Trăsături

Trăsături asociate cu TBX4

T-box transcription factor 4

Human Phenotype Ontology asociază 98 trăsături cu TBX4, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

TBX4

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Small kneecap	Întotdeauna
Abnormality of the knee	Foarte des (80–99%)
Absent/small kneecap	Foarte des (80–99%)
Club feet	Foarte des (80–99%)
Long fingers	Foarte des (80–99%)
Long toe	Foarte des (80–99%)
Tetraamelia	Foarte des (80–99%)
Acromelia of the lower limbs	Des (30–79%)
Amelia involving the upper limbs	Des (30–79%)
Bilateral single transverse palmar creases	Uneori (5–29%)
Curvature of little finger	Uneori (5–29%)
Dropped arches	Uneori (5–29%)
Gap between 1st and 2nd toes	Uneori (5–29%)
Shallow acetabular fossae	Uneori (5–29%)
Absent kneecap	Neînregistrat
Amelia	Neînregistrat
Coxa vara	Neînregistrat
Dislocated kneecap	Neînregistrat
Flat end part of innermost thighbone	Neînregistrat
Fused ankle bones	Neînregistrat
Fusion of foot joint	Neînregistrat
Hypoplasia of the lesser trochanter	Neînregistrat
Short thighbone	Neînregistrat
Wide end part of innermost thighbone	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Cleft of the mouth	Foarte des (80–99%)
Decreased nasal size	Foarte des (80–99%)
Abnormally small head	Des (30–79%)
Frontal bossing	Des (30–79%)
Full cheeks	Des (30–79%)
Little lower jaw	Des (30–79%)
Narrow mouth	Des (30–79%)
Non-midline cleft of the upper lip	Des (30–79%)
Bulbous nose	Uneori (5–29%)
Cleft nasal bridge	Uneori (5–29%)
Depressed nasal bridge	Uneori (5–29%)
Eye folds	Uneori (5–29%)
Highly arched eyebrow	Uneori (5–29%)
Inflammation of eyelids	Uneori (5–29%)
Long eyelashes	Uneori (5–29%)
Widely spaced teeth	Uneori (5–29%)
Zygomatic flattening	Uneori (5–29%)
Cleft palate	Neînregistrat
High palate	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Abnormal shape of end part of bone	Foarte des (80–99%)
Aplasia/Hypoplasia involving the pelvis	Foarte des (80–99%)
Abnormal bone maturation of vertebra	Des (30–79%)
Abnormal formation of the hip	Des (30–79%)
Abnormal shape of pelvic girdle bone	Des (30–79%)
Abnormality of the ribs	Des (30–79%)
Missing ribs	Des (30–79%)
Congenital contracture	Uneori (5–29%)
Coxa magna	Uneori (5–29%)
Limitation of joint mobility	Uneori (5–29%)
Low muscle tone	Uneori (5–29%)
Scoliosis	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormally small eyeball	Des (30–79%)
Cat eye	Des (30–79%)
Clouding of the lens of the eye	Des (30–79%)
Cornea of eye less than 10mm in diameter	Des (30–79%)
Optic atrophy	Des (30–79%)
Septo-optic dysplasia	Des (30–79%)
Cross-eyed	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Delayed speech and language development	Foarte des (80–99%)
Mild global developmental delay	Foarte des (80–99%)
Moderate global developmental delay	Foarte des (80–99%)
Too much cerebrospinal fluid in the brain	Foarte des (80–99%)
Agenesis of corpus callosum	Des (30–79%)
Behavioral abnormality	Uneori (5–29%)
Increased reflexes	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormally closed or absent vagina	Des (30–79%)
Multicystic kidney dysplasia	Des (30–79%)
Smaller than typical growth of scrotum	Des (30–79%)
Underdeveloped penis	Des (30–79%)
Undescended testes	Des (30–79%)
Scrotum surrounds penis	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Absent/small lungs	Foarte des (80–99%)
Abnormal lung lobation	Des (30–79%)
Abnormality of the larynx	Des (30–79%)
Narrowing of windpipe	Des (30–79%)
Breathing difficulty	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiac septum morphology	Des (30–79%)
Increased blood pressure in blood vessels of lungs	Des (30–79%)
Patent ductus arteriosus	Des (30–79%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Small ears	Foarte des (80–99%)
Chronic infections of the middle ear	Uneori (5–29%)
Hearing impairment	Uneori (5–29%)
Prominent ear	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Prenatal growth deficiency	Des (30–79%)
Short stature	Des (30–79%)
Faltering weight	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Absent anus	Des (30–79%)
Acid reflux	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Spinal dimple	Uneori (5–29%)
Underdeveloped toenails	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
High levels of amniotic fluid	Foarte des (80–99%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Absent/small nipples	Des (30–79%)

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 TBX4 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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