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	How often it is seen
Beaked nose	Always
Bifid uvula	Always
Born with teeth	Always
Cloverleaf cranium shape	Always
Coronal craniosynostosis	Always
Crease in skin under the eye	Always
Deformity of the skull	Always
Depressed nasal bridge	Always
Deviated nasal septum	Always
Downward slanting of the opening between the eyelids	Always
Flat back of skull	Always
Flattened bony protrusion above eyes	Always
Frontal bossing	Always
Furrows in thickened skin on top of scalp	Always
Gum enlargement	Always
High palate	Always
High, prominent forehead	Always
Midface retrusion	Always
Narrow mouth	Always
Narrow palate	Always
Narrowing of the rear opening of the nasal cavity	Always
Nasal tip, upturned	Always
Pit in front of the ear	Always
Preauricular skin groove	Always
Prominent forehead	Always
Prominent nasal bridge	Always
Redundant neck skin	Always
Soft skullcap	Always
Wide fontanelles	Always
Abnormal dentition	Very often (80–99%)
Abnormal facial shape	Very often (80–99%)
Abnormality of the face	Very often (80–99%)
Abnormality of the skull	Very often (80–99%)
Acrobrachycephaly	Very often (80–99%)
Bad bite	Very often (80–99%)
Bicoronal synostosis	Very often (80–99%)
Big calvaria	Very often (80–99%)
Blockage of the rear opening of the nasal cavity	Very often (80–99%)
Broad forehead	Very often (80–99%)
Broad head shape	Very often (80–99%)
Cheekbone underdevelopment	Very often (80–99%)
Decreased number of teeth	Very often (80–99%)
Decreased size of maxilla	Very often (80–99%)
Dental crowding	Very often (80–99%)
Depression of frontal cranial suture	Very often (80–99%)
Facial asymmetry	Very often (80–99%)
Flat face	Very often (80–99%)
High forehead	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Long, narrow head	Very often (80–99%)
Multiple suture craniosynostosis	Very often (80–99%)
Short nose	Very often (80–99%)
Tall shaped head	Very often (80–99%)
Zygomatic flattening	Very often (80–99%)
Abnormal lacrimal duct morphology	Often (30–79%)
Abnormal lacrimal gland morphology	Often (30–79%)
Abnormal tooth enamel	Often (30–79%)
Abnormality of the palate	Often (30–79%)
Abnormality of the salivary glands	Often (30–79%)
Absent lacrimal punctum	Often (30–79%)
Asymmetry of the posterior head	Often (30–79%)
Big lower jaw	Often (30–79%)
Decreased depth of eye sockets	Often (30–79%)
Decreased salivary flow	Often (30–79%)
Decreased size of tooth	Often (30–79%)
Delayed cranial suture closure	Often (30–79%)
Delayed eruption of teeth	Often (30–79%)
Dental cavities	Often (30–79%)
Dry eye syndrome	Often (30–79%)
Early closure of midline skull joint	Often (30–79%)
Eyelid spasm	Often (30–79%)
Failure of development of between one and six teeth	Often (30–79%)
Lambdoidal craniosynostosis	Often (30–79%)
Low frontal hairline	Often (30–79%)
Narrowing of the tear duct	Often (30–79%)
Open bite	Often (30–79%)
Pink eye	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Absent tear duct	Sometimes (5–29%)
Absent tear gland	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Cone shaped front tooth	Sometimes (5–29%)
Corners of eye widely separated	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Holes in parietal bones	Sometimes (5–29%)
Hypoplasia of the lacrimal punctum	Sometimes (5–29%)
Keratoconjunctivitis	Sometimes (5–29%)
Thin dental enamel	Sometimes (5–29%)
Triangular head shape	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)
Cleft of the mouth	Rarely (1–4%)
Lost smell	Rarely (1–4%)
Abnormal nasolacrimal system morphology	Not recorded
Absence of Stensen duct	Not recorded
Aplasia of the parotid gland	Not recorded
Blocked tear duct	Not recorded
Cleft of chin	Not recorded
Craniofacial dysostosis	Not recorded
Dacryocystitis	Not recorded
Delayed eruption of baby teeth	Not recorded
Flat forehead	Not recorded
Fullness around the eyes	Not recorded
Long nose	Not recorded
Long philtrum	Not recorded
Narrow nose	Not recorded
Oxycephaly	Not recorded
Posterior fossa cyst	Not recorded
Skull asymmetry	Not recorded
Underdeveloped tear duct	Not recorded
Underdeveloped tear gland	Not recorded
Wider-than-typical soft spot of skull	Not recorded

