Traits

Traits linked to CDH3

cadherin 3

The Human Phenotype Ontology links 52 traits to CDH3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	How often it is seen
Choriocapillaris atrophy	Always
Decreased clarity of vision	Always
Macular atrophy	Always
Macular degeneration	Always
Macular dystrophy	Always
Macular hyperpigmentation	Always
Subretinal deposits	Always
Abnormal macular pigmentation	Very often (80–99%)
Abnormal retinal pigmentation	Very often (80–99%)
Blindness	Very often (80–99%)
Noninflammatory retina disease	Very often (80–99%)
Abnormality of the eye	Often (30–79%)
Abnormality of vision	Often (30–79%)
Cross-eyed	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Absent sebaceous glands	Always
Epidermoid cyst	Always
Flattened and twisted hair	Always
Follicular hyperkeratosis	Always
Paleness	Always
Sparse hair	Always
Sparse body hair	Very often (80–99%)
Brittle hair	Often (30–79%)
Fine hair	Often (30–79%)
Beauty mark	Sometimes (5–29%)
Freckling	Sometimes (5–29%)
Hyperkeratosis	Sometimes (5–29%)
Ectodermal dysplasia	Not recorded
Reduced terminal:vellus ratio	Not recorded

Abnormality of limbs

Trait	How often it is seen
Cleft hand	Very often (80–99%)
Finger syndactyly	Often (30–79%)
3-4 finger cutaneous syndactyly	Sometimes (5–29%)
Abnormal shape of limb bone	Sometimes (5–29%)
Split hand	Sometimes (5–29%)
Webbed 1st-4th finger	Sometimes (5–29%)
Webbed 2nd-3rd fingers	Sometimes (5–29%)
Webbed 3rd-4th toes	Sometimes (5–29%)
Webbed index through ring fingers	Sometimes (5–29%)
Joint contracture of the hand	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Sparse scalp hair	Always
Abnormality of dental shape	Very often (80–99%)
Absence of a tooth	Often (30–79%)
Absent eyebrow	Often (30–79%)
Decreased size of tooth	Often (30–79%)
Dental cavities	Often (30–79%)
Widely spaced teeth	Often (30–79%)
Sparse eyebrow	Not recorded
Sparse eyelashes	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal skeletal development	Sometimes (5–29%)
Permanent flexion of the finger or toe	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Immunologic hypersensitivity	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	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 CDH3 and how often each is seen. Find out more at hpo.jax.org.

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