Trăsături

Trăsături asociate cu DVL1

dishevelled segment polarity protein 1

Human Phenotype Ontology asociază 142 trăsături cu DVL1, 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
Big calvaria	Întotdeauna
Calvarial osteosclerosis	Întotdeauna
Depressed nasal bridge	Întotdeauna
Failure of development of more than six teeth	Întotdeauna
Frontal bossing	Întotdeauna
Full upper lip	Întotdeauna
High forehead	Întotdeauna
High palate	Întotdeauna
Midface retrusion	Întotdeauna
Short nose	Întotdeauna
Triangular mouth	Întotdeauna
Wide mouth	Întotdeauna
Wide nasal bridge	Întotdeauna
Gum enlargement	Foarte des (80–99%)
Long philtrum	Foarte des (80–99%)
Nasal tip, upturned	Foarte des (80–99%)
Wide nose	Foarte des (80–99%)
Abnormality of the gums	Des (30–79%)
Broad opening between the eyelids	Des (30–79%)
Central cleft palate	Des (30–79%)
Cleft palate	Des (30–79%)
Cleft tongue	Des (30–79%)
Curly eyelashes	Des (30–79%)
Delayed loss of baby teeth	Des (30–79%)
Downturned corners of mouth	Des (30–79%)
Downward slanting of the opening between the eyelids	Des (30–79%)
Euryblepharon	Des (30–79%)
Eye folds	Des (30–79%)
Flat face	Des (30–79%)
High, narrow palate	Des (30–79%)
Increased thickness of skull cap	Des (30–79%)
Little lower jaw	Des (30–79%)
Long eyelashes	Des (30–79%)
Open bite	Des (30–79%)
Prominent forehead	Des (30–79%)
Receding chin	Des (30–79%)
Short lingual frenulum	Des (30–79%)
Thin red part of the upper lip	Des (30–79%)
Upward slanting of the opening between the eyelids	Des (30–79%)
Wider-than-typical soft spot of skull	Des (30–79%)
Zygomatic flattening	Des (30–79%)
Absent uvula	Uneori (5–29%)
Cleft soft palate	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%)
Short neck	Uneori (5–29%)
Short philtrum	Uneori (5–29%)
Abnormal dentition	Neînregistrat
Abnormally large tongue	Neînregistrat
Bad bite	Neînregistrat
Cleft of the mouth	Neînregistrat
Delayed eruption of teeth	Neînregistrat
Dental crowding	Neînregistrat
Narrow palate	Neînregistrat
Short hard palate	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Hip dislocation	Întotdeauna
Short fingers or toes	Întotdeauna
Underdeveloped outer large forearm bone	Întotdeauna
Broad big toe	Foarte des (80–99%)
Curvature of digit	Foarte des (80–99%)
Short palm	Foarte des (80–99%)
Smaller or shorter than typical limbs	Foarte des (80–99%)
Broad thumb	Des (30–79%)
Curvature of little finger	Des (30–79%)
Dislocated radial head	Des (30–79%)
Disproportionately short middle portion of limb	Des (30–79%)
Limited elbow extension and supination	Des (30–79%)
Notched outermost bone of the thumb	Des (30–79%)
Partial duplication of hand bones	Des (30–79%)
Partial duplication of the thumb bones	Des (30–79%)
Avascular necrosis of the capital femoral epiphysis	Uneori (5–29%)
Coxa valga	Uneori (5–29%)
Coxa vara	Uneori (5–29%)
Elbow dislocation	Uneori (5–29%)
Finger syndactyly	Uneori (5–29%)
Permanent flexion of the finger	Uneori (5–29%)
Broad toe	Neînregistrat
Disproportionately short upper portion of limb	Neînregistrat
Duplication of the outermost bone of hand	Neînregistrat
Notched outermost bones of toes	Neînregistrat
Radial deviation of finger	Neînregistrat
Short middle bone of the little finger	Neînregistrat
Short outermost finger bone	Neînregistrat
Small hand	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Limited hip extension	Întotdeauna
Short long bone	Foarte des (80–99%)
Abnormal vertebral body morphology	Des (30–79%)
Funnel chest	Des (30–79%)
Kyphoscoliosis	Des (30–79%)
Missing part of vertebrae	Des (30–79%)
Permanent flexion of the finger or toe	Des (30–79%)
Scoliosis	Des (30–79%)
Abnormal formation of the hip	Uneori (5–29%)
Pigeon chest	Uneori (5–29%)
Delayed bone maturation	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Short penis	Întotdeauna
Underdeveloped penis	Foarte des (80–99%)
Undescended testes	Foarte des (80–99%)
Hypospadias	Des (30–79%)
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%)
Hydronephrosis	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Spinal dimple	Des (30–79%)
Abnormal fingernail development	Uneori (5–29%)
Atypical nail growth	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%)
port-wine stain	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Low-set ears	Întotdeauna
Mixed hearing impairment	Întotdeauna
Conductive deafness	Des (30–79%)
Ears rotated toward back of head	Des (30–79%)
Hearing impairment	Des (30–79%)
Sensorineural hearing impairment	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Global developmental delay	Întotdeauna
Thin corpus callosum	Întotdeauna
Obstructive sleep apnea	Des (30–79%)
Epilepsy	Uneori (5–29%)
Intellectual disability	Uneori (5–29%)
Specific learning disability	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Umbilical hernia	Des (30–79%)
Femoral hernia	Uneori (5–29%)
Inguinal hernia	Uneori (5–29%)
Omphalocele	Uneori (5–29%)
Extra kidney	Neînregistrat

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 cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal atrial septum morphology	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Strawberry birthmark	Uneori (5–29%)
Right ventricular outlet tract obstruction	Neînregistrat

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 DVL1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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