Tunnused

Geeniga FGFR2 seotud tunnused

fibroblast growth factor receptor 2

Inimese fenotüübi ontoloogia seostab geeniga FGFR2 366 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

FGFR2

Abnormality of head or neck

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

Abnormality of limbs

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

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Bulging eye	Alati
Drooping upper eyelid	Alati
Exodeviation	Alati
Increased size of eyes	Alati
Optic atrophy	Alati
Wide-set eyes	Alati
Enlarged cornea	Väga sageli (80–99%)
Night blindness since birth	Väga sageli (80–99%)
Abnormality of the eye	Sageli (30–79%)
Absence of tears in the eyes	Sageli (30–79%)
Close sighted	Sageli (30–79%)
Cross-eyed	Sageli (30–79%)
Increased tears	Sageli (30–79%)
Abnormality of vision	Mõnikord (5–29%)
Abnormally close eyes	Mõnikord (5–29%)
Anisometropia	Mõnikord (5–29%)
Cat eye	Mõnikord (5–29%)
Corneal ulceration	Mõnikord (5–29%)
Damage to outer layer of the cornea of the eye	Mõnikord (5–29%)
Decreased corneal sensation	Mõnikord (5–29%)
Lazy eye	Mõnikord (5–29%)
Limbal stem cell deficiency	Mõnikord (5–29%)
New blood vessel formation in cornea	Mõnikord (5–29%)
Recurrent breakdown of clear protective layer of eye	Mõnikord (5–29%)
Visual impairment	Mõnikord (5–29%)
Visual loss	Mõnikord (5–29%)
Increased corneal thickness	Harva (1–4%)
Open angle glaucoma	Harva (1–4%)
Outward facing eye ball	Harva (1–4%)
Corneal inflammation	Pole registreeritud
Corneal perforation	Pole registreeritud
Enlarged eyeball	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Bent long bone	Alati
Hypoplastic pubic bone	Alati
Short collarbone	Alati
Abnormal periosteum morphology	Väga sageli (80–99%)
Bell-shaped thorax	Väga sageli (80–99%)
Hypoplastic ischia	Väga sageli (80–99%)
Incomplete maturation of the pubic bone	Väga sageli (80–99%)
Limitation of joint mobility	Väga sageli (80–99%)
Osteopenia	Väga sageli (80–99%)
Cervical C5/C6 vertebrae fusion	Sageli (30–79%)
Delayed maturation of end part of long bone	Sageli (30–79%)
Pigeon chest	Sageli (30–79%)
Prominent swayback	Sageli (30–79%)
Vertebral segmentation defect	Sageli (30–79%)
Abnormal sacrum morphology	Mõnikord (5–29%)
Abnormal vertebral body morphology	Mõnikord (5–29%)
Scoliosis	Mõnikord (5–29%)
Arthritis	Harva (1–4%)
Abnormal cervical spine	Pole registreeritud
Abnormal shape of pelvic girdle bone	Pole registreeritud
Cervical C6/C7 vertebrae fusion	Pole registreeritud
Flexed joint that cannot be straightened	Pole registreeritud
Glenoid dysplasia	Pole registreeritud
Narrow chest	Pole registreeritud
Narrow pelvis bone	Pole registreeritud
Permanent flexion of the finger or toe	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Absent ear canal	Alati
Conductive deafness	Alati
Cupped ear	Alati
Ears rotated toward back of head	Alati
Hearing impairment	Alati
Abnormality of the outer ear	Väga sageli (80–99%)
Absent/small ear lobes	Väga sageli (80–99%)
Hearing abnormality	Väga sageli (80–99%)
Large ears	Väga sageli (80–99%)
Low-set ears	Väga sageli (80–99%)
Narrow ear canal	Väga sageli (80–99%)
Overfolding of the superior helices	Väga sageli (80–99%)
Abnormal antihelix morphology	Sageli (30–79%)
Abnormal semicircular canal morphology	Sageli (30–79%)
Abnormally shaped ears	Sageli (30–79%)
Chronic infections of the middle ear	Sageli (30–79%)
Narrow internal auditory canal	Sageli (30–79%)
Prominent crus of helix	Sageli (30–79%)
Small ears	Sageli (30–79%)
Middle ear infection	Mõnikord (5–29%)
Mixed hearing impairment	Mõnikord (5–29%)
Sensorineural hearing impairment	Mõnikord (5–29%)
Thickened helices	Mõnikord (5–29%)

