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	Frequenza di osservazione
Short thighbone	Sempre
Underdeveloped inner large forearm bone	Sempre
Underdeveloped outer large forearm bone	Sempre
Abnormal morphology of the radius	Molto spesso (80–99%)
Abnormality of the thumb	Molto spesso (80–99%)
Aplasia/Hypoplasia of the radius	Molto spesso (80–99%)
Short outermost bone of the thumb	Molto spesso (80–99%)
Short thumb	Molto spesso (80–99%)
Small thenar eminence	Molto spesso (80–99%)
Absent thumb	Spesso (30–79%)
Broad bone of big toe	Spesso (30–79%)
Extra thumb	Spesso (30–79%)
Finger-like thumb	Spesso (30–79%)
Fused forearm bones	Spesso (30–79%)
Fused wrist bones	Spesso (30–79%)
Fusion of wrist bones	Spesso (30–79%)
Gap between 1st and 2nd toes	Spesso (30–79%)
Radial ray deficiency	Spesso (30–79%)
Short big toe	Spesso (30–79%)
Upper limb undergrowth	Spesso (30–79%)
Absent/small thumb	A volte (5–29%)
Club feet	A volte (5–29%)
Finger syndactyly	A volte (5–29%)
Fused toes	A volte (5–29%)
Missing outer large bone of forearm	A volte (5–29%)
Preaxial polydactyly	A volte (5–29%)
Short fingers or toes	A volte (5–29%)
Short humerus	A volte (5–29%)
Small pec muscle	A volte (5–29%)
Talipes	A volte (5–29%)
Absent long bone of hand	Non registrato
Dropped arches	Non registrato
Hypoplasia of deltoid muscle	Non registrato
Limited elbow movement	Non registrato
Limited movement of hinge joints	Non registrato
Limited wrist movement	Non registrato
Radial deviation of the hand	Non registrato
Shortened 1st long bone of hand	Non registrato
Small carpal bones	Non registrato
Underdevelopment of upper limb muscles	Non registrato
Webbed fingers or toes	Non registrato

Abnormality of the eye

Trait	Frequenza di osservazione
Abnormality of eye movement	Molto spesso (80–99%)
Abnormally small eyeball	Molto spesso (80–99%)
Cross-eyed	Molto spesso (80–99%)
Duane anomaly	Molto spesso (80–99%)
Oculomotor apraxia	Molto spesso (80–99%)
Oculomotor nerve palsy	Molto spesso (80–99%)
Deeply set eye	Spesso (30–79%)
Impaired ocular abduction	Spesso (30–79%)
Impaired ocular adduction	Spesso (30–79%)
Optic disc coloboma	Spesso (30–79%)
Optic disc hypoplasia	Spesso (30–79%)
Paroxysmal tonic upgaze	Spesso (30–79%)
Visual impairment	Spesso (30–79%)
Abnormality of the pupil	A volte (5–29%)
Absent iris	A volte (5–29%)
Birth defect that causes a hole in the innermost layer at the back of the eye	A volte (5–29%)
Cat eye	A volte (5–29%)
Central heterochromia	A volte (5–29%)
Clouding of the lens of the eye	A volte (5–29%)
Compensatory head posture	A volte (5–29%)
Cornea of eye less than 10mm in diameter	A volte (5–29%)
Drooping upper eyelid	A volte (5–29%)
Gustatory lacrimation	A volte (5–29%)
Hypoplastic iris stroma	A volte (5–29%)
Involuntary, rapid, rhythmic eye movements	A volte (5–29%)
Lazy eye	A volte (5–29%)
Marcus Gunn jaw winking synkinesis	A volte (5–29%)
Notched pupil	A volte (5–29%)
Wide-set eyes	A volte (5–29%)
Hole in the back of the eye	Non registrato
Impaired convergence	Non registrato
Paralysis or weakness of muscles within or surrounding outer part of eye	Non registrato

