Trăsături

Trăsături asociate cu FGFR3

fibroblast growth factor receptor 3

Human Phenotype Ontology asociază 328 trăsături cu FGFR3, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

FGFR3

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Absent lacrimal punctum	Întotdeauna
Absent tear duct	Întotdeauna
Big calvaria	Întotdeauna
Cloverleaf cranium shape	Întotdeauna
Cone shaped tooth	Întotdeauna
Dental cavities	Întotdeauna
Depressed nasal bridge	Întotdeauna
Frontal bossing	Întotdeauna
High palate	Întotdeauna
Little foramen magnum	Întotdeauna
Midface retrusion	Întotdeauna
Narrowing of the rear opening of the nasal cavity	Întotdeauna
Pink eye	Întotdeauna
Prominent forehead	Întotdeauna
Short neck	Întotdeauna
Unopened tear duct	Întotdeauna
Abnormal dentition	Foarte des (80–99%)
Abnormality of the skull	Foarte des (80–99%)
Aplasia/Hypoplasia of the mandible	Foarte des (80–99%)
Broad forehead	Foarte des (80–99%)
Broad head shape	Foarte des (80–99%)
Coronal craniosynostosis	Foarte des (80–99%)
Decreased size of tooth	Foarte des (80–99%)
Deformity of the skull	Foarte des (80–99%)
Facial asymmetry	Foarte des (80–99%)
Failure of development of between one and six teeth	Foarte des (80–99%)
Flat face	Foarte des (80–99%)
High forehead	Foarte des (80–99%)
Abnormal lacrimal duct morphology	Des (30–79%)
Abnormal lacrimal gland morphology	Des (30–79%)
Abnormal tooth enamel	Des (30–79%)
Abnormality of the midface	Des (30–79%)
Abnormality of the salivary glands	Des (30–79%)
Abnormally small head	Des (30–79%)
Asymmetry of the posterior head	Des (30–79%)
Beaked nose	Des (30–79%)
Blockage of the rear opening of the nasal cavity	Des (30–79%)
Decreased salivary flow	Des (30–79%)
Decreased size of maxilla	Des (30–79%)
Delayed cranial suture closure	Des (30–79%)
Downward slanting of the opening between the eyelids	Des (30–79%)
Dry eye syndrome	Des (30–79%)
Eyelid spasm	Des (30–79%)
Flattened bony protrusion above eyes	Des (30–79%)
High, narrow palate	Des (30–79%)
Increased nuchal translucency	Des (30–79%)
Low frontal hairline	Des (30–79%)
Narrow palate	Des (30–79%)
Narrowing of the tear duct	Des (30–79%)
Nasal tip, upturned	Des (30–79%)
Open bite	Des (30–79%)
Parietal bossing	Des (30–79%)
Prominent nasal bridge	Des (30–79%)
Short nasal bridge	Des (30–79%)
Tall shaped head	Des (30–79%)
Wider-than-typical soft spot of skull	Des (30–79%)
Zygomatic flattening	Des (30–79%)
Abnormal facial shape	Uneori (5–29%)
Abnormality of the palate	Uneori (5–29%)
Absent tear gland	Uneori (5–29%)
Bifid uvula	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Encephalocele	Uneori (5–29%)
Eye folds	Uneori (5–29%)
Holes in parietal bones	Uneori (5–29%)
Hypoplasia of the lacrimal punctum	Uneori (5–29%)
Keratoconjunctivitis	Uneori (5–29%)
Thin dental enamel	Uneori (5–29%)
Cleft of the mouth	Rar (1–4%)
Little lower jaw	Rar (1–4%)
Lost smell	Rar (1–4%)
Bad bite	Neînregistrat
Small face	Neînregistrat
Temporal bossing	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Bowed legs	Întotdeauna
Bowed thighbone	Întotdeauna
Bowing of outer large bone of the forearm	Întotdeauna
Curving of inner forearm bone	Întotdeauna
Disproportionately short upper portion of limb	Întotdeauna
Duplication of thumb phalanx	Întotdeauna
Flared wide portion of long bone	Întotdeauna
Long slender fingers	Întotdeauna
Short thighbone	Întotdeauna
Smaller or shorter than typical limbs	Întotdeauna
Trident hand	Întotdeauna
