Požymiai

Su FGFR3 susiję požymiai

fibroblast growth factor receptor 3

Žmogaus fenotipo ontologija sieja 328 požymių su FGFR3, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of head or neck

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

Abnormality of limbs

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

Abnormality of the musculoskeletal system

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

Abnormality of the nervous system

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

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Absence of tears in the eyes	Visada
Bulging eye	Visada
Abnormality of the eye	Dažnai (30–79%)
Cross-eyed	Dažnai (30–79%)
Drooping upper eyelid	Dažnai (30–79%)
Increased tears	Dažnai (30–79%)
Inflammatory abnormality of the eye	Dažnai (30–79%)
Outward facing eye ball	Dažnai (30–79%)
Wide-set eyes	Dažnai (30–79%)
Abnormally close eyes	Kartais (5–29%)
Corneal ulceration	Kartais (5–29%)
Decreased corneal sensation	Kartais (5–29%)
Lazy eye	Kartais (5–29%)
Limbal stem cell deficiency	Kartais (5–29%)
New blood vessel formation in cornea	Kartais (5–29%)
Optic atrophy	Kartais (5–29%)
Recurrent breakdown of clear protective layer of eye	Kartais (5–29%)
Severe near sightedness	Kartais (5–29%)
Visual impairment	Kartais (5–29%)
Increased corneal thickness	Retai (1–4 %)
Open angle glaucoma	Retai (1–4 %)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Uterine leiomyoma	Dažnai (30–79%)
Abnormality of the kidney	Kartais (5–29%)
Loss of bladder control	Kartais (5–29%)
Menstrual irregularity	Kartais (5–29%)
Undescended testes	Kartais (5–29%)
Heart shaped uterus	Retai (1–4 %)
Hydronephrosis	Retai (1–4 %)
Small kidneys	Retai (1–4 %)
Vesicoureteral reflux	Retai (1–4 %)
Absent sperm in semen	Neužfiksuota
Bladder neoplasm	Neužfiksuota
Cancer starting in small tubes in kidneys	Neužfiksuota
Cervix cancer	Neužfiksuota
Teratoma	Neužfiksuota
Transitional cell carcinoma of the bladder	Neužfiksuota
Uterine leiomyosarcoma	Neužfiksuota

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Cupped ear	Visada
Hearing impairment	Visada
Small ears	Visada
Sensorineural hearing impairment	Labai dažnai (80–99%)
Abnormal antihelix morphology	Dažnai (30–79%)
Abnormally shaped ears	Dažnai (30–79%)
Conductive deafness	Dažnai (30–79%)
Functional abnormality of the middle ear	Dažnai (30–79%)
Narrow internal auditory canal	Dažnai (30–79%)
Prominent crus of helix	Dažnai (30–79%)
Recurrent middle ear infection	Dažnai (30–79%)
Low-set ears	Kartais (5–29%)
Mixed hearing impairment	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Darkened and thickened skin	Visada
Loose redundant skin	Labai dažnai (80–99%)
Excessive wrinkled skin	Dažnai (30–79%)
Abnormal hair pattern	Kartais (5–29%)
Hyperpigmented skin patches	Kartais (5–29%)
Loss of hair color	Kartais (5–29%)
Patchy loss of skin color	Kartais (5–29%)
Skin tags	Kartais (5–29%)
Atypical nail growth	Retai (1–4 %)
Beauty mark	Neužfiksuota
Numerous moles	Neužfiksuota

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Breathing difficulties	Visada
Neonatal respiratory distress	Visada
Poorly developed lungs	Visada
Absent/small lungs	Labai dažnai (80–99%)
Respiratory function loss	Labai dažnai (80–99%)
Central apnea	Dažnai (30–79%)
Low blood oxygen level	Kartais (5–29%)
Respiratory failure	Kartais (5–29%)
Stiff lung or chest wall causing decreased lung volume	Kartais (5–29%)
Hypoplasia of the epiglottis	Retai (1–4 %)
Upper airway obstruction	Neužfiksuota

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Disproportionate short-limb short stature	Visada
Severe short stature	Visada
Tall stature	Visada
Childhood onset short-limb short stature	Labai dažnai (80–99%)
Disproportionate short stature	Labai dažnai (80–99%)
Lethal short-limbed short stature	Labai dažnai (80–99%)
Short stature	Labai dažnai (80–99%)
Obesity	Kartais (5–29%)
Neonatal short-limb short stature	Neužfiksuota

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
1-minute APGAR score of 1	Visada
5-minute APGAR score of 1	Visada
Champagne cork sign	Visada
Feet or buttocks of fetus positioned near opening of uterus	Visada
High levels of amniotic fluid	Visada
Premature rupture of membranes	Visada
Choriocarcinoma	Neužfiksuota
Less than 10 fetal movements in 12 hours	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Belly sticks out	Visada
Feeding difficulties	Visada
Acid reflux	Dažnai (30–79%)
Loss of bowel control	Kartais (5–29%)
Poor swallowing	Retai (1–4 %)
Colon cancer	Neužfiksuota
Hereditary nonpolyposis colorectal carcinoma	Neužfiksuota
Stomach tumor	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Cardiac failure	Dažnai (30–79%)
Increased blood pressure in blood vessels of lungs	Dažnai (30–79%)
Abnormal cardiovascular system morphology	Kartais (5–29%)
Abnormality of the heart	Kartais (5–29%)
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
Patent ductus arteriosus	Kartais (5–29%)

Abnormal tissue mass

Požymis	Kaip dažnai pasireiškia
Abnormal tissue mass	Neužfiksuota
Embryonal neoplasm	Neužfiksuota

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Brain abscess	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Elevated circulating alpha-fetoprotein concentration	Neužfiksuota

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su FGFR3 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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