Požymiai

Su FGFR2 susiję požymiai

fibroblast growth factor receptor 2

Žmogaus fenotipo ontologija sieja 366 požymių su FGFR2, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

FGFR2

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Beaked nose	Visada
Bifid uvula	Visada
Born with teeth	Visada
Cloverleaf cranium shape	Visada
Coronal craniosynostosis	Visada
Crease in skin under the eye	Visada
Deformity of the skull	Visada
Depressed nasal bridge	Visada
Deviated nasal septum	Visada
Downward slanting of the opening between the eyelids	Visada
Flat back of skull	Visada
Flattened bony protrusion above eyes	Visada
Frontal bossing	Visada
Furrows in thickened skin on top of scalp	Visada
Gum enlargement	Visada
High palate	Visada
High, prominent forehead	Visada
Midface retrusion	Visada
Narrow mouth	Visada
Narrow palate	Visada
Narrowing of the rear opening of the nasal cavity	Visada
Nasal tip, upturned	Visada
Pit in front of the ear	Visada
Preauricular skin groove	Visada
Prominent forehead	Visada
Prominent nasal bridge	Visada
Redundant neck skin	Visada
Soft skullcap	Visada
Wide fontanelles	Visada
Abnormal dentition	Labai dažnai (80–99%)
Abnormal facial shape	Labai dažnai (80–99%)
Abnormality of the face	Labai dažnai (80–99%)
Abnormality of the skull	Labai dažnai (80–99%)
Acrobrachycephaly	Labai dažnai (80–99%)
Bad bite	Labai dažnai (80–99%)
Bicoronal synostosis	Labai dažnai (80–99%)
Big calvaria	Labai dažnai (80–99%)
Blockage of the rear opening of the nasal cavity	Labai dažnai (80–99%)
Broad forehead	Labai dažnai (80–99%)
Broad head shape	Labai dažnai (80–99%)
Cheekbone underdevelopment	Labai dažnai (80–99%)
Decreased number of teeth	Labai dažnai (80–99%)
Decreased size of maxilla	Labai dažnai (80–99%)
Dental crowding	Labai dažnai (80–99%)
Depression of frontal cranial suture	Labai dažnai (80–99%)
Facial asymmetry	Labai dažnai (80–99%)
Flat face	Labai dažnai (80–99%)
High forehead	Labai dažnai (80–99%)
Little lower jaw	Labai dažnai (80–99%)
Long, narrow head	Labai dažnai (80–99%)
Multiple suture craniosynostosis	Labai dažnai (80–99%)
Short nose	Labai dažnai (80–99%)
Tall shaped head	Labai dažnai (80–99%)
Zygomatic flattening	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 palate	Dažnai (30–79%)
Abnormality of the salivary glands	Dažnai (30–79%)
Absent lacrimal punctum	Dažnai (30–79%)
Asymmetry of the posterior head	Dažnai (30–79%)
Big lower jaw	Dažnai (30–79%)
Decreased depth of eye sockets	Dažnai (30–79%)
Decreased salivary flow	Dažnai (30–79%)
Decreased size of tooth	Dažnai (30–79%)
Delayed cranial suture closure	Dažnai (30–79%)
Delayed eruption of teeth	Dažnai (30–79%)
Dental cavities	Dažnai (30–79%)
Dry eye syndrome	Dažnai (30–79%)
Early closure of midline skull joint	Dažnai (30–79%)
Eyelid spasm	Dažnai (30–79%)
Failure of development of between one and six teeth	Dažnai (30–79%)
Lambdoidal craniosynostosis	Dažnai (30–79%)
Low frontal hairline	Dažnai (30–79%)
Narrowing of the tear duct	Dažnai (30–79%)
Open bite	Dažnai (30–79%)
Pink eye	Dažnai (30–79%)
Thin red part of the upper lip	Dažnai (30–79%)
Absent tear duct	Kartais (5–29%)
Absent tear gland	Kartais (5–29%)
Cleft palate	Kartais (5–29%)
Cone shaped front tooth	Kartais (5–29%)
Corners of eye widely separated	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%)
Triangular head shape	Kartais (5–29%)
Upward slanting of the opening between the eyelids	Kartais (5–29%)
Cleft of the mouth	Retai (1–4 %)
Lost smell	Retai (1–4 %)
Abnormal nasolacrimal system morphology	Neužfiksuota
Absence of Stensen duct	Neužfiksuota
Aplasia of the parotid gland	Neužfiksuota
Blocked tear duct	Neužfiksuota
Cleft of chin	Neužfiksuota
Craniofacial dysostosis	Neužfiksuota
Dacryocystitis	Neužfiksuota
Delayed eruption of baby teeth	Neužfiksuota
Flat forehead	Neužfiksuota
Fullness around the eyes	Neužfiksuota
Long nose	Neužfiksuota
Long philtrum	Neužfiksuota
Narrow nose	Neužfiksuota
Oxycephaly	Neužfiksuota
Posterior fossa cyst	Neužfiksuota
Skull asymmetry	Neužfiksuota
Underdeveloped tear duct	Neužfiksuota
Underdeveloped tear gland	Neužfiksuota
Wider-than-typical soft spot of skull	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Broad big toe	Visada
Excessive wrinkled skin of palms and soles	Visada
Finger syndactyly	Visada
Overlapping toe	Visada
Webbed fingers	Visada
Webbed skin of toes	Visada
Abnormal thumb placement	Labai dažnai (80–99%)
Absent/small thumb	Labai dažnai (80–99%)
Broad bone of big toe	Labai dažnai (80–99%)
Broad thumb	Labai dažnai (80–99%)
Curvature of little finger	Labai dažnai (80–99%)
Fused toes	Labai dažnai (80–99%)
Hallux varus	Labai dažnai (80–99%)
Palmoplantar cutis gyrata	Labai dažnai (80–99%)
Short big toe	Labai dažnai (80–99%)
Short fingers or toes	Labai dažnai (80–99%)
Short long bone of foot	Labai dažnai (80–99%)
