Traits

Traits linked to CDH1

cadherin 1

The Human Phenotype Ontology links 55 traits to CDH1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Distichiasis	Always
Euryblepharon	Always
Eyelids stay open	Always
Flat face	Always
High forehead	Always
Lower eyelid folded out	Always
Abnormality of the eyelid	Very often (80–99%)
Abnormality of tooth eruption	Very often (80–99%)
Cleft upper lip	Very often (80–99%)
Cleft of the mouth	Often (30–79%)
Cleft palate	Often (30–79%)
Cone shaped tooth	Often (30–79%)
Dental cavities	Often (30–79%)
One sided cleft palate	Often (30–79%)
Velopharyngeal incompetence	Often (30–79%)
Abnormal number of permanent teeth	Sometimes (5–29%)
Bad bite	Sometimes (5–29%)
Blockage of the rear opening of the nasal cavity	Sometimes (5–29%)
Hole in roof of mouth	Sometimes (5–29%)
Missing lateral incisor	Sometimes (5–29%)
Peg-shaped maxillary lateral incisors	Sometimes (5–29%)
Right and left cleft palate	Sometimes (5–29%)
Decreased size of maxilla	Rarely (1–4%)
High frontal hairline	Rarely (1–4%)
Both sided cleft lip	Not recorded
Failure of development of between one and six teeth	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Stomach cancer	Always
Feeding difficulties in infancy	Often (30–79%)
Oral-pharyngeal dysphagia	Often (30–79%)
Poor suck	Often (30–79%)
Absent anus	Sometimes (5–29%)
Malnutrition	Sometimes (5–29%)
Atrophic gastritis	Not recorded

Abnormality of the integument

Trait	How often it is seen
Sparse hair	Very often (80–99%)
Atypical nail growth	Often (30–79%)
Abnormal hair quantity	Sometimes (5–29%)
Aplasia cutis congenita over the scalp vertex	Sometimes (5–29%)
Epidermoid cyst	Sometimes (5–29%)
Small nail	Not recorded

Abnormality of limbs

Trait	How often it is seen
Finger syndactyly	Often (30–79%)
Cutaneous syndactyly	Sometimes (5–29%)
Curvature of digit	Not recorded

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Always
Abnormality of the eye	Often (30–79%)
Abnormality of vision	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Dysgerminoma	Not recorded
Endometrial carcinoma	Not recorded
Ovarian papillary adenocarcinoma	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Often (30–79%)
Speech articulation difficulties	Often (30–79%)
Neural tube defect	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Conductive deafness	Often (30–79%)
Recurrent middle ear infection	Often (30–79%)

Abnormality of the breast

Trait	How often it is seen
Breast cancer	Not recorded

Abnormality of the voice

Trait	How often it is seen
Nasal speech	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 CDH1 and how often each is seen. Find out more at hpo.jax.org.

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