Traits

Traits linked to FGFR2

fibroblast growth factor receptor 2

The Human Phenotype Ontology links 366 traits to FGFR2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

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

Abnormality of limbs

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

Abnormality of the eye

Trait	Hvor ofte det ses
Bulging eye	Altid
Drooping upper eyelid	Altid
Exodeviation	Altid
Increased size of eyes	Altid
Optic atrophy	Altid
Wide-set eyes	Altid
Enlarged cornea	Meget ofte (80–99 %)
Night blindness since birth	Meget ofte (80–99 %)
Abnormality of the eye	Ofte (30–79 %)
Absence of tears in the eyes	Ofte (30–79 %)
Close sighted	Ofte (30–79 %)
Cross-eyed	Ofte (30–79 %)
Increased tears	Ofte (30–79 %)
Abnormality of vision	Nogle gange (5–29 %)
Abnormally close eyes	Nogle gange (5–29 %)
Anisometropia	Nogle gange (5–29 %)
Cat eye	Nogle gange (5–29 %)
Corneal ulceration	Nogle gange (5–29 %)
Damage to outer layer of the cornea of the eye	Nogle gange (5–29 %)
Decreased corneal sensation	Nogle gange (5–29 %)
Lazy eye	Nogle gange (5–29 %)
Limbal stem cell deficiency	Nogle gange (5–29 %)
New blood vessel formation in cornea	Nogle gange (5–29 %)
Recurrent breakdown of clear protective layer of eye	Nogle gange (5–29 %)
Visual impairment	Nogle gange (5–29 %)
Visual loss	Nogle gange (5–29 %)
Increased corneal thickness	Sjældent (1–4%)
Open angle glaucoma	Sjældent (1–4%)
Outward facing eye ball	Sjældent (1–4%)
Corneal inflammation	Ikke registreret
Corneal perforation	Ikke registreret
Enlarged eyeball	Ikke registreret

Abnormality of the musculoskeletal system

Trait	Hvor ofte det ses
Bent long bone	Altid
Hypoplastic pubic bone	Altid
Short collarbone	Altid
Abnormal periosteum morphology	Meget ofte (80–99 %)
Bell-shaped thorax	Meget ofte (80–99 %)
Hypoplastic ischia	Meget ofte (80–99 %)
Incomplete maturation of the pubic bone	Meget ofte (80–99 %)
Limitation of joint mobility	Meget ofte (80–99 %)
Osteopenia	Meget ofte (80–99 %)
Cervical C5/C6 vertebrae fusion	Ofte (30–79 %)
Delayed maturation of end part of long bone	Ofte (30–79 %)
Pigeon chest	Ofte (30–79 %)
Prominent swayback	Ofte (30–79 %)
Vertebral segmentation defect	Ofte (30–79 %)
Abnormal sacrum morphology	Nogle gange (5–29 %)
Abnormal vertebral body morphology	Nogle gange (5–29 %)
Scoliosis	Nogle gange (5–29 %)
Arthritis	Sjældent (1–4%)
Abnormal cervical spine	Ikke registreret
Abnormal shape of pelvic girdle bone	Ikke registreret
Cervical C6/C7 vertebrae fusion	Ikke registreret
Flexed joint that cannot be straightened	Ikke registreret
Glenoid dysplasia	Ikke registreret
Narrow chest	Ikke registreret
Narrow pelvis bone	Ikke registreret
Permanent flexion of the finger or toe	Ikke registreret

Abnormality of the ear

Trait	Hvor ofte det ses
Absent ear canal	Altid
Conductive deafness	Altid
Cupped ear	Altid
Ears rotated toward back of head	Altid
Hearing impairment	Altid
Abnormality of the outer ear	Meget ofte (80–99 %)
Absent/small ear lobes	Meget ofte (80–99 %)
Hearing abnormality	Meget ofte (80–99 %)
Large ears	Meget ofte (80–99 %)
Low-set ears	Meget ofte (80–99 %)
Narrow ear canal	Meget ofte (80–99 %)
Overfolding of the superior helices	Meget ofte (80–99 %)
Abnormal antihelix morphology	Ofte (30–79 %)
Abnormal semicircular canal morphology	Ofte (30–79 %)
Abnormally shaped ears	Ofte (30–79 %)
Chronic infections of the middle ear	Ofte (30–79 %)
Narrow internal auditory canal	Ofte (30–79 %)
Prominent crus of helix	Ofte (30–79 %)
Small ears	Ofte (30–79 %)
Middle ear infection	Nogle gange (5–29 %)
Mixed hearing impairment	Nogle gange (5–29 %)
Sensorineural hearing impairment	Nogle gange (5–29 %)
Thickened helices	Nogle gange (5–29 %)

