Accumulation of fluid in the abdomen	Very often (80–99%)
Absence or narrowing of first part of small bowel	Sometimes (5–29%)
Colon cancer	Sometimes (5–29%)
Growths in inner lining of intestine	Sometimes (5–29%)
Stomach cancer	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Sparse hair	Always
Epidermoid cyst	Often (30–79%)
Abnormal skin pigmentation	Sometimes (5–29%)
Birthmark	Sometimes (5–29%)
Multiple birthmarks	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay	Always
Severe prenatal growth deficiency	Always
Short stature	Always
Small for gestational age	Very often (80–99%)
Prenatal growth deficiency	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Always
Round ear	Always
Hearing impairment	Often (30–79%)
Ears rotated toward back of head	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Ambiguous external genitalia	Sometimes (5–29%)
Multicystic kidney dysplasia	Sometimes (5–29%)
Nephroblastoma	Sometimes (5–29%)
Vaginal tumor	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Acute lymphoblastic leukemia	Sometimes (5–29%)
Myelodysplasia	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased response to growth hormone stimulation test	Always
Underactive thyroid	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormal lung lobation	Sometimes (5–29%)
Apnea	Sometimes (5–29%)

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Very often (80–99%)

Abnormality of the immune system

Trait	How often it is seen
Abnormality of immune system physiology	Sometimes (5–29%)

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 CEP57 and how often each is seen. Find out more at hpo.jax.org.

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