Abnormality of limbs

Trait	How often it is seen
Broad big toe	Always
Excessive wrinkled skin of palms and soles	Always
Finger syndactyly	Always
Overlapping toe	Always
Webbed fingers	Always
Webbed skin of toes	Always
Abnormal thumb placement	Very often (80–99%)
Absent/small thumb	Very often (80–99%)
Broad bone of big toe	Very often (80–99%)
Broad thumb	Very often (80–99%)
Curvature of little finger	Very often (80–99%)
Fused toes	Very often (80–99%)
Hallux varus	Very often (80–99%)
Palmoplantar cutis gyrata	Very often (80–99%)
Short big toe	Very often (80–99%)
Short fingers or toes	Very often (80–99%)
Short long bone of foot	Very often (80–99%)
Steep acetabular roof	Very often (80–99%)
Thickening of palms and soles	Very often (80–99%)
Wide 1st long bone of foot	Very often (80–99%)
Wide long bone of foot	Very often (80–99%)
Abnormality of fingers or toes	Often (30–79%)
Bilateral single transverse palmar creases	Often (30–79%)
Broad innermost bone of the big toe	Often (30–79%)
Broad outermost bone of big toe	Often (30–79%)
Cutaneous syndactyly	Often (30–79%)
Limited elbow movement	Often (30–79%)
Partial duplication of the thumb bones	Often (30–79%)
Rhizomelic arm shortening	Often (30–79%)
Short 1st long bone of foot	Often (30–79%)
Short foot	Often (30–79%)
Short palm	Often (30–79%)
Short thumb	Often (30–79%)
Small hand	Often (30–79%)
Webbed 2nd and 3rd toes	Often (30–79%)
Webbed fingers or toes	Often (30–79%)
3-4 toe cutaneous syndactyly	Sometimes (5–29%)
Abnormality of the calf bone	Sometimes (5–29%)
Abnormality of the lower limb	Sometimes (5–29%)
Abnormality of the thumb	Sometimes (5–29%)
Absent thumb	Sometimes (5–29%)
Bowed legs	Sometimes (5–29%)
Broad toe	Sometimes (5–29%)
Bunion	Sometimes (5–29%)
Calcaneonavicular fusion	Sometimes (5–29%)
Curvature of digit	Sometimes (5–29%)
Duplication of the outermost bone of big toe	Sometimes (5–29%)
Duplication of thumb phalanx	Sometimes (5–29%)
Extra little finger	Sometimes (5–29%)
Extra thumb	Sometimes (5–29%)
Finger-like thumb	Sometimes (5–29%)
Fused finger bones	Sometimes (5–29%)
Fused forearm bones	Sometimes (5–29%)
Preaxial foot polydactyly	Sometimes (5–29%)
Proximal radio-ulnar synostosis	Sometimes (5–29%)
Smaller or shorter than typical limbs	Sometimes (5–29%)
Split foot	Sometimes (5–29%)
Underdeveloped outer large forearm bone	Sometimes (5–29%)
Absent 1st long bone of foot	Not recorded
Absent innermost thumb bone	Not recorded
Bilateral triphalangeal thumbs	Not recorded
Bowed thighbone	Not recorded
Broad distal hallux	Not recorded
Broad outermost bone of the thumb	Not recorded
Curving of inner forearm bone	Not recorded
Elbow ankylosis	Not recorded
Fusion of upper and lower arm bones	Not recorded
Fusion of wrist bones	Not recorded
Inward turned middle finger	Not recorded
Limited elbow extension	Not recorded
Long slender fingers	Not recorded
Missing outer large bone of forearm	Not recorded
Notched outermost bone of the index finger	Not recorded
Notched outermost bone of the middle finger	Not recorded
Preaxial polydactyly	Not recorded
Rocker bottom foot	Not recorded
Short middle bones (feet)	Not recorded
Shortening of all middle phalanges of the fingers	Not recorded
Small thenar eminence	Not recorded
Underdeveloped inner large forearm bone	Not recorded
Webbed 2nd-3rd fingers	Not recorded

