Trăsături

Trăsături asociate cu SALL4

spalt like transcription factor 4

Human Phenotype Ontology asociază 149 trăsături cu SALL4, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

SALL4

Abnormality of limbs

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

Abnormality of the eye

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

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Short opening between the eyelids	Foarte des (80–99%)
Low hairline at back of neck	Des (30–79%)
Narrow opening between the eyelids	Des (30–79%)
Nasal tip, upturned	Des (30–79%)
Abnormally small head	Uneori (5–29%)
Asymmetry of the posterior head	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Drooping lower lip	Uneori (5–29%)
Eye folds	Uneori (5–29%)
Eyelid spasm	Uneori (5–29%)
Facial asymmetry	Uneori (5–29%)
Frontal bossing	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Short neck	Uneori (5–29%)
Skin tag in front of the ear	Uneori (5–29%)
Webbed neck	Uneori (5–29%)
Wide nasal bridge	Uneori (5–29%)
Abnormal nasopharynx morphology	Neînregistrat
Bell's palsy	Neînregistrat
Blockage of the rear opening of the nasal cavity	Neînregistrat
Narrowing of the rear opening of the nasal cavity	Neînregistrat
Palpebral fissure narrowing on adduction	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Shoulder dislocation	Întotdeauna
Joint stiffness	Foarte des (80–99%)
Abnormal vertebral segmentation and fusion	Des (30–79%)
Scoliosis	Des (30–79%)
Abnormal vertebral body morphology	Uneori (5–29%)
Absent collarbone	Uneori (5–29%)
Fused neck	Uneori (5–29%)
Muscle degeneration	Uneori (5–29%)
Permanent flexion of the finger or toe	Uneori (5–29%)
Short collarbone	Uneori (5–29%)
Vertebral fusion	Uneori (5–29%)
Vertebral segmentation defect	Uneori (5–29%)
Pectoralis major hypoplasia	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormal rotation of the kidneys	Foarte des (80–99%)
Crossed fused renal ectopia	Foarte des (80–99%)
Horseshoe kidney	Foarte des (80–99%)
Absent/small kidney	Des (30–79%)
Bladder diverticulum	Des (30–79%)
Abnormal kidney location	Uneori (5–29%)
Vesicoureteral reflux	Uneori (5–29%)
Absent kidney	Neînregistrat
Hydronephrosis	Neînregistrat
Small kidneys	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiovascular system morphology	Uneori (5–29%)
Abnormal heart rate	Uneori (5–29%)
Tetralogy of Fallot	Uneori (5–29%)
Patent ductus arteriosus	Rar (1–4%)
An opening in the wall separating the top two chambers of the heart	Neînregistrat
Aneurysm	Neînregistrat
Hole in heart wall separating two lower heart chambers	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Hearing impairment	Foarte des (80–99%)
Conductive deafness	Des (30–79%)
Sensorineural hearing impairment	Des (30–79%)
Abnormally shaped ears	Uneori (5–29%)
Narrow ear canal	Uneori (5–29%)
Narrow internal auditory canal	Uneori (5–29%)
Slit-like opening of the exterior auditory meatus	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Abnormal connection between rectum and vagina	Uneori (5–29%)
Absent anus	Uneori (5–29%)
Anorectal anomaly	Uneori (5–29%)
Enlarged colon lacking nerve cells	Uneori (5–29%)
Intestinal malrotation	Neînregistrat
Narrowing of anal opening	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormal fingerprints	Des (30–79%)
Irregular hyperpigmentation	Uneori (5–29%)
Patchy hypopigmentation of hair	Uneori (5–29%)
Patchy loss of skin color	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Epilepsy	Uneori (5–29%)
Global developmental delay	Uneori (5–29%)
Spina bifida occulta	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Low platelet count	Des (30–79%)
Elevated white blood count	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Severe short stature	Foarte des (80–99%)
Growth delay as children	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu SALL4 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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