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Kenmerken

Kenmerken gekoppeld aan SMC3

structural maintenance of chromosomes 3

De Human Phenotype Ontology koppelt 142 kenmerken aan SMC3, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.

Abnormality of head or neck

KenmerkHoe vaak het voorkomt
Curly eyelashesAltijd
Decreased volume of lipAltijd
Widely spaced teethAltijd
Abnormally small headHeel vaak (80–99%)
Broad head shapeHeel vaak (80–99%)
Bulbous noseHeel vaak (80–99%)
Delayed eruption of teethHeel vaak (80–99%)
Depressed nasal bridgeHeel vaak (80–99%)
Downturned corners of mouthHeel vaak (80–99%)
High palateHeel vaak (80–99%)
Highly arched eyebrowHeel vaak (80–99%)
Little lower jawHeel vaak (80–99%)
Long eyelashesHeel vaak (80–99%)
Long philtrumHeel vaak (80–99%)
Low frontal hairlineHeel vaak (80–99%)
Low hairline at back of neckHeel vaak (80–99%)
MonobrowHeel vaak (80–99%)
Nasal tip, upturnedHeel vaak (80–99%)
Short neckHeel vaak (80–99%)
Short noseHeel vaak (80–99%)
Thick eyebrowHeel vaak (80–99%)
Thin red part of the upper lipHeel vaak (80–99%)
Baggy eyesVaak (30–79%)
Blocked tear ductVaak (30–79%)
Broad nasal tipVaak (30–79%)
Development of small head that was not present at birthVaak (30–79%)
Eye foldsVaak (30–79%)
Inflammation of eyelidsVaak (30–79%)
Narrow foreheadVaak (30–79%)
Receding chinVaak (30–79%)
Short chinVaak (30–79%)
Small head present at birthVaak (30–79%)
Smooth philtrumVaak (30–79%)
Asymmetry of the posterior headSoms (5–29%)
Blockage of the rear opening of the nasal cavitySoms (5–29%)
Cleft palateSoms (5–29%)
Decreased size of toothSoms (5–29%)
Delayed closure of the soft spot on the skullSoms (5–29%)
Facial asymmetrySoms (5–29%)
Flat faceSoms (5–29%)
Frontal bossingSoms (5–29%)
Hooded eyelidSoms (5–29%)
Increased nuchal translucencySoms (5–29%)
Laterally extended eyebrowSoms (5–29%)

Abnormality of limbs

KenmerkHoe vaak het voorkomt
Attachment of thumb close to wristAltijd
Shortened 4th long bone of handAltijd
Webbed 2nd and 3rd toesAltijd
Fused toesHeel vaak (80–99%)
Short footHeel vaak (80–99%)
Shortened 1st long bone of handHeel vaak (80–99%)
Small handHeel vaak (80–99%)
Smaller or shorter than typical limbsHeel vaak (80–99%)
Bilateral single transverse palmar creasesVaak (30–79%)
Curvature of little fingerVaak (30–79%)
Elbow dislocationVaak (30–79%)
Fused forearm bonesVaak (30–79%)
Limited elbow movementVaak (30–79%)
Short 5th fingerVaak (30–79%)
Shortened 5th long bone of handVaak (30–79%)
Single transverse palmar creaseVaak (30–79%)
Abnormal morphology of ulnaSoms (5–29%)
Hip dislocationSoms (5–29%)
OligodactylySoms (5–29%)
TalipesSoms (5–29%)
Short fingers or toesNiet vastgelegd

Abnormality of the nervous system

KenmerkHoe vaak het voorkomt
Global developmental delayAltijd
Intellectual disabilityAltijd
Abnormally low-pitched voiceHeel vaak (80–99%)
Intellectual disability, severeHeel vaak (80–99%)
Abnormal speech patternVaak (30–79%)
AnxietyVaak (30–79%)
Attention deficitVaak (30–79%)
Delayed motor skillsVaak (30–79%)
Difficulty sleepingVaak (30–79%)
Obsessive compulsive behaviorVaak (30–79%)
Absent/small cerebellumSoms (5–29%)
AutismSoms (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cellsSoms (5–29%)
EpilepsySoms (5–29%)
Peripheral neuropathySoms (5–29%)
VentriculomegalySoms (5–29%)
Cognitive impairmentNiet vastgelegd
Poor speechNiet vastgelegd

