Trăsături

Trăsături asociate cu DVL3

dishevelled segment polarity protein 3

Human Phenotype Ontology asociază 105 trăsături cu DVL3, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Cleft tongue	Întotdeauna
Gum enlargement	Întotdeauna
Midface retrusion	Întotdeauna
Nasal tip, upturned	Întotdeauna
Short nose	Întotdeauna
Wide nasal bridge	Întotdeauna
Wide nose	Foarte des (80–99%)
Abnormality of the gums	Des (30–79%)
Absence of adult teeth	Des (30–79%)
Big calvaria	Des (30–79%)
Broad opening between the eyelids	Des (30–79%)
Central cleft palate	Des (30–79%)
Cleft palate	Des (30–79%)
Corners of eye widely separated	Des (30–79%)
Curly eyelashes	Des (30–79%)
Depressed nasal bridge	Des (30–79%)
Downturned corners of mouth	Des (30–79%)
Euryblepharon	Des (30–79%)
Eye folds	Des (30–79%)
Frontal bossing	Des (30–79%)
High, narrow palate	Des (30–79%)
Little lower jaw	Des (30–79%)
Long eyelashes	Des (30–79%)
Long philtrum	Des (30–79%)
Open bite	Des (30–79%)
Prominent forehead	Des (30–79%)
Receding chin	Des (30–79%)
Upward slanting of the opening between the eyelids	Des (30–79%)
Bad bite	Uneori (5–29%)
Cleft lip	Uneori (5–29%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
Extra teeth	Uneori (5–29%)
Failure of development of all teeth	Uneori (5–29%)
Failure of development of between one and six teeth	Uneori (5–29%)
Failure of development of more than six teeth	Uneori (5–29%)
High forehead	Uneori (5–29%)
Short neck	Uneori (5–29%)
Short philtrum	Uneori (5–29%)
Triangular mouth	Uneori (5–29%)
Webbed neck	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Curvature of digit	Întotdeauna
Disproportionately short middle portion of limb	Întotdeauna
Short fingers or toes	Întotdeauna
Short palm	Foarte des (80–99%)
Smaller or shorter than typical limbs	Foarte des (80–99%)
Curvature of little finger	Des (30–79%)
Short finger bones	Des (30–79%)
Avascular necrosis of the capital femoral epiphysis	Uneori (5–29%)
Broad thumb	Uneori (5–29%)
Coxa valga	Uneori (5–29%)
Coxa vara	Uneori (5–29%)
Elbow dislocation	Uneori (5–29%)
Finger syndactyly	Uneori (5–29%)
Hip dislocation	Uneori (5–29%)
Permanent flexion of the finger	Uneori (5–29%)
Webbed fingers or toes	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Short penis	Întotdeauna
Undescended testes	Întotdeauna
Underdeveloped penis	Foarte des (80–99%)
Small clitoris	Des (30–79%)
Small labia majora	Des (30–79%)
Underdeveloped inner lips	Des (30–79%)
Abnormality of the penis	Uneori (5–29%)
Epispadias	Uneori (5–29%)
Hypospadias	Uneori (5–29%)
Vesicoureteral reflux	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Abnormal vertebral body morphology	Des (30–79%)
Funnel chest	Des (30–79%)
Hunched back	Des (30–79%)
Missing part of vertebrae	Des (30–79%)
Scoliosis	Des (30–79%)
Abnormal formation of the hip	Uneori (5–29%)
Permanent flexion of the finger or toe	Uneori (5–29%)
Pigeon chest	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Hole in heart wall separating two lower heart chambers	Des (30–79%)
Patent ductus arteriosus	Uneori (5–29%)
Patent foramen ovale	Uneori (5–29%)
Pulmonary artery atresia	Uneori (5–29%)
Strawberry birthmark	Uneori (5–29%)
Tricuspid regurgitation	Uneori (5–29%)
Underdeveloped right heart	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormal fingernail development	Uneori (5–29%)
Hair loss	Uneori (5–29%)
Overgrowth and curving of fingernail	Uneori (5–29%)
Port-wine stain on eyelid	Uneori (5–29%)
Ridged fingernail	Uneori (5–29%)
Spinal dimple	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Umbilical hernia	Des (30–79%)
Anteriorly placed anus	Uneori (5–29%)
Femoral hernia	Uneori (5–29%)
Inguinal hernia	Uneori (5–29%)
Omphalocele	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Wide-set eyes	Foarte des (80–99%)
Blue outer white part of eyeball	Des (30–79%)
Bulging eye	Des (30–79%)
Cross-eyed	Uneori (5–29%)
Drooping upper eyelid	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Uneori (5–29%)
Hearing impairment	Uneori (5–29%)
Low-set ears	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Global developmental delay	Uneori (5–29%)
Intellectual disability	Uneori (5–29%)
Specific learning disability	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Întotdeauna
Severe short stature	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 DVL3 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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