Abnormality of lower limb joint	Foarte des (80–99%)
Abnormality of the wide portion of a long bone	Foarte des (80–99%)
Bowing of the long bones	Foarte des (80–99%)
Curvature of little finger	Foarte des (80–99%)
Finger syndactyly	Foarte des (80–99%)
Limb undergrowth	Foarte des (80–99%)
Metaphyseal chondrodysplasia	Foarte des (80–99%)
Permanent flexion of the finger	Foarte des (80–99%)
Short fingers or toes	Foarte des (80–99%)
Short toe	Foarte des (80–99%)
Split hand	Foarte des (80–99%)
Abnormal shape of long bones of hand	Des (30–79%)
Abnormality of fingers or toes	Des (30–79%)
Abnormality of the elbow	Des (30–79%)
Abnormality of the thighbone	Des (30–79%)
Bilateral single transverse palmar creases	Des (30–79%)
Bowed calf bone	Des (30–79%)
Bowed shankbone	Des (30–79%)
Broad big toe	Des (30–79%)
Broad thumb	Des (30–79%)
Cone-shaped end part of finger bones	Des (30–79%)
Fused ankle bones	Des (30–79%)
Fused wrist bones	Des (30–79%)
Hip joint hypermobility	Des (30–79%)
Knee joint over-flexibility	Des (30–79%)
Limited elbow extension	Des (30–79%)
Outward bow-leggedness	Des (30–79%)
Short foot	Des (30–79%)
Short middle bone of finger	Des (30–79%)
Short neck of thighbone	Des (30–79%)
Short palm	Des (30–79%)
Short proximal phalanx of finger	Des (30–79%)
Thimble-shaped middle bones of hand	Des (30–79%)
Abnormality of the thumb	Uneori (5–29%)
Absent thumb	Uneori (5–29%)
Broad toe	Uneori (5–29%)
Bunion	Uneori (5–29%)
Curvature of digit	Uneori (5–29%)
Disproportionately short middle portion of limb	Uneori (5–29%)
Duplication of the outermost bone of big toe	Uneori (5–29%)
Excessive wrinkled skin of palms and soles	Uneori (5–29%)
Finger-like thumb	Uneori (5–29%)
Flat acetabular roof	Uneori (5–29%)
Fused forearm bones	Uneori (5–29%)
Fused long bones of hand	Uneori (5–29%)
Fused toes	Uneori (5–29%)
Proximal radio-ulnar synostosis	Uneori (5–29%)
Short thumb	Uneori (5–29%)
Underdeveloped outer large forearm bone	Uneori (5–29%)
Webbed fingers or toes	Uneori (5–29%)
Absent/small extremities	Neînregistrat
Broad wide portion of thigh bone	Neînregistrat
Camptodactyly of toe	Neînregistrat
Capitate-hamate fusion	Neînregistrat
Irregular wide portion of a long bone	Neînregistrat
Radial deviation of finger	Neînregistrat
Short middle bones (feet)	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Flattened vertebrae	Întotdeauna
Hypoplastic pelvis	Întotdeauna
Narrow chest	Întotdeauna
Narrow greater sciatic notch	Întotdeauna
Narrow vertebral interpedicular distance	Întotdeauna
Scoliosis	Întotdeauna
Severe platyspondyly	Întotdeauna
Short long bone	Întotdeauna
Short ribs	Întotdeauna
Small chest	Întotdeauna
Widened interpedicular distance	Întotdeauna
Abnormal sacroiliac joint morphology	Foarte des (80–99%)
Abnormal skeletal development	Foarte des (80–99%)
Abnormal vertebral body morphology	Foarte des (80–99%)
Double-Jointed	Foarte des (80–99%)
Hunched back	Foarte des (80–99%)
Low muscle tone	Foarte des (80–99%)
Permanent flexion of the finger or toe	Foarte des (80–99%)
Short greater sciatic notch	Foarte des (80–99%)
Shorter than typical length between neck and abdomen	Foarte des (80–99%)
Small wings of the pelvic girdle	Foarte des (80–99%)
Thoracolumbar kyphosis	Foarte des (80–99%)
Abnormal collarbone	Des (30–79%)
Abnormal shape of pelvic girdle bone	Des (30–79%)
Cervical spinal canal stenosis	Des (30–79%)
Cone-shaped end part of bone	Des (30–79%)
Decreased muscle tone in infant	Des (30–79%)
