Traits

Traits linked to SALL4

spalt like transcription factor 4

The Human Phenotype Ontology links 149 traits to SALL4, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	How often it is seen
Short thighbone	Always
Underdeveloped inner large forearm bone	Always
Underdeveloped outer large forearm bone	Always
Abnormal morphology of the radius	Very often (80–99%)
Abnormality of the thumb	Very often (80–99%)
Aplasia/Hypoplasia of the radius	Very often (80–99%)
Short outermost bone of the thumb	Very often (80–99%)
Short thumb	Very often (80–99%)
Small thenar eminence	Very often (80–99%)
Absent thumb	Often (30–79%)
Broad bone of big toe	Often (30–79%)
Extra thumb	Often (30–79%)
Finger-like thumb	Often (30–79%)
Fused forearm bones	Often (30–79%)
Fused wrist bones	Often (30–79%)
Fusion of wrist bones	Often (30–79%)
Gap between 1st and 2nd toes	Often (30–79%)
Radial ray deficiency	Often (30–79%)
Short big toe	Often (30–79%)
Upper limb undergrowth	Often (30–79%)
Absent/small thumb	Sometimes (5–29%)
Club feet	Sometimes (5–29%)
Finger syndactyly	Sometimes (5–29%)
Fused toes	Sometimes (5–29%)
Missing outer large bone of forearm	Sometimes (5–29%)
Preaxial polydactyly	Sometimes (5–29%)
Short fingers or toes	Sometimes (5–29%)
Short humerus	Sometimes (5–29%)
Small pec muscle	Sometimes (5–29%)
Talipes	Sometimes (5–29%)
Absent long bone of hand	Not recorded
Dropped arches	Not recorded
Hypoplasia of deltoid muscle	Not recorded
Limited elbow movement	Not recorded
Limited movement of hinge joints	Not recorded
Limited wrist movement	Not recorded
Radial deviation of the hand	Not recorded
Shortened 1st long bone of hand	Not recorded
Small carpal bones	Not recorded
Underdevelopment of upper limb muscles	Not recorded
Webbed fingers or toes	Not recorded

Abnormality of the eye

Trait	How often it is seen
Abnormality of eye movement	Very often (80–99%)
Abnormally small eyeball	Very often (80–99%)
Cross-eyed	Very often (80–99%)
Duane anomaly	Very often (80–99%)
Oculomotor apraxia	Very often (80–99%)
Oculomotor nerve palsy	Very often (80–99%)
Deeply set eye	Often (30–79%)
Impaired ocular abduction	Often (30–79%)
Impaired ocular adduction	Often (30–79%)
Optic disc coloboma	Often (30–79%)
Optic disc hypoplasia	Often (30–79%)
Paroxysmal tonic upgaze	Often (30–79%)
Visual impairment	Often (30–79%)
Abnormality of the pupil	Sometimes (5–29%)
Absent iris	Sometimes (5–29%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Sometimes (5–29%)
Cat eye	Sometimes (5–29%)
Central heterochromia	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Compensatory head posture	Sometimes (5–29%)
Cornea of eye less than 10mm in diameter	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Gustatory lacrimation	Sometimes (5–29%)
Hypoplastic iris stroma	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Lazy eye	Sometimes (5–29%)
Marcus Gunn jaw winking synkinesis	Sometimes (5–29%)
Notched pupil	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)
Hole in the back of the eye	Not recorded
Impaired convergence	Not recorded
Paralysis or weakness of muscles within or surrounding outer part of eye	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Short opening between the eyelids	Very often (80–99%)
Low hairline at back of neck	Often (30–79%)
Narrow opening between the eyelids	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Abnormally small head	Sometimes (5–29%)
Asymmetry of the posterior head	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Drooping lower lip	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Eyelid spasm	Sometimes (5–29%)
Facial asymmetry	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Short neck	Sometimes (5–29%)
Skin tag in front of the ear	Sometimes (5–29%)
Webbed neck	Sometimes (5–29%)
Wide nasal bridge	Sometimes (5–29%)
Abnormal nasopharynx morphology	Not recorded
Bell's palsy	Not recorded
Blockage of the rear opening of the nasal cavity	Not recorded
Narrowing of the rear opening of the nasal cavity	Not recorded
Palpebral fissure narrowing on adduction	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Shoulder dislocation	Always
Joint stiffness	Very often (80–99%)
Abnormal vertebral segmentation and fusion	Often (30–79%)
Scoliosis	Often (30–79%)
Abnormal vertebral body morphology	Sometimes (5–29%)
Absent collarbone	Sometimes (5–29%)
Fused neck	Sometimes (5–29%)
Muscle degeneration	Sometimes (5–29%)
Permanent flexion of the finger or toe	Sometimes (5–29%)
Short collarbone	Sometimes (5–29%)
Vertebral fusion	Sometimes (5–29%)
Vertebral segmentation defect	Sometimes (5–29%)
Pectoralis major hypoplasia	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal rotation of the kidneys	Very often (80–99%)
Crossed fused renal ectopia	Very often (80–99%)
Horseshoe kidney	Very often (80–99%)
Absent/small kidney	Often (30–79%)
Bladder diverticulum	Often (30–79%)
Abnormal kidney location	Sometimes (5–29%)
Vesicoureteral reflux	Sometimes (5–29%)
Absent kidney	Not recorded
Hydronephrosis	Not recorded
Small kidneys	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Sometimes (5–29%)
Abnormal heart rate	Sometimes (5–29%)
Tetralogy of Fallot	Sometimes (5–29%)
Patent ductus arteriosus	Rarely (1–4%)
An opening in the wall separating the top two chambers of the heart	Not recorded
Aneurysm	Not recorded
Hole in heart wall separating two lower heart chambers	Not recorded

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Very often (80–99%)
Conductive deafness	Often (30–79%)
Sensorineural hearing impairment	Often (30–79%)
Abnormally shaped ears	Sometimes (5–29%)
Narrow ear canal	Sometimes (5–29%)
Narrow internal auditory canal	Sometimes (5–29%)
Slit-like opening of the exterior auditory meatus	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abnormal connection between rectum and vagina	Sometimes (5–29%)
Absent anus	Sometimes (5–29%)
Anorectal anomaly	Sometimes (5–29%)
Enlarged colon lacking nerve cells	Sometimes (5–29%)
Intestinal malrotation	Not recorded
Narrowing of anal opening	Not recorded

Abnormality of the integument

Trait	How often it is seen
Abnormal fingerprints	Often (30–79%)
Irregular hyperpigmentation	Sometimes (5–29%)
Patchy hypopigmentation of hair	Sometimes (5–29%)
Patchy loss of skin color	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Spina bifida occulta	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low platelet count	Often (30–79%)
Elevated white blood count	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Severe short stature	Very often (80–99%)
Growth delay as children	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 SALL4 and how often each is seen. Find out more at hpo.jax.org.

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