Traits

Traits linked to DVL1

dishevelled segment polarity protein 1

The Human Phenotype Ontology links 142 traits to DVL1, 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
Big calvaria	Always
Calvarial osteosclerosis	Always
Depressed nasal bridge	Always
Failure of development of more than six teeth	Always
Frontal bossing	Always
Full upper lip	Always
High forehead	Always
High palate	Always
Midface retrusion	Always
Short nose	Always
Triangular mouth	Always
Wide mouth	Always
Wide nasal bridge	Always
Gum enlargement	Very often (80–99%)
Long philtrum	Very often (80–99%)
Nasal tip, upturned	Very often (80–99%)
Wide nose	Very often (80–99%)
Abnormality of the gums	Often (30–79%)
Broad opening between the eyelids	Often (30–79%)
Central cleft palate	Often (30–79%)
Cleft palate	Often (30–79%)
Cleft tongue	Often (30–79%)
Curly eyelashes	Often (30–79%)
Delayed loss of baby teeth	Often (30–79%)
Downturned corners of mouth	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Euryblepharon	Often (30–79%)
Eye folds	Often (30–79%)
Flat face	Often (30–79%)
High, narrow palate	Often (30–79%)
Increased thickness of skull cap	Often (30–79%)
Little lower jaw	Often (30–79%)
Long eyelashes	Often (30–79%)
Open bite	Often (30–79%)
Prominent forehead	Often (30–79%)
Receding chin	Often (30–79%)
Short lingual frenulum	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Upward slanting of the opening between the eyelids	Often (30–79%)
Wider-than-typical soft spot of skull	Often (30–79%)
Zygomatic flattening	Often (30–79%)
Absent uvula	Sometimes (5–29%)
Cleft soft palate	Sometimes (5–29%)
Extra teeth	Sometimes (5–29%)
Failure of development of all teeth	Sometimes (5–29%)
Failure of development of between one and six teeth	Sometimes (5–29%)
Short neck	Sometimes (5–29%)
Short philtrum	Sometimes (5–29%)
Abnormal dentition	Not recorded
Abnormally large tongue	Not recorded
Bad bite	Not recorded
Cleft of the mouth	Not recorded
Delayed eruption of teeth	Not recorded
Dental crowding	Not recorded
Narrow palate	Not recorded
Short hard palate	Not recorded

Abnormality of limbs

Trait	How often it is seen
Hip dislocation	Always
Short fingers or toes	Always
Underdeveloped outer large forearm bone	Always
Broad big toe	Very often (80–99%)
Curvature of digit	Very often (80–99%)
Short palm	Very often (80–99%)
Smaller or shorter than typical limbs	Very often (80–99%)
Broad thumb	Often (30–79%)
Curvature of little finger	Often (30–79%)
Dislocated radial head	Often (30–79%)
Disproportionately short middle portion of limb	Often (30–79%)
Limited elbow extension and supination	Often (30–79%)
Notched outermost bone of the thumb	Often (30–79%)
Partial duplication of hand bones	Often (30–79%)
Partial duplication of the thumb bones	Often (30–79%)
Avascular necrosis of the capital femoral epiphysis	Sometimes (5–29%)
Coxa valga	Sometimes (5–29%)
Coxa vara	Sometimes (5–29%)
Elbow dislocation	Sometimes (5–29%)
Finger syndactyly	Sometimes (5–29%)
Permanent flexion of the finger	Sometimes (5–29%)
Broad toe	Not recorded
Disproportionately short upper portion of limb	Not recorded
Duplication of the outermost bone of hand	Not recorded
Notched outermost bones of toes	Not recorded
Radial deviation of finger	Not recorded
Short middle bone of the little finger	Not recorded
Short outermost finger bone	Not recorded
Small hand	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Limited hip extension	Always
Short long bone	Very often (80–99%)
Abnormal vertebral body morphology	Often (30–79%)
Funnel chest	Often (30–79%)
Kyphoscoliosis	Often (30–79%)
Missing part of vertebrae	Often (30–79%)
Permanent flexion of the finger or toe	Often (30–79%)
Scoliosis	Often (30–79%)
Abnormal formation of the hip	Sometimes (5–29%)
Pigeon chest	Sometimes (5–29%)
Delayed bone maturation	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Short penis	Always
Underdeveloped penis	Very often (80–99%)
Undescended testes	Very often (80–99%)
Hypospadias	Often (30–79%)
Small clitoris	Often (30–79%)
Small labia majora	Often (30–79%)
Underdeveloped inner lips	Often (30–79%)
Abnormality of the penis	Sometimes (5–29%)
Epispadias	Sometimes (5–29%)
Hydronephrosis	Not recorded

Abnormality of the integument

Trait	How often it is seen
Spinal dimple	Often (30–79%)
Abnormal fingernail development	Sometimes (5–29%)
Atypical nail growth	Sometimes (5–29%)
Hair loss	Sometimes (5–29%)
Overgrowth and curving of fingernail	Sometimes (5–29%)
Port-wine stain on eyelid	Sometimes (5–29%)
Ridged fingernail	Sometimes (5–29%)
port-wine stain	Not recorded

Abnormality of the ear

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

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Thin corpus callosum	Always
Obstructive sleep apnea	Often (30–79%)
Epilepsy	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Specific learning disability	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Umbilical hernia	Often (30–79%)
Femoral hernia	Sometimes (5–29%)
Inguinal hernia	Sometimes (5–29%)
Omphalocele	Sometimes (5–29%)
Extra kidney	Not recorded

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Very often (80–99%)
Blue outer white part of eyeball	Often (30–79%)
Bulging eye	Often (30–79%)
Cross-eyed	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal atrial septum morphology	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Strawberry birthmark	Sometimes (5–29%)
Right ventricular outlet tract obstruction	Not recorded

Growth abnormality

Trait	How often it is seen
Short stature	Always
Severe short stature	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 DVL1 and how often each is seen. Find out more at hpo.jax.org.

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