Abnormality of head or neck

Trait	Frequenza di osservazione
Short opening between the eyelids	Molto spesso (80–99%)
Low hairline at back of neck	Spesso (30–79%)
Narrow opening between the eyelids	Spesso (30–79%)
Nasal tip, upturned	Spesso (30–79%)
Abnormally small head	A volte (5–29%)
Asymmetry of the posterior head	A volte (5–29%)
Cleft palate	A volte (5–29%)
Drooping lower lip	A volte (5–29%)
Eye folds	A volte (5–29%)
Eyelid spasm	A volte (5–29%)
Facial asymmetry	A volte (5–29%)
Frontal bossing	A volte (5–29%)
Little lower jaw	A volte (5–29%)
Short neck	A volte (5–29%)
Skin tag in front of the ear	A volte (5–29%)
Webbed neck	A volte (5–29%)
Wide nasal bridge	A volte (5–29%)
Abnormal nasopharynx morphology	Non registrato
Bell's palsy	Non registrato
Blockage of the rear opening of the nasal cavity	Non registrato
Narrowing of the rear opening of the nasal cavity	Non registrato
Palpebral fissure narrowing on adduction	Non registrato

Abnormality of the musculoskeletal system

Trait	Frequenza di osservazione
Shoulder dislocation	Sempre
Joint stiffness	Molto spesso (80–99%)
Abnormal vertebral segmentation and fusion	Spesso (30–79%)
Scoliosis	Spesso (30–79%)
Abnormal vertebral body morphology	A volte (5–29%)
Absent collarbone	A volte (5–29%)
Fused neck	A volte (5–29%)
Muscle degeneration	A volte (5–29%)
Permanent flexion of the finger or toe	A volte (5–29%)
Short collarbone	A volte (5–29%)
Vertebral fusion	A volte (5–29%)
Vertebral segmentation defect	A volte (5–29%)
Pectoralis major hypoplasia	Non registrato

Abnormality of the genitourinary system

Trait	Frequenza di osservazione
Abnormal rotation of the kidneys	Molto spesso (80–99%)
Crossed fused renal ectopia	Molto spesso (80–99%)
Horseshoe kidney	Molto spesso (80–99%)
Absent/small kidney	Spesso (30–79%)
Bladder diverticulum	Spesso (30–79%)
Abnormal kidney location	A volte (5–29%)
Vesicoureteral reflux	A volte (5–29%)
Absent kidney	Non registrato
Hydronephrosis	Non registrato
Small kidneys	Non registrato

Abnormality of the cardiovascular system

Trait	Frequenza di osservazione
Abnormal cardiovascular system morphology	A volte (5–29%)
Abnormal heart rate	A volte (5–29%)
Tetralogy of Fallot	A volte (5–29%)
Patent ductus arteriosus	Raramente (1–4%)
An opening in the wall separating the top two chambers of the heart	Non registrato
Aneurysm	Non registrato
Hole in heart wall separating two lower heart chambers	Non registrato

Abnormality of the ear

Trait	Frequenza di osservazione
Hearing impairment	Molto spesso (80–99%)
Conductive deafness	Spesso (30–79%)
Sensorineural hearing impairment	Spesso (30–79%)
Abnormally shaped ears	A volte (5–29%)
Narrow ear canal	A volte (5–29%)
Narrow internal auditory canal	A volte (5–29%)
Slit-like opening of the exterior auditory meatus	A volte (5–29%)

Abnormality of the digestive system

Trait	Frequenza di osservazione
Abnormal connection between rectum and vagina	A volte (5–29%)
Absent anus	A volte (5–29%)
Anorectal anomaly	A volte (5–29%)
Enlarged colon lacking nerve cells	A volte (5–29%)
Intestinal malrotation	Non registrato
Narrowing of anal opening	Non registrato

Abnormality of the integument

Trait	Frequenza di osservazione
Abnormal fingerprints	Spesso (30–79%)
Irregular hyperpigmentation	A volte (5–29%)
Patchy hypopigmentation of hair	A volte (5–29%)
Patchy loss of skin color	A volte (5–29%)

Abnormality of the nervous system

Trait	Frequenza di osservazione
Epilepsy	A volte (5–29%)
Global developmental delay	A volte (5–29%)
Spina bifida occulta	A volte (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Frequenza di osservazione
Low platelet count	Spesso (30–79%)
Elevated white blood count	A volte (5–29%)

Growth abnormality

Trait	Frequenza di osservazione
Severe short stature	Molto spesso (80–99%)
Growth delay as children	A volte (5–29%)

Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.

Fonte dei dati

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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