Trăsături

Trăsături asociate cu RECQL4

RecQ like helicase 4

Human Phenotype Ontology asociază 211 trăsături cu RECQL4, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

RECQL4

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Decreased size of teeth	Întotdeauna
Delayed eruption of teeth	Întotdeauna
Depressed nasal bridge	Întotdeauna
Eye folds	Întotdeauna
High palate	Întotdeauna
Little lower jaw	Întotdeauna
Narrow eyelid opening	Întotdeauna
Sparse scalp hair	Întotdeauna
Broad head shape	Foarte des (80–99%)
Frontal bossing	Foarte des (80–99%)
High, prominent forehead	Foarte des (80–99%)
Wide fontanelles	Foarte des (80–99%)
Abnormal dentition	Des (30–79%)
Absent eyebrow	Des (30–79%)
Absent eyelashes	Des (30–79%)
Cleft palate	Des (30–79%)
Deformity of the skull	Des (30–79%)
Narrow mouth	Des (30–79%)
Short nose	Des (30–79%)
Slender nose	Des (30–79%)
Sparse eyebrow	Des (30–79%)
Sparse eyelashes	Des (30–79%)
Sparse or absent eyebrows	Des (30–79%)
Sparse or absent eyelashes	Des (30–79%)
Wider-than-typical soft spot of skull	Des (30–79%)
Abnormal tooth enamel	Uneori (5–29%)
Absence of adult teeth	Uneori (5–29%)
Boxer's nasal deformity	Uneori (5–29%)
Broad forehead	Uneori (5–29%)
Coronal craniosynostosis	Uneori (5–29%)
Decreased number of teeth	Uneori (5–29%)
Decreased size of tooth	Uneori (5–29%)
Decreased volume of lip	Uneori (5–29%)
Dental cavities	Uneori (5–29%)
Facial puffiness	Uneori (5–29%)
Lambdoidal craniosynostosis	Uneori (5–29%)
Long nose	Uneori (5–29%)
Long upper lip	Uneori (5–29%)
Narrow face	Uneori (5–29%)
Narrow nasal bridge	Uneori (5–29%)
Oxycephaly	Uneori (5–29%)
Prominent forehead	Uneori (5–29%)
Prominent nasal bridge	Uneori (5–29%)
Tall shaped head	Uneori (5–29%)
Bicoronal synostosis	Neînregistrat
Bifid uvula	Neînregistrat
Big lower jaw	Neînregistrat
Downward slanting of the opening between the eyelids	Neînregistrat
Early closure of midline skull joint	Neînregistrat
Extra teeth	Neînregistrat
Flat forehead	Neînregistrat
High, narrow palate	Neînregistrat
Long face	Neînregistrat
Midface capillary hemangioma	Neînregistrat
Narrow opening between the eyelids	Neînregistrat
Narrowing of the rear opening of the nasal cavity	Neînregistrat
Short chin	Neînregistrat
Underdeveloped tissue around nostril	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Aplasia/Hypoplasia of the radius	Întotdeauna
Small hand	Întotdeauna
Absent fingers	Foarte des (80–99%)
Absent/small kneecap	Foarte des (80–99%)
Absent/small thumb	Foarte des (80–99%)
Abnormal shape of long bones of hand	Des (30–79%)
Abnormal wrist bones	Des (30–79%)
Abnormality of limbs	Des (30–79%)
Absent thumb	Des (30–79%)
Bowing of the long bones	Des (30–79%)
Oligodactyly	Des (30–79%)
Underdeveloped outer large forearm bone	Des (30–79%)
Abnormal ulnar metaphysis morphology	Uneori (5–29%)
Abnormality of the radial head	Uneori (5–29%)
Absent kneecap	Uneori (5–29%)
Absent/small bones of the upper limbs	Uneori (5–29%)
Forearm undergrowth	Uneori (5–29%)
Fusion involving bones of the upper limbs	Uneori (5–29%)
Increased bone density in wide portion of long bone	Uneori (5–29%)
Metaphyseal striations	Uneori (5–29%)
Missing outer large bone of forearm	Uneori (5–29%)
Outward bow-leggedness	Uneori (5–29%)
Plantar hyperkeratosis	Uneori (5–29%)
Radial deviation of the hand	Uneori (5–29%)
Short finger bones	Uneori (5–29%)
Shortened long bone of hand	Uneori (5–29%)
Small kneecap	Uneori (5–29%)
Fused finger bones	Rar (1–4%)
Absent long bone of hand	Neînregistrat
Absent wrist bone	Neînregistrat
Aphalangy of the hands	Neînregistrat
Club feet	Neînregistrat
Curving of inner forearm bone	Neînregistrat
Dislocated hip since birth	Neînregistrat
Forearm reduction defects	Neînregistrat
Fused wrist bones	Neînregistrat
Limited elbow movement	Neînregistrat
Short foot	Neînregistrat
Short humerus	Neînregistrat
Short palm	Neînregistrat
Short thumb	Neînregistrat
Underdeveloped inner large forearm bone	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormally small eyeball	Întotdeauna
Wide-set eyes	Întotdeauna
Bulging eye	Foarte des (80–99%)
Abnormally close eyes	Uneori (5–29%)
Astigmatism	Uneori (5–29%)
Clouding of the lens of the eye at birth	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Optic nerve hypoplasia	Uneori (5–29%)
Severe near sightedness	Uneori (5–29%)
Clouding of the lens of the eye	Rar (1–4%)
Juvenile cataract	Rar (1–4%)
Close sighted	Neînregistrat
Cornea of eye less than 10mm in diameter	Neînregistrat
Cross-eyed	Neînregistrat
Glaucoma	Neînregistrat
Optic atrophy	Neînregistrat
Zonular cataract	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Poikiloderma	Întotdeauna
Patchy darkened skin	Foarte des (80–99%)
Patchy lightened skin	Foarte des (80–99%)
Atypical nail growth	Des (30–79%)
Poor nail formation	Des (30–79%)
Skin degeneration	Des (30–79%)
Sparse hair	Des (30–79%)
Abnormal blistering of the skin	Uneori (5–29%)
Alopecia totalis	Uneori (5–29%)
Basal cell carcinoma	Uneori (5–29%)
Skin cancer	Uneori (5–29%)
Squamous cell carcinoma	Uneori (5–29%)
Porokeratosis	Rar (1–4%)
Hair loss	Neînregistrat
Mottled skin coloring	Neînregistrat
Photosensitive skin	Neînregistrat
Premature graying of hair	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Bone cell cancer	Des (30–79%)
Joint dislocation	Des (30–79%)
Multiple skeletal anomalies	Des (30–79%)
Abnormal trabecular bone morphology	Uneori (5–29%)
Delayed bone maturation	Uneori (5–29%)
Osteopenia	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Spontaneous fracture	Uneori (5–29%)
Calcium buildup in soft tissues of body	Rar (1–4%)
Abnormal vertebral morphology	Neînregistrat
Kyphoscoliosis	Neînregistrat
Limited shoulder movement	Neînregistrat
Osteoporosis	Neînregistrat
Rib fusion	Neînregistrat
Stiff hinge joints	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Diarrhea	Foarte des (80–99%)
Feeding difficulties	Foarte des (80–99%)
Anteriorly placed anus	Des (30–79%)
Malabsorption	Des (30–79%)
Absent anus	Uneori (5–29%)
Functional abnormality of the gastrointestinal tract	Uneori (5–29%)
Nasogastric tube feeding	Uneori (5–29%)
Vomiting	Uneori (5–29%)
Abnormal connection between rectum and vagina	Neînregistrat
Annular pancreas	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Intellectual disability	Des (30–79%)
Chiari malformation	Uneori (5–29%)
Intellectual disability, mild	Uneori (5–29%)
Motor delay	Uneori (5–29%)
Obstructive sleep apnea	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	Uneori (5–29%)
Agenesis of corpus callosum	Neînregistrat
Epilepsy	Neînregistrat
More grooves in brain	Neînregistrat
Spina bifida occulta	Neînregistrat