Abnormality of the genitourinary system

KenmerkHoe vaak het voorkomt
HypospadiasVaak (30–79%)
Multicystic kidney dysplasiaVaak (30–79%)
Small labia majoraVaak (30–79%)
Underdeveloped penisVaak (30–79%)
Undescended testesVaak (30–79%)
Vesicoureteral refluxVaak (30–79%)
Abnormality of the uterusSoms (5–29%)
HydroureterSoms (5–29%)
Primary amenorrheaSoms (5–29%)
Renal failureSoms (5–29%)

Abnormality of the cardiovascular system

KenmerkHoe vaak het voorkomt
Patent foramen ovaleAltijd
Cutis marmorataVaak (30–79%)
Abnormal cardiovascular system morphologySoms (5–29%)
An opening in the wall separating the top two chambers of the heartSoms (5–29%)
Aortic valve has two leaflets rather than threeSoms (5–29%)
Hole in heart wall separating two lower heart chambersSoms (5–29%)
Narrowing of pulmonic valveSoms (5–29%)
Patent ductus arteriosusSoms (5–29%)

Abnormality of the eye

KenmerkHoe vaak het voorkomt
Close sightedVaak (30–79%)
Cornea of eye less than 10mm in diameterVaak (30–79%)
Drooping upper eyelidVaak (30–79%)
Phthisis bulbiVaak (30–79%)
Clouding of the lens of the eyeSoms (5–29%)
Cross-eyedSoms (5–29%)
GlaucomaSoms (5–29%)
Involuntary, rapid, rhythmic eye movementsSoms (5–29%)

Abnormality of the ear

KenmerkHoe vaak het voorkomt
Absent ear canalHeel vaak (80–99%)
Conductive deafnessVaak (30–79%)
Ears rotated toward back of headVaak (30–79%)
Hearing impairmentVaak (30–79%)
Low-set earsVaak (30–79%)
Sensorineural hearing impairmentVaak (30–79%)
Large earsSoms (5–29%)

Abnormality of the musculoskeletal system

KenmerkHoe vaak het voorkomt
Delayed bone maturationHeel vaak (80–99%)
Spasticity and rigidity of musclesHeel vaak (80–99%)
Joint stiffnessVaak (30–79%)
Abnormal formation of the hipSoms (5–29%)
Congenital diaphragmatic herniaSoms (5–29%)
Funnel chestSoms (5–29%)
Low muscle toneSoms (5–29%)

Abnormality of the digestive system

KenmerkHoe vaak het voorkomt
Feeding difficultiesAltijd
Acid refluxHeel vaak (80–99%)
Feeding difficulties in infancyVaak (30–79%)
Intestinal malrotationSoms (5–29%)
Pyloric stenosisSoms (5–29%)
VolvulusSoms (5–29%)

Growth abnormality

KenmerkHoe vaak het voorkomt
Short statureAltijd
Faltering weightVaak (30–79%)
Prenatal growth deficiencyVaak (30–79%)
Severe growth delay in childrenVaak (30–79%)
Truncal obesitySoms (5–29%)

Abnormality of the integument

KenmerkHoe vaak het voorkomt
Excessive hairinessHeel vaak (80–99%)
Excessive hairiness over bodyHeel vaak (80–99%)
port-wine stainSoms (5–29%)
Thick hairNiet vastgelegd

Abnormality of prenatal development or birth

KenmerkHoe vaak het voorkomt
Premature birthVaak (30–79%)
Prenatal movement abnormalitySoms (5–29%)

Abnormality of the breast

KenmerkHoe vaak het voorkomt
Small nipplesVaak (30–79%)

Abnormality of the endocrine system

KenmerkHoe vaak het voorkomt
Delayed pubertySoms (5–29%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

  • De Human Phenotype Ontology, versie 2026-09-01: de aan SMC3 gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.

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