Steep acetabular roof	Labai dažnai (80–99%)
Thickening of palms and soles	Labai dažnai (80–99%)
Wide 1st long bone of foot	Labai dažnai (80–99%)
Wide long bone of foot	Labai dažnai (80–99%)
Abnormality of fingers or toes	Dažnai (30–79%)
Bilateral single transverse palmar creases	Dažnai (30–79%)
Broad innermost bone of the big toe	Dažnai (30–79%)
Broad outermost bone of big toe	Dažnai (30–79%)
Cutaneous syndactyly	Dažnai (30–79%)
Limited elbow movement	Dažnai (30–79%)
Partial duplication of the thumb bones	Dažnai (30–79%)
Rhizomelic arm shortening	Dažnai (30–79%)
Short 1st long bone of foot	Dažnai (30–79%)
Short foot	Dažnai (30–79%)
Short palm	Dažnai (30–79%)
Short thumb	Dažnai (30–79%)
Small hand	Dažnai (30–79%)
Webbed 2nd and 3rd toes	Dažnai (30–79%)
Webbed fingers or toes	Dažnai (30–79%)
3-4 toe cutaneous syndactyly	Kartais (5–29%)
Abnormality of the calf bone	Kartais (5–29%)
Abnormality of the lower limb	Kartais (5–29%)
Abnormality of the thumb	Kartais (5–29%)
Absent thumb	Kartais (5–29%)
Bowed legs	Kartais (5–29%)
Broad toe	Kartais (5–29%)
Bunion	Kartais (5–29%)
Calcaneonavicular fusion	Kartais (5–29%)
Curvature of digit	Kartais (5–29%)
Duplication of the outermost bone of big toe	Kartais (5–29%)
Duplication of thumb phalanx	Kartais (5–29%)
Extra little finger	Kartais (5–29%)
Extra thumb	Kartais (5–29%)
Finger-like thumb	Kartais (5–29%)
Fused finger bones	Kartais (5–29%)
Fused forearm bones	Kartais (5–29%)
Preaxial foot polydactyly	Kartais (5–29%)
Proximal radio-ulnar synostosis	Kartais (5–29%)
Smaller or shorter than typical limbs	Kartais (5–29%)
Split foot	Kartais (5–29%)
Underdeveloped outer large forearm bone	Kartais (5–29%)
Absent 1st long bone of foot	Neužfiksuota
Absent innermost thumb bone	Neužfiksuota
Bilateral triphalangeal thumbs	Neužfiksuota
Bowed thighbone	Neužfiksuota
Broad distal hallux	Neužfiksuota
Broad outermost bone of the thumb	Neužfiksuota
Curving of inner forearm bone	Neužfiksuota
Elbow ankylosis	Neužfiksuota
Fusion of upper and lower arm bones	Neužfiksuota
Fusion of wrist bones	Neužfiksuota
Inward turned middle finger	Neužfiksuota
Limited elbow extension	Neužfiksuota
Long slender fingers	Neužfiksuota
Missing outer large bone of forearm	Neužfiksuota
Notched outermost bone of the index finger	Neužfiksuota
Notched outermost bone of the middle finger	Neužfiksuota
Preaxial polydactyly	Neužfiksuota
Rocker bottom foot	Neužfiksuota
Short middle bones (feet)	Neužfiksuota
Shortening of all middle phalanges of the fingers	Neužfiksuota
Small thenar eminence	Neužfiksuota
Underdeveloped inner large forearm bone	Neužfiksuota
Webbed 2nd-3rd fingers	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Bulging eye	Visada
Drooping upper eyelid	Visada
Exodeviation	Visada
Increased size of eyes	Visada
Optic atrophy	Visada
Wide-set eyes	Visada
Enlarged cornea	Labai dažnai (80–99%)
Night blindness since birth	Labai dažnai (80–99%)
Abnormality of the eye	Dažnai (30–79%)
Absence of tears in the eyes	Dažnai (30–79%)
Close sighted	Dažnai (30–79%)
Cross-eyed	Dažnai (30–79%)
Increased tears	Dažnai (30–79%)
Abnormality of vision	Kartais (5–29%)
Abnormally close eyes	Kartais (5–29%)
Anisometropia	Kartais (5–29%)
Cat eye	Kartais (5–29%)
Corneal ulceration	Kartais (5–29%)
Damage to outer layer of the cornea of the eye	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%)
Recurrent breakdown of clear protective layer of eye	Kartais (5–29%)
Visual impairment	Kartais (5–29%)
Visual loss	Kartais (5–29%)
Increased corneal thickness	Retai (1–4 %)
Open angle glaucoma	Retai (1–4 %)
Outward facing eye ball	Retai (1–4 %)
Corneal inflammation	Neužfiksuota
Corneal perforation	Neužfiksuota
Enlarged eyeball	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Bent long bone	Visada
Hypoplastic pubic bone	Visada
Short collarbone	Visada
Abnormal periosteum morphology	Labai dažnai (80–99%)
Bell-shaped thorax	Labai dažnai (80–99%)
Hypoplastic ischia	Labai dažnai (80–99%)
Incomplete maturation of the pubic bone	Labai dažnai (80–99%)
Limitation of joint mobility	Labai dažnai (80–99%)
Osteopenia	Labai dažnai (80–99%)
Cervical C5/C6 vertebrae fusion	Dažnai (30–79%)
Delayed maturation of end part of long bone	Dažnai (30–79%)
Pigeon chest	Dažnai (30–79%)
Prominent swayback	Dažnai (30–79%)
Vertebral segmentation defect	Dažnai (30–79%)
Abnormal sacrum morphology	Kartais (5–29%)
Abnormal vertebral body morphology	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
Arthritis	Retai (1–4 %)
Abnormal cervical spine	Neužfiksuota
Abnormal shape of pelvic girdle bone	Neužfiksuota
Cervical C6/C7 vertebrae fusion	Neužfiksuota
Flexed joint that cannot be straightened	Neužfiksuota
Glenoid dysplasia	Neužfiksuota
Narrow chest	Neužfiksuota
Narrow pelvis bone	Neužfiksuota
Permanent flexion of the finger or toe	Neužfiksuota