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Always
Drooping upper eyelid	Always
Exodeviation	Always
Increased size of eyes	Always
Optic atrophy	Always
Wide-set eyes	Always
Enlarged cornea	Very often (80–99%)
Night blindness since birth	Very often (80–99%)
Abnormality of the eye	Often (30–79%)
Absence of tears in the eyes	Often (30–79%)
Close sighted	Often (30–79%)
Cross-eyed	Often (30–79%)
Increased tears	Often (30–79%)
Abnormality of vision	Sometimes (5–29%)
Abnormally close eyes	Sometimes (5–29%)
Anisometropia	Sometimes (5–29%)
Cat eye	Sometimes (5–29%)
Corneal ulceration	Sometimes (5–29%)
Damage to outer layer of the cornea of the eye	Sometimes (5–29%)
Decreased corneal sensation	Sometimes (5–29%)
Lazy eye	Sometimes (5–29%)
Limbal stem cell deficiency	Sometimes (5–29%)
New blood vessel formation in cornea	Sometimes (5–29%)
Recurrent breakdown of clear protective layer of eye	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)
Visual loss	Sometimes (5–29%)
Increased corneal thickness	Rarely (1–4%)
Open angle glaucoma	Rarely (1–4%)
Outward facing eye ball	Rarely (1–4%)
Corneal inflammation	Not recorded
Corneal perforation	Not recorded
Enlarged eyeball	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Bent long bone	Always
Hypoplastic pubic bone	Always
Short collarbone	Always
Abnormal periosteum morphology	Very often (80–99%)
Bell-shaped thorax	Very often (80–99%)
Hypoplastic ischia	Very often (80–99%)
Incomplete maturation of the pubic bone	Very often (80–99%)
Limitation of joint mobility	Very often (80–99%)
Osteopenia	Very often (80–99%)
Cervical C5/C6 vertebrae fusion	Often (30–79%)
Delayed maturation of end part of long bone	Often (30–79%)
Pigeon chest	Often (30–79%)
Prominent swayback	Often (30–79%)
Vertebral segmentation defect	Often (30–79%)
Abnormal sacrum morphology	Sometimes (5–29%)
Abnormal vertebral body morphology	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Arthritis	Rarely (1–4%)
Abnormal cervical spine	Not recorded
Abnormal shape of pelvic girdle bone	Not recorded
Cervical C6/C7 vertebrae fusion	Not recorded
Flexed joint that cannot be straightened	Not recorded
Glenoid dysplasia	Not recorded
Narrow chest	Not recorded
Narrow pelvis bone	Not recorded
Permanent flexion of the finger or toe	Not recorded