Excessive inward curvature of lower spine	Des (30–79%)
Formation of new noncancerous bone on top of existing bone	Des (30–79%)
Narrow spinal canal	Des (30–79%)
Prominent swayback	Des (30–79%)
Abnormal iliac wing morphology	Uneori (5–29%)
Abnormal sacrum morphology	Uneori (5–29%)
Degenerative joint disease	Uneori (5–29%)
Joint stiffness	Uneori (5–29%)
Limitation of joint mobility	Uneori (5–29%)
Arthritis	Rar (1–4%)
Craniocervical junction constriction	Neînregistrat
Funnel chest	Neînregistrat
Hunched back in infancy	Neînregistrat
Hypermobility of all joints	Neînregistrat
Increased vertebral height	Neînregistrat
Limited hip extension	Neînregistrat
Osteochondroma	Neînregistrat
Small abnormally formed shoulder blade	Neînregistrat
Spinal stenosis with reduced interpedicular distance	Neînregistrat
Wide-cupped costochondral junctions	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Global developmental delay	Întotdeauna
Intellectual disability	Întotdeauna
Too much cerebrospinal fluid in the brain	Întotdeauna
Underdevelopment of part of brain called corpus callosum	Întotdeauna
Brain degeneration	Foarte des (80–99%)
Cognitive impairment	Foarte des (80–99%)
Enlarged cerebellum	Foarte des (80–99%)
Generalized-onset seizure	Foarte des (80–99%)
Intellectual disability, severe	Foarte des (80–99%)
IQ less than 20	Foarte des (80–99%)
Severe global developmental delay	Foarte des (80–99%)
Absent/small cerebellum	Des (30–79%)
Central sleep apnea	Des (30–79%)
Chiari malformation	Des (30–79%)
Epilepsy	Des (30–79%)
Focal impaired awareness seizure	Des (30–79%)
Obstructive sleep apnea	Des (30–79%)
Rise in pressure inside skull	Des (30–79%)
Temporal lobe dysplasia	Des (30–79%)
Ventriculomegaly	Des (30–79%)
Abnormality of neuronal migration	Uneori (5–29%)
Attention deficit	Uneori (5–29%)
Enlarged brain	Uneori (5–29%)
Gray matter heterotopia	Uneori (5–29%)
Headache	Uneori (5–29%)
Holoprosencephaly	Uneori (5–29%)
IQ between 34 and 49	Uneori (5–29%)
Migraine	Uneori (5–29%)
Pauses in breathing while sleeping	Uneori (5–29%)
Small cerebellum	Uneori (5–29%)
Brain stem compression	Neînregistrat
Motor delay	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Absence of tears in the eyes	Întotdeauna
Bulging eye	Întotdeauna
Abnormality of the eye	Des (30–79%)
Cross-eyed	Des (30–79%)
Drooping upper eyelid	Des (30–79%)
Increased tears	Des (30–79%)
Inflammatory abnormality of the eye	Des (30–79%)
Outward facing eye ball	Des (30–79%)
Wide-set eyes	Des (30–79%)
Abnormally close eyes	Uneori (5–29%)
Corneal ulceration	Uneori (5–29%)
Decreased corneal sensation	Uneori (5–29%)
Lazy eye	Uneori (5–29%)
Limbal stem cell deficiency	Uneori (5–29%)
New blood vessel formation in cornea	Uneori (5–29%)
Optic atrophy	Uneori (5–29%)
Recurrent breakdown of clear protective layer of eye	Uneori (5–29%)
Severe near sightedness	Uneori (5–29%)
Visual impairment	Uneori (5–29%)
Increased corneal thickness	Rar (1–4%)
Open angle glaucoma	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Uterine leiomyoma	Des (30–79%)
Abnormality of the kidney	Uneori (5–29%)
Loss of bladder control	Uneori (5–29%)
Menstrual irregularity	Uneori (5–29%)
Undescended testes	Uneori (5–29%)
Heart shaped uterus	Rar (1–4%)
Hydronephrosis	Rar (1–4%)
Small kidneys	Rar (1–4%)
Vesicoureteral reflux	Rar (1–4%)
Absent sperm in semen	Neînregistrat
Bladder neoplasm	Neînregistrat
Cancer starting in small tubes in kidneys	Neînregistrat
