Trăsături

Trăsături asociate cu MEGF8

multiple EGF like domains 8

Human Phenotype Ontology asociază 101 trăsături cu MEGF8, 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
Abnormality of the skull	Foarte des (80–99%)
Asymmetry of the posterior head	Foarte des (80–99%)
Big calvaria	Foarte des (80–99%)
Deformity of the skull	Foarte des (80–99%)
Eye folds	Foarte des (80–99%)
Narrow face	Foarte des (80–99%)
Oxycephaly	Foarte des (80–99%)
Prominent metopic ridge	Foarte des (80–99%)
Cloverleaf cranium shape	Des (30–79%)
Depressed nasal bridge	Des (30–79%)
Flat nose	Des (30–79%)
Highly arched eyebrow	Des (30–79%)
Midface retrusion	Des (30–79%)
Narrow palate	Des (30–79%)
Nasal tip, upturned	Des (30–79%)
Tall shaped head	Des (30–79%)
Upward slanting of the opening between the eyelids	Des (30–79%)
Wide nasal bridge	Des (30–79%)
Wide nose	Des (30–79%)
Bad bite	Uneori (5–29%)
Blocked tear duct	Uneori (5–29%)
Broad head shape	Uneori (5–29%)
Broad neck	Uneori (5–29%)
Collapsed nostrils	Uneori (5–29%)
Dental cavities	Uneori (5–29%)
Flattened bony protrusion above eyes	Uneori (5–29%)
Frontal bossing	Uneori (5–29%)
High palate	Uneori (5–29%)
High, narrow palate	Uneori (5–29%)
Long philtrum	Uneori (5–29%)
Low frontal hairline	Uneori (5–29%)
Lower eyelid folded out	Uneori (5–29%)
Prominent forehead	Uneori (5–29%)
Receding chin	Uneori (5–29%)
Short neck	Uneori (5–29%)
Sparse eyebrow	Uneori (5–29%)
Triangular head shape	Uneori (5–29%)
Webbed neck	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Finger syndactyly	Întotdeauna
Fused toes	Întotdeauna
Short fingers or toes	Întotdeauna
Curvature of little finger	Foarte des (80–99%)
More than five fingers or toes on hands or feet	Foarte des (80–99%)
Short digit	Foarte des (80–99%)
Short palm	Foarte des (80–99%)
Webbed fingers or toes	Foarte des (80–99%)
Absent middle bones of hand	Des (30–79%)
Broad thumb	Des (30–79%)
Club feet	Des (30–79%)
Extra little finger	Des (30–79%)
Hitchhiker thumb	Des (30–79%)
Knock knees	Des (30–79%)
Preaxial foot polydactyly	Des (30–79%)
Preaxial polydactyly	Des (30–79%)
Bilateral postaxial polydactyly	Uneori (5–29%)
Coxa vara	Uneori (5–29%)
Inability to straighten knee	Uneori (5–29%)
Permanent flexion of the finger	Uneori (5–29%)
Postaxial polydactyly	Uneori (5–29%)
Shortened 4th long bone of hand	Uneori (5–29%)
Single transverse palmar crease	Uneori (5–29%)
Webbed fingers	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiovascular system morphology	Des (30–79%)
Heart tip and four chambers point towards right side of body	Des (30–79%)
Patent ductus arteriosus	Des (30–79%)
All organs on wrong side of body	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Multiple small spleens	Uneori (5–29%)
Transposition of the great arteries	Uneori (5–29%)
Tricuspid regurgitation	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Underdevelopment of external reproductive organs	Foarte des (80–99%)
Undescended testes	Foarte des (80–99%)
Abnormal reproductive system morphology	Des (30–79%)
Bilateral cryptorchidism	Des (30–79%)
Scrotum surrounds penis	Uneori (5–29%)
Short penis	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Des (30–79%)
Permanent flexion of the finger or toe	Des (30–79%)
Pigeon chest	Des (30–79%)
Diaphragmatic eventration	Uneori (5–29%)
Funnel chest	Uneori (5–29%)
Kyphoscoliosis	Uneori (5–29%)

Abnormality of the ear

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

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Wide-set eyes	Foarte des (80–99%)
Abnormal cornea morphology	Des (30–79%)
Cross-eyed	Des (30–79%)
Blue outer white part of eyeball	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Intellectual disability	Foarte des (80–99%)
Brief seizures with staring spells	Uneori (5–29%)
Delayed ability to walk	Uneori (5–29%)
Global developmental delay	Uneori (5–29%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Wide-spaced nipples	Foarte des (80–99%)
Small nipples	Uneori (5–29%)
Accessory nipple	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Obesity	Foarte des (80–99%)
Tall stature	Foarte des (80–99%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Umbilical hernia	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Hanging skin	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 MEGF8 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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