Abnormality of the ear

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

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormal localisation of kidneys	Uneori (5–29%)
Abnormality of the ureter	Uneori (5–29%)
Hydronephrosis	Uneori (5–29%)
Undescended testes	Uneori (5–29%)
Urogenital fistula	Uneori (5–29%)
Vesicoureteral reflux	Uneori (5–29%)
Abnormality of the kidney	Neînregistrat
Perineal fistula	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Întotdeauna
Faltering weight in infancy	Foarte des (80–99%)
Growth delay	Foarte des (80–99%)
Growth delay as children	Foarte des (80–99%)
Prenatal growth deficiency	Foarte des (80–99%)
Small for gestational age	Des (30–79%)
Severe prenatal growth deficiency	Uneori (5–29%)
Severe short stature	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Cancer of lymphatic system	Uneori (5–29%)
Low blood neutrophil count	Uneori (5–29%)
Low number of red blood cells or hemoglobin	Uneori (5–29%)
Low T cell count	Uneori (5–29%)
Myelodysplasia	Uneori (5–29%)
Aplastic anemia	Rar (1–4%)
Blood cancer	Rar (1–4%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Redness of skin or mucous membrane	Foarte des (80–99%)
Blushed cheeks	Des (30–79%)
Abnormal cardiac septum morphology	Uneori (5–29%)
Abnormal cardiovascular system morphology	Neînregistrat
Abnormality of the heart	Neînregistrat
Anomalous splenoportal venous system	Neînregistrat
Spider veins	Neînregistrat

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Decreased circulating antibody level	Uneori (5–29%)

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Cancer of skin pigment cells	Rar (1–4%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased activity of gonads	Neînregistrat

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Abnormality of immune system physiology	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 RECQL4 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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