Trăsături

Trăsături asociate cu SMC3

structural maintenance of chromosomes 3

Human Phenotype Ontology asociază 142 trăsături cu SMC3, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

SMC3

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Curly eyelashes	Întotdeauna
Decreased volume of lip	Întotdeauna
Widely spaced teeth	Întotdeauna
Abnormally small head	Foarte des (80–99%)
Broad head shape	Foarte des (80–99%)
Bulbous nose	Foarte des (80–99%)
Delayed eruption of teeth	Foarte des (80–99%)
Depressed nasal bridge	Foarte des (80–99%)
Downturned corners of mouth	Foarte des (80–99%)
High palate	Foarte des (80–99%)
Highly arched eyebrow	Foarte des (80–99%)
Little lower jaw	Foarte des (80–99%)
Long eyelashes	Foarte des (80–99%)
Long philtrum	Foarte des (80–99%)
Low frontal hairline	Foarte des (80–99%)
Low hairline at back of neck	Foarte des (80–99%)
Monobrow	Foarte des (80–99%)
Nasal tip, upturned	Foarte des (80–99%)
Short neck	Foarte des (80–99%)
Short nose	Foarte des (80–99%)
Thick eyebrow	Foarte des (80–99%)
Thin red part of the upper lip	Foarte des (80–99%)
Baggy eyes	Des (30–79%)
Blocked tear duct	Des (30–79%)
Broad nasal tip	Des (30–79%)
Development of small head that was not present at birth	Des (30–79%)
Eye folds	Des (30–79%)
Inflammation of eyelids	Des (30–79%)
Narrow forehead	Des (30–79%)
Receding chin	Des (30–79%)
Short chin	Des (30–79%)
Small head present at birth	Des (30–79%)
Smooth philtrum	Des (30–79%)
Asymmetry of the posterior head	Uneori (5–29%)
Blockage of the rear opening of the nasal cavity	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Decreased size of tooth	Uneori (5–29%)
Delayed closure of the soft spot on the skull	Uneori (5–29%)
Facial asymmetry	Uneori (5–29%)
Flat face	Uneori (5–29%)
Frontal bossing	Uneori (5–29%)
Hooded eyelid	Uneori (5–29%)
Increased nuchal translucency	Uneori (5–29%)
Laterally extended eyebrow	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Attachment of thumb close to wrist	Întotdeauna
Shortened 4th long bone of hand	Întotdeauna
Webbed 2nd and 3rd toes	Întotdeauna
Fused toes	Foarte des (80–99%)
Short foot	Foarte des (80–99%)
Shortened 1st long bone of hand	Foarte des (80–99%)
Small hand	Foarte des (80–99%)
Smaller or shorter than typical limbs	Foarte des (80–99%)
Bilateral single transverse palmar creases	Des (30–79%)
Curvature of little finger	Des (30–79%)
Elbow dislocation	Des (30–79%)
Fused forearm bones	Des (30–79%)
Limited elbow movement	Des (30–79%)
Short 5th finger	Des (30–79%)
Shortened 5th long bone of hand	Des (30–79%)
Single transverse palmar crease	Des (30–79%)
Abnormal morphology of ulna	Uneori (5–29%)
Hip dislocation	Uneori (5–29%)
Oligodactyly	Uneori (5–29%)
Talipes	Uneori (5–29%)
Short fingers or toes	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Global developmental delay	Întotdeauna
Intellectual disability	Întotdeauna
Abnormally low-pitched voice	Foarte des (80–99%)
Intellectual disability, severe	Foarte des (80–99%)
Abnormal speech pattern	Des (30–79%)
Anxiety	Des (30–79%)
Attention deficit	Des (30–79%)
Delayed motor skills	Des (30–79%)
Difficulty sleeping	Des (30–79%)
Obsessive compulsive behavior	Des (30–79%)
Absent/small cerebellum	Uneori (5–29%)
Autism	Uneori (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Peripheral neuropathy	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)
Cognitive impairment	Neînregistrat
Poor speech	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Hypospadias	Des (30–79%)
Multicystic kidney dysplasia	Des (30–79%)
Small labia majora	Des (30–79%)
Underdeveloped penis	Des (30–79%)
Undescended testes	Des (30–79%)
Vesicoureteral reflux	Des (30–79%)
Abnormality of the uterus	Uneori (5–29%)
Hydroureter	Uneori (5–29%)
Primary amenorrhea	Uneori (5–29%)
Renal failure	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Patent foramen ovale	Întotdeauna
Cutis marmorata	Des (30–79%)
Abnormal cardiovascular system morphology	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Aortic valve has two leaflets rather than three	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Narrowing of pulmonic valve	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Close sighted	Des (30–79%)
Cornea of eye less than 10mm in diameter	Des (30–79%)
Drooping upper eyelid	Des (30–79%)
Phthisis bulbi	Des (30–79%)
Clouding of the lens of the eye	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Glaucoma	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Absent ear canal	Foarte des (80–99%)
Conductive deafness	Des (30–79%)
Ears rotated toward back of head	Des (30–79%)
Hearing impairment	Des (30–79%)
Low-set ears	Des (30–79%)
Sensorineural hearing impairment	Des (30–79%)
Large ears	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Delayed bone maturation	Foarte des (80–99%)
Spasticity and rigidity of muscles	Foarte des (80–99%)
Joint stiffness	Des (30–79%)
Abnormal formation of the hip	Uneori (5–29%)
Congenital diaphragmatic hernia	Uneori (5–29%)
Funnel chest	Uneori (5–29%)
Low muscle tone	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Întotdeauna
Acid reflux	Foarte des (80–99%)
Feeding difficulties in infancy	Des (30–79%)
Intestinal malrotation	Uneori (5–29%)
Pyloric stenosis	Uneori (5–29%)
Volvulus	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Întotdeauna
Faltering weight	Des (30–79%)
Prenatal growth deficiency	Des (30–79%)
Severe growth delay in children	Des (30–79%)
Truncal obesity	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Excessive hairiness	Foarte des (80–99%)
Excessive hairiness over body	Foarte des (80–99%)
port-wine stain	Uneori (5–29%)
Thick hair	Neînregistrat

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Premature birth	Des (30–79%)
Prenatal movement abnormality	Uneori (5–29%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Small nipples	Des (30–79%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Delayed puberty	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 SMC3 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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