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Absent ear canal	Visada
Conductive deafness	Visada
Cupped ear	Visada
Ears rotated toward back of head	Visada
Hearing impairment	Visada
Abnormality of the outer ear	Labai dažnai (80–99%)
Absent/small ear lobes	Labai dažnai (80–99%)
Hearing abnormality	Labai dažnai (80–99%)
Large ears	Labai dažnai (80–99%)
Low-set ears	Labai dažnai (80–99%)
Narrow ear canal	Labai dažnai (80–99%)
Overfolding of the superior helices	Labai dažnai (80–99%)
Abnormal antihelix morphology	Dažnai (30–79%)
Abnormal semicircular canal morphology	Dažnai (30–79%)
Abnormally shaped ears	Dažnai (30–79%)
Chronic infections of the middle ear	Dažnai (30–79%)
Narrow internal auditory canal	Dažnai (30–79%)
Prominent crus of helix	Dažnai (30–79%)
Small ears	Dažnai (30–79%)
Middle ear infection	Kartais (5–29%)
Mixed hearing impairment	Kartais (5–29%)
Sensorineural hearing impairment	Kartais (5–29%)
Thickened helices	Kartais (5–29%)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Chiari malformation	Visada
Global developmental delay	Visada
Too much cerebrospinal fluid in the brain	Visada
Ventriculomegaly	Visada
Aqueductal stenosis	Labai dažnai (80–99%)
Absent septum pellucidum	Dažnai (30–79%)
Agenesis of corpus callosum	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Intellectual disability	Dažnai (30–79%)
Intellectual disability, mild	Dažnai (30–79%)
Rise in pressure inside skull	Dažnai (30–79%)
Small cerebellum	Dažnai (30–79%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Kartais (5–29%)
Headache	Kartais (5–29%)
IQ between 34 and 49	Kartais (5–29%)
Migraine	Kartais (5–29%)
Pauses in breathing while sleeping	Kartais (5–29%)
Abnormal morphology of the limbic system	Neužfiksuota
Chiari type I malformation	Neužfiksuota
Enlarged brain	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Enlarged clitoris	Visada
Hypospadias	Visada
Prominent scrotal raphe	Visada
Small labia majora	Visada
Cleft of scrotum	Dažnai (30–79%)
Undescended testes	Dažnai (30–79%)
Abnormality of the genitourinary system	Kartais (5–29%)
Horseshoe kidney	Kartais (5–29%)
Hydronephrosis	Kartais (5–29%)
Vesicoureteral reflux	Kartais (5–29%)
Heart shaped uterus	Retai (1–4 %)
Small kidneys	Retai (1–4 %)
Abnormally closed or absent vagina	Neužfiksuota
Abnormally shaped kidney	Neužfiksuota
Absent kidney	Neužfiksuota
Coronal hypospadias	Neužfiksuota
Dysgerminoma	Neužfiksuota
Fused inner lips	Neužfiksuota
Scarring of kidney arteries	Neužfiksuota