Cervix cancer	Neînregistrat
Teratoma	Neînregistrat
Transitional cell carcinoma of the bladder	Neînregistrat
Uterine leiomyosarcoma	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Cupped ear	Întotdeauna
Hearing impairment	Întotdeauna
Small ears	Întotdeauna
Sensorineural hearing impairment	Foarte des (80–99%)
Abnormal antihelix morphology	Des (30–79%)
Abnormally shaped ears	Des (30–79%)
Conductive deafness	Des (30–79%)
Functional abnormality of the middle ear	Des (30–79%)
Narrow internal auditory canal	Des (30–79%)
Prominent crus of helix	Des (30–79%)
Recurrent middle ear infection	Des (30–79%)
Low-set ears	Uneori (5–29%)
Mixed hearing impairment	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Darkened and thickened skin	Întotdeauna
Loose redundant skin	Foarte des (80–99%)
Excessive wrinkled skin	Des (30–79%)
Abnormal hair pattern	Uneori (5–29%)
Hyperpigmented skin patches	Uneori (5–29%)
Loss of hair color	Uneori (5–29%)
Patchy loss of skin color	Uneori (5–29%)
Skin tags	Uneori (5–29%)
Atypical nail growth	Rar (1–4%)
Beauty mark	Neînregistrat
Numerous moles	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Breathing difficulties	Întotdeauna
Neonatal respiratory distress	Întotdeauna
Poorly developed lungs	Întotdeauna
Absent/small lungs	Foarte des (80–99%)
Respiratory function loss	Foarte des (80–99%)
Central apnea	Des (30–79%)
Low blood oxygen level	Uneori (5–29%)
Respiratory failure	Uneori (5–29%)
Stiff lung or chest wall causing decreased lung volume	Uneori (5–29%)
Hypoplasia of the epiglottis	Rar (1–4%)
Upper airway obstruction	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Disproportionate short-limb short stature	Întotdeauna
Severe short stature	Întotdeauna
Tall stature	Întotdeauna
Childhood onset short-limb short stature	Foarte des (80–99%)
Disproportionate short stature	Foarte des (80–99%)
Lethal short-limbed short stature	Foarte des (80–99%)
Short stature	Foarte des (80–99%)
Obesity	Uneori (5–29%)
Neonatal short-limb short stature	Neînregistrat

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
1-minute APGAR score of 1	Întotdeauna
5-minute APGAR score of 1	Întotdeauna
Champagne cork sign	Întotdeauna
Feet or buttocks of fetus positioned near opening of uterus	Întotdeauna
High levels of amniotic fluid	Întotdeauna
Premature rupture of membranes	Întotdeauna
Choriocarcinoma	Neînregistrat
Less than 10 fetal movements in 12 hours	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Belly sticks out	Întotdeauna
Feeding difficulties	Întotdeauna
Acid reflux	Des (30–79%)
Loss of bowel control	Uneori (5–29%)
Poor swallowing	Rar (1–4%)
Colon cancer	Neînregistrat
Hereditary nonpolyposis colorectal carcinoma	Neînregistrat
Stomach tumor	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Cardiac failure	Des (30–79%)
Increased blood pressure in blood vessels of lungs	Des (30–79%)
Abnormal cardiovascular system morphology	Uneori (5–29%)
Abnormality of the heart	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Abnormal tissue mass	Neînregistrat
Embryonal neoplasm	Neînregistrat

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Brain abscess	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Elevated circulating alpha-fetoprotein concentration	Neînregistrat

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 FGFR3 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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