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Chiari malformation	Alati
Global developmental delay	Alati
Too much cerebrospinal fluid in the brain	Alati
Ventriculomegaly	Alati
Aqueductal stenosis	Väga sageli (80–99%)
Absent septum pellucidum	Sageli (30–79%)
Agenesis of corpus callosum	Sageli (30–79%)
Epilepsy	Sageli (30–79%)
Intellectual disability	Sageli (30–79%)
Intellectual disability, mild	Sageli (30–79%)
Rise in pressure inside skull	Sageli (30–79%)
Small cerebellum	Sageli (30–79%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Mõnikord (5–29%)
Headache	Mõnikord (5–29%)
IQ between 34 and 49	Mõnikord (5–29%)
Migraine	Mõnikord (5–29%)
Pauses in breathing while sleeping	Mõnikord (5–29%)
Abnormal morphology of the limbic system	Pole registreeritud
Chiari type I malformation	Pole registreeritud
Enlarged brain	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Enlarged clitoris	Alati
Hypospadias	Alati
Prominent scrotal raphe	Alati
Small labia majora	Alati
Cleft of scrotum	Sageli (30–79%)
Undescended testes	Sageli (30–79%)
Abnormality of the genitourinary system	Mõnikord (5–29%)
Horseshoe kidney	Mõnikord (5–29%)
Hydronephrosis	Mõnikord (5–29%)
Vesicoureteral reflux	Mõnikord (5–29%)
Heart shaped uterus	Harva (1–4%)
Small kidneys	Harva (1–4%)
Abnormally closed or absent vagina	Pole registreeritud
Abnormally shaped kidney	Pole registreeritud
Absent kidney	Pole registreeritud
Coronal hypospadias	Pole registreeritud
Dysgerminoma	Pole registreeritud
Fused inner lips	Pole registreeritud
Scarring of kidney arteries	Pole registreeritud

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Darkened and thickened skin	Alati
Excessive hairiness	Alati
Skin tags	Alati
Small fingernail	Alati
Beauty mark	Väga sageli (80–99%)
Firm lump under the skin	Väga sageli (80–99%)
Excessive sweating	Sageli (30–79%)
Abnormal hair pattern	Mõnikord (5–29%)
Abnormality of the nail	Mõnikord (5–29%)
Patchy loss of skin color	Mõnikord (5–29%)
Poor nail formation	Mõnikord (5–29%)
Atypical nail growth	Harva (1–4%)
Hyperelastic skin	Pole registreeritud
Small nail	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Anteriorly placed anus	Alati
Feeding difficulties in infancy	Alati
Redundant umbilical skin	Alati
Abnormality of the pancreas	Väga sageli (80–99%)
Abnormal anus position	Mõnikord (5–29%)
Absent anus	Mõnikord (5–29%)
Birth defect in which part of esophagus did not develop	Mõnikord (5–29%)
Intestinal malrotation	Mõnikord (5–29%)
Umbilical hernia	Mõnikord (5–29%)
Poor swallowing	Harva (1–4%)
Pyloric stenosis	Pole registreeritud
Stomach cancer	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Tracheal cartilaginous sleeve	Alati
Breathing difficulties	Väga sageli (80–99%)
Floppy windpipe	Väga sageli (80–99%)
Softening of voice box tissue	Väga sageli (80–99%)
Obstructive lung disease	Mõnikord (5–29%)
Respiratory function loss	Mõnikord (5–29%)
Hypoplasia of the epiglottis	Harva (1–4%)
Anomalous tracheal cartilage	Pole registreeritud
Breath-holding spell	Pole registreeritud
Bronchomalacia	Pole registreeritud
Upper airway obstruction	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
High blood pressure	Alati
Visceral angiomatosis	Väga sageli (80–99%)
Abnormal cardiovascular system morphology	Mõnikord (5–29%)
Abnormality of the heart	Mõnikord (5–29%)
Enlarged liver and spleen	Mõnikord (5–29%)
Patent ductus arteriosus	Harva (1–4%)
An opening in the wall separating the top two chambers of the heart	Pole registreeritud
Hole in heart wall separating two lower heart chambers	Pole registreeritud
Overriding aorta	Pole registreeritud

Abnormality of the breast

Tunnus	Kui sageli seda täheldatakse
Wide-spaced nipples	Sageli (30–79%)
Breast cancer	Pole registreeritud

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Short stature	Mõnikord (5–29%)
Growth abnormality	Pole registreeritud

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Extramedullary hematopoiesis	Väga sageli (80–99%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
High levels of amniotic fluid	Sageli (30–79%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Acne	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Increased level of L-fucose in urine	Pole registreeritud

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga FGFR2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

Üks test. Vastused kogu eluks.

Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast

Telli oma Genome Test