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Darkened and thickened skin	Visada
Excessive hairiness	Visada
Skin tags	Visada
Small fingernail	Visada
Beauty mark	Labai dažnai (80–99%)
Firm lump under the skin	Labai dažnai (80–99%)
Excessive sweating	Dažnai (30–79%)
Abnormal hair pattern	Kartais (5–29%)
Abnormality of the nail	Kartais (5–29%)
Patchy loss of skin color	Kartais (5–29%)
Poor nail formation	Kartais (5–29%)
Atypical nail growth	Retai (1–4 %)
Hyperelastic skin	Neužfiksuota
Small nail	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Anteriorly placed anus	Visada
Feeding difficulties in infancy	Visada
Redundant umbilical skin	Visada
Abnormality of the pancreas	Labai dažnai (80–99%)
Abnormal anus position	Kartais (5–29%)
Absent anus	Kartais (5–29%)
Birth defect in which part of esophagus did not develop	Kartais (5–29%)
Intestinal malrotation	Kartais (5–29%)
Umbilical hernia	Kartais (5–29%)
Poor swallowing	Retai (1–4 %)
Pyloric stenosis	Neužfiksuota
Stomach cancer	Neužfiksuota

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Tracheal cartilaginous sleeve	Visada
Breathing difficulties	Labai dažnai (80–99%)
Floppy windpipe	Labai dažnai (80–99%)
Softening of voice box tissue	Labai dažnai (80–99%)
Obstructive lung disease	Kartais (5–29%)
Respiratory function loss	Kartais (5–29%)
Hypoplasia of the epiglottis	Retai (1–4 %)
Anomalous tracheal cartilage	Neužfiksuota
Breath-holding spell	Neužfiksuota
Bronchomalacia	Neužfiksuota
Upper airway obstruction	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
High blood pressure	Visada
Visceral angiomatosis	Labai dažnai (80–99%)
Abnormal cardiovascular system morphology	Kartais (5–29%)
Abnormality of the heart	Kartais (5–29%)
Enlarged liver and spleen	Kartais (5–29%)
Patent ductus arteriosus	Retai (1–4 %)
An opening in the wall separating the top two chambers of the heart	Neužfiksuota
Hole in heart wall separating two lower heart chambers	Neužfiksuota
Overriding aorta	Neužfiksuota

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Wide-spaced nipples	Dažnai (30–79%)
Breast cancer	Neužfiksuota

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Short stature	Kartais (5–29%)
Growth abnormality	Neužfiksuota

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Extramedullary hematopoiesis	Labai dažnai (80–99%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
High levels of amniotic fluid	Dažnai (30–79%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Acne	Neužfiksuota

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Increased level of L-fucose in urine	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 FGFR2 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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