Abnormality of the ear

Trait	How often it is seen
Absent ear canal	Always
Conductive deafness	Always
Cupped ear	Always
Ears rotated toward back of head	Always
Hearing impairment	Always
Abnormality of the outer ear	Very often (80–99%)
Absent/small ear lobes	Very often (80–99%)
Hearing abnormality	Very often (80–99%)
Large ears	Very often (80–99%)
Low-set ears	Very often (80–99%)
Narrow ear canal	Very often (80–99%)
Overfolding of the superior helices	Very often (80–99%)
Abnormal antihelix morphology	Often (30–79%)
Abnormal semicircular canal morphology	Often (30–79%)
Abnormally shaped ears	Often (30–79%)
Chronic infections of the middle ear	Often (30–79%)
Narrow internal auditory canal	Often (30–79%)
Prominent crus of helix	Often (30–79%)
Small ears	Often (30–79%)
Middle ear infection	Sometimes (5–29%)
Mixed hearing impairment	Sometimes (5–29%)
Sensorineural hearing impairment	Sometimes (5–29%)
Thickened helices	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Chiari malformation	Always
Global developmental delay	Always
Too much cerebrospinal fluid in the brain	Always
Ventriculomegaly	Always
Aqueductal stenosis	Very often (80–99%)
Absent septum pellucidum	Often (30–79%)
Agenesis of corpus callosum	Often (30–79%)
Epilepsy	Often (30–79%)
Intellectual disability	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
Rise in pressure inside skull	Often (30–79%)
Small cerebellum	Often (30–79%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Sometimes (5–29%)
Headache	Sometimes (5–29%)
IQ between 34 and 49	Sometimes (5–29%)
Migraine	Sometimes (5–29%)
Pauses in breathing while sleeping	Sometimes (5–29%)
Abnormal morphology of the limbic system	Not recorded
Chiari type I malformation	Not recorded
Enlarged brain	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Enlarged clitoris	Always
Hypospadias	Always
Prominent scrotal raphe	Always
Small labia majora	Always
Cleft of scrotum	Often (30–79%)
Undescended testes	Often (30–79%)
Abnormality of the genitourinary system	Sometimes (5–29%)
Horseshoe kidney	Sometimes (5–29%)
Hydronephrosis	Sometimes (5–29%)
Vesicoureteral reflux	Sometimes (5–29%)
Heart shaped uterus	Rarely (1–4%)
Small kidneys	Rarely (1–4%)
Abnormally closed or absent vagina	Not recorded
Abnormally shaped kidney	Not recorded
Absent kidney	Not recorded
Coronal hypospadias	Not recorded
Dysgerminoma	Not recorded
Fused inner lips	Not recorded
Scarring of kidney arteries	Not recorded

Abnormality of the integument

Trait	How often it is seen
Darkened and thickened skin	Always
Excessive hairiness	Always
Skin tags	Always
Small fingernail	Always
Beauty mark	Very often (80–99%)
Firm lump under the skin	Very often (80–99%)
Excessive sweating	Often (30–79%)
Abnormal hair pattern	Sometimes (5–29%)
Abnormality of the nail	Sometimes (5–29%)
Patchy loss of skin color	Sometimes (5–29%)
Poor nail formation	Sometimes (5–29%)
Atypical nail growth	Rarely (1–4%)
Hyperelastic skin	Not recorded
Small nail	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Anteriorly placed anus	Always
Feeding difficulties in infancy	Always
Redundant umbilical skin	Always
Abnormality of the pancreas	Very often (80–99%)
Abnormal anus position	Sometimes (5–29%)
Absent anus	Sometimes (5–29%)
Birth defect in which part of esophagus did not develop	Sometimes (5–29%)
Intestinal malrotation	Sometimes (5–29%)
Umbilical hernia	Sometimes (5–29%)
Poor swallowing	Rarely (1–4%)
Pyloric stenosis	Not recorded
Stomach cancer	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Tracheal cartilaginous sleeve	Always
Breathing difficulties	Very often (80–99%)
Floppy windpipe	Very often (80–99%)
Softening of voice box tissue	Very often (80–99%)
Obstructive lung disease	Sometimes (5–29%)
Respiratory function loss	Sometimes (5–29%)
Hypoplasia of the epiglottis	Rarely (1–4%