Traits

Traits linked to CDH11

cadherin 11

The Human Phenotype Ontology links 114 traits to CDH11, 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
Absence of front tooth	Always
Bad bite	Always
Big lower jaw	Always
Broad philtrum	Always
Bulbous nose	Always
Delayed eruption of teeth	Always
High palate	Always
Multiple impacted teeth	Always
Nasal tip, upturned	Always
Pointed chin	Always
Premature glabellar skin wrinkling	Always
Thick eyebrow	Always
Thin red part of the upper lip	Always
Wide nasal bridge	Always
Wide nose	Always
Abnormal dentin	Very often (80–99%)
Abnormal dentition	Very often (80–99%)
Abnormal sella turcica morphology	Very often (80–99%)
Abnormality of the midface	Very often (80–99%)
Abnormally small head	Very often (80–99%)
Advanced pneumatization of the mastoid process	Very often (80–99%)
Bifid uvula	Very often (80–99%)
Blepharochalasis	Very often (80–99%)
Broad head shape	Very often (80–99%)
Broad nasal tip	Very often (80–99%)
Chin with horizontal crease	Very often (80–99%)
Corners of eye widely separated	Very often (80–99%)
Decreased size of maxilla	Very often (80–99%)
Dental cavities	Very often (80–99%)
Depressed nasal bridge	Very often (80–99%)
Downturned corners of mouth	Very often (80–99%)
Flat face	Very often (80–99%)
High forehead	Very often (80–99%)
Highly arched eyebrow	Very often (80–99%)
Increased thickness of skull cap	Very often (80–99%)
Monobrow	Very often (80–99%)
One sided cleft palate	Very often (80–99%)
Rootless teeth	Very often (80–99%)
Short neck	Very often (80–99%)
Submucous cleft hard palate	Very often (80–99%)
Wrinkles around the eyes	Very often (80–99%)
Broad forehead	Often (30–79%)
Cleft nasal tip	Often (30–79%)
Decreased volume of lip	Often (30–79%)
Deformity of the skull	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Drooping lower lip	Often (30–79%)
Early tooth loss	Often (30–79%)
Extra teeth	Often (30–79%)
Impacted tooth	Often (30–79%)
Short nose	Often (30–79%)
Short philtrum	Often (30–79%)
Wider-than-typical soft spot of skull	Often (30–79%)
Zygomatic flattening	Often (30–79%)
Cleft eyelid	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Cleft upper eyelid	Sometimes (5–29%)
Decreased size of tooth	Sometimes (5–29%)
Facial asymmetry	Rarely (1–4%)
Full lower lip	Not recorded
Long philtrum	Not recorded
Low hanging columella	Not recorded
Midface retrusion	Not recorded
Narrow forehead	Not recorded

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Always
Wide-set eyes	Always
Cross-eyed	Very often (80–99%)
Clouding of the lens of the eye	Often (30–79%)
Enlarged cornea	Often (30–79%)
Exodeviation	Often (30–79%)
Glaucoma	Often (30–79%)
Increased cup-to-disc ratio	Often (30–79%)
Phthisis bulbi	Often (30–79%)
Drooping upper eyelid	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed fine motor development	Always
Global developmental delay	Always
Intellectual disability	Always
Intellectual disability, mild	Always
IQ between 34 and 49	Very often (80–99%)
Attention deficit	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Bilateral cryptorchidism	Always
Cleft of scrotum	Always
Hypospadias	Always
Penoscrotal hypospadias	Very often (80–99%)
Short penis	Very often (80–99%)
Narrowing of the ureter	Sometimes (5–29%)
Absent external genitalia	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Shortening of all finger bones	Always
Webbed fingers	Always
Curvature of little finger	Sometimes (5–29%)
Amelia involving the lower limbs	Rarely (1–4%)
Short fingers or toes	Rarely (1–4%)
Upper limb peromelia	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Attached earlobe	Very often (80–99%)
Large earlobe	Very often (80–99%)
Mixed hearing impairment	Often (30–79%)
Hearing impairment	Sometimes (5–29%)
Ears rotated toward back of head	Not recorded
Low-set ears	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abnormality of the anus	Always
Anteriorly placed anus	Rarely (1–4%)
Bladder exstrophy	Rarely (1–4%)
Narrowing of anal opening	Rarely (1–4%)
Umbilical hernia	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormality of the vertebral spinous processes	Very often (80–99%)
Funnel chest	Very often (80–99%)
Abnormal cervical spine	Often (30–79%)
Cervical C2/C3 vertebral fusion	Often (30–79%)
Thoracolumbar kyphoscoliosis	Often (30–79%)

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Always
Absent nipple	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Mole	Often (30–79%)

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 CDH11 and how often each is seen. Find out more at hpo.jax.org.

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