Abnormality of the nervous system

Trait	Hvor ofte det ses
Chiari malformation	Altid
Global developmental delay	Altid
Too much cerebrospinal fluid in the brain	Altid
Ventriculomegaly	Altid
Aqueductal stenosis	Meget ofte (80–99 %)
Absent septum pellucidum	Ofte (30–79 %)
Agenesis of corpus callosum	Ofte (30–79 %)
Epilepsy	Ofte (30–79 %)
Intellectual disability	Ofte (30–79 %)
Intellectual disability, mild	Ofte (30–79 %)
Rise in pressure inside skull	Ofte (30–79 %)
Small cerebellum	Ofte (30–79 %)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Nogle gange (5–29 %)
Headache	Nogle gange (5–29 %)
IQ between 34 and 49	Nogle gange (5–29 %)
Migraine	Nogle gange (5–29 %)
Pauses in breathing while sleeping	Nogle gange (5–29 %)
Abnormal morphology of the limbic system	Ikke registreret
Chiari type I malformation	Ikke registreret
Enlarged brain	Ikke registreret

Abnormality of the genitourinary system

Trait	Hvor ofte det ses
Enlarged clitoris	Altid
Hypospadias	Altid
Prominent scrotal raphe	Altid
Small labia majora	Altid
Cleft of scrotum	Ofte (30–79 %)
Undescended testes	Ofte (30–79 %)
Abnormality of the genitourinary system	Nogle gange (5–29 %)
Horseshoe kidney	Nogle gange (5–29 %)
Hydronephrosis	Nogle gange (5–29 %)
Vesicoureteral reflux	Nogle gange (5–29 %)
Heart shaped uterus	Sjældent (1–4%)
Small kidneys	Sjældent (1–4%)
Abnormally closed or absent vagina	Ikke registreret
Abnormally shaped kidney	Ikke registreret
Absent kidney	Ikke registreret
Coronal hypospadias	Ikke registreret
Dysgerminoma	Ikke registreret
Fused inner lips	Ikke registreret
Scarring of kidney arteries	Ikke registreret

Abnormality of the integument

Trait	Hvor ofte det ses
Darkened and thickened skin	Altid
Excessive hairiness	Altid
Skin tags	Altid
Small fingernail	Altid
Beauty mark	Meget ofte (80–99 %)
Firm lump under the skin	Meget ofte (80–99 %)
Excessive sweating	Ofte (30–79 %)
Abnormal hair pattern	Nogle gange (5–29 %)
Abnormality of the nail	Nogle gange (5–29 %)
Patchy loss of skin color	Nogle gange (5–29 %)
Poor nail formation	Nogle gange (5–29 %)
Atypical nail growth	Sjældent (1–4%)
Hyperelastic skin	Ikke registreret
Small nail	Ikke registreret

Abnormality of the digestive system

Trait	Hvor ofte det ses
Anteriorly placed anus	Altid
Feeding difficulties in infancy	Altid
Redundant umbilical skin	Altid
Abnormality of the pancreas	Meget ofte (80–99 %)
Abnormal anus position	Nogle gange (5–29 %)
Absent anus	Nogle gange (5–29 %)
Birth defect in which part of esophagus did not develop	Nogle gange (5–29 %)
Intestinal malrotation	Nogle gange (5–29 %)
Umbilical hernia	Nogle gange (5–29 %)
Poor swallowing	Sjældent (1–4%)
Pyloric stenosis	Ikke registreret
Stomach cancer	Ikke registreret

Abnormality of the respiratory system

Trait	Hvor ofte det ses
Tracheal cartilaginous sleeve	Altid
Breathing difficulties	Meget ofte (80–99 %)
Floppy windpipe	Meget ofte (80–99 %)
Softening of voice box tissue	Meget ofte (80–99 %)
Obstructive lung disease	Nogle gange (5–29 %)
Respiratory function loss	Nogle gange (5–29 %)
Hypoplasia of the epiglottis	Sjældent (1–4%)
Anomalous tracheal cartilage	Ikke registreret
Breath-holding spell	Ikke registreret
Bronchomalacia	Ikke registreret
Upper airway obstruction	Ikke registreret

Abnormality of the cardiovascular system

Trait	Hvor ofte det ses
High blood pressure	Altid
Visceral angiomatosis	Meget ofte (80–99 %)
Abnormal cardiovascular system morphology	Nogle gange (5–29 %)
Abnormality of the heart	Nogle gange (5–29 %)
Enlarged liver and spleen	Nogle gange (5–29 %)
Patent ductus arteriosus	Sjældent (1–4%)
An opening in the wall separating the top two chambers of the heart	Ikke registreret
Hole in heart wall separating two lower heart chambers	Ikke registreret
Overriding aorta	Ikke registreret

Abnormality of the breast

Trait	Hvor ofte det ses
Wide-spaced nipples	Ofte (30–79 %)
Breast cancer	Ikke registreret

Growth abnormality

Trait	Hvor ofte det ses
Short stature	Nogle gange (5–29 %)
Growth abnormality	Ikke registreret

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte det ses
Extramedullary hematopoiesis	Meget ofte (80–99 %)

Abnormality of prenatal development or birth

Trait	Hvor ofte det ses
High levels of amniotic fluid	Ofte (30–79 %)

Abnormality of the immune system

Trait	Hvor ofte det ses
Acne	Ikke registreret

Laboratory abnormality

Trait	Hvor ofte det ses
Increased level of L-fucose in urine	Ikke registreret

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

The Human Phenotype Ontology, release 2026-09-01: the traits linked to FGFR2 and how often each is seen. Find out more at hpo.jax.org.

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