Trăsături

Trăsături asociate cu FGFR2

fibroblast growth factor receptor 2

Human Phenotype Ontology asociază 366 trăsături cu FGFR2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

FGFR2

Abnormality of head or neck

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

Abnormality of limbs

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

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Bulging eye	Întotdeauna
Drooping upper eyelid	Întotdeauna
Exodeviation	Întotdeauna
Increased size of eyes	Întotdeauna
Optic atrophy	Întotdeauna
Wide-set eyes	Întotdeauna
Enlarged cornea	Foarte des (80–99%)
Night blindness since birth	Foarte des (80–99%)
Abnormality of the eye	Des (30–79%)
Absence of tears in the eyes	Des (30–79%)
Close sighted	Des (30–79%)
Cross-eyed	Des (30–79%)
Increased tears	Des (30–79%)
Abnormality of vision	Uneori (5–29%)
Abnormally close eyes	Uneori (5–29%)
Anisometropia	Uneori (5–29%)
Cat eye	Uneori (5–29%)
Corneal ulceration	Uneori (5–29%)
Damage to outer layer of the cornea of the eye	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%)
Recurrent breakdown of clear protective layer of eye	Uneori (5–29%)
Visual impairment	Uneori (5–29%)
Visual loss	Uneori (5–29%)
Increased corneal thickness	Rar (1–4%)
Open angle glaucoma	Rar (1–4%)
Outward facing eye ball	Rar (1–4%)
Corneal inflammation	Neînregistrat
Corneal perforation	Neînregistrat
Enlarged eyeball	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Bent long bone	Întotdeauna
Hypoplastic pubic bone	Întotdeauna
Short collarbone	Întotdeauna
Abnormal periosteum morphology	Foarte des (80–99%)
Bell-shaped thorax	Foarte des (80–99%)
Hypoplastic ischia	Foarte des (80–99%)
Incomplete maturation of the pubic bone	Foarte des (80–99%)
Limitation of joint mobility	Foarte des (80–99%)
Osteopenia	Foarte des (80–99%)
Cervical C5/C6 vertebrae fusion	Des (30–79%)
Delayed maturation of end part of long bone	Des (30–79%)
Pigeon chest	Des (30–79%)
Prominent swayback	Des (30–79%)
Vertebral segmentation defect	Des (30–79%)
Abnormal sacrum morphology	Uneori (5–29%)
Abnormal vertebral body morphology	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Arthritis	Rar (1–4%)
Abnormal cervical spine	Neînregistrat
Abnormal shape of pelvic girdle bone	Neînregistrat
Cervical C6/C7 vertebrae fusion	Neînregistrat
Flexed joint that cannot be straightened	Neînregistrat
Glenoid dysplasia	Neînregistrat
Narrow chest	Neînregistrat
Narrow pelvis bone	Neînregistrat
Permanent flexion of the finger or toe	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Absent ear canal	Întotdeauna
Conductive deafness	Întotdeauna
Cupped ear	Întotdeauna
Ears rotated toward back of head	Întotdeauna
Hearing impairment	Întotdeauna
Abnormality of the outer ear	Foarte des (80–99%)
Absent/small ear lobes	Foarte des (80–99%)
Hearing abnormality	Foarte des (80–99%)
Large ears	Foarte des (80–99%)
Low-set ears	Foarte des (80–99%)
Narrow ear canal	Foarte des (80–99%)
Overfolding of the superior helices	Foarte des (80–99%)
Abnormal antihelix morphology	Des (30–79%)
Abnormal semicircular canal morphology	Des (30–79%)
Abnormally shaped ears	Des (30–79%)
Chronic infections of the middle ear	Des (30–79%)
Narrow internal auditory canal	Des (30–79%)
Prominent crus of helix	Des (30–79%)
Small ears	Des (30–79%)
Middle ear infection	Uneori (5–29%)
Mixed hearing impairment	Uneori (5–29%)
Sensorineural hearing impairment	Uneori (5–29%)
Thickened helices	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Chiari malformation	Întotdeauna
Global developmental delay	Întotdeauna
Too much cerebrospinal fluid in the brain	Întotdeauna
Ventriculomegaly	Întotdeauna
Aqueductal stenosis	Foarte des (80–99%)
Absent septum pellucidum	Des (30–79%)
Agenesis of corpus callosum	Des (30–79%)
Epilepsy	Des (30–79%)
Intellectual disability	Des (30–79%)
Intellectual disability, mild	Des (30–79%)
Rise in pressure inside skull	Des (30–79%)
Small cerebellum	Des (30–79%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Uneori (5–29%)
Headache	Uneori (5–29%)
IQ between 34 and 49	Uneori (5–29%)
Migraine	Uneori (5–29%)
Pauses in breathing while sleeping	Uneori (5–29%)
Abnormal morphology of the limbic system	Neînregistrat
Chiari type I malformation	Neînregistrat
Enlarged brain	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Enlarged clitoris	Întotdeauna
Hypospadias	Întotdeauna
Prominent scrotal raphe	Întotdeauna
Small labia majora	Întotdeauna
Cleft of scrotum	Des (30–79%)
Undescended testes	Des (30–79%)
Abnormality of the genitourinary system	Uneori (5–29%)
Horseshoe kidney	Uneori (5–29%)
Hydronephrosis	Uneori (5–29%)
Vesicoureteral reflux	Uneori (5–29%)
Heart shaped uterus	Rar (1–4%)
Small kidneys	Rar (1–4%)
Abnormally closed or absent vagina	Neînregistrat
Abnormally shaped kidney	Neînregistrat
Absent kidney	Neînregistrat
Coronal hypospadias	Neînregistrat
Dysgerminoma	Neînregistrat
Fused inner lips	Neînregistrat
Scarring of kidney arteries	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Darkened and thickened skin	Întotdeauna
Excessive hairiness	Întotdeauna
Skin tags	Întotdeauna
Small fingernail	Întotdeauna
Beauty mark	Foarte des (80–99%)
Firm lump under the skin	Foarte des (80–99%)
Excessive sweating	Des (30–79%)
Abnormal hair pattern	Uneori (5–29%)
Abnormality of the nail	Uneori (5–29%)
Patchy loss of skin color	Uneori (5–29%)
Poor nail formation	Uneori (5–29%)
Atypical nail growth	Rar (1–4%)
Hyperelastic skin	Neînregistrat
Small nail	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Anteriorly placed anus	Întotdeauna
Feeding difficulties in infancy	Întotdeauna
Redundant umbilical skin	Întotdeauna
Abnormality of the pancreas	Foarte des (80–99%)
Abnormal anus position	Uneori (5–29%)
Absent anus	Uneori (5–29%)
Birth defect in which part of esophagus did not develop	Uneori (5–29%)
Intestinal malrotation	Uneori (5–29%)
Umbilical hernia	Uneori (5–29%)
Poor swallowing	Rar (1–4%)
Pyloric stenosis	Neînregistrat
Stomach cancer	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Tracheal cartilaginous sleeve	Întotdeauna
Breathing difficulties	Foarte des (80–99%)
Floppy windpipe	Foarte des (80–99%)
Softening of voice box tissue	Foarte des (80–99%)
Obstructive lung disease	Uneori (5–29%)
Respiratory function loss	Uneori (5–29%)
Hypoplasia of the epiglottis	Rar (1–4%)
Anomalous tracheal cartilage	Neînregistrat
Breath-holding spell	Neînregistrat
Bronchomalacia	Neînregistrat
Upper airway obstruction	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
High blood pressure	Întotdeauna
Visceral angiomatosis	Foarte des (80–99%)
Abnormal cardiovascular system morphology	Uneori (5–29%)
Abnormality of the heart	Uneori (5–29%)
Enlarged liver and spleen	Uneori (5–29%)
Patent ductus arteriosus	Rar (1–4%)
An opening in the wall separating the top two chambers of the heart	Neînregistrat
Hole in heart wall separating two lower heart chambers	Neînregistrat
Overriding aorta	Neînregistrat

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Wide-spaced nipples	Des (30–79%)
Breast cancer	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Uneori (5–29%)
Growth abnormality	Neînregistrat

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Extramedullary hematopoiesis	Foarte des (80–99%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
High levels of amniotic fluid	Des (30–79%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Acne	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Increased level of L-fucose in urine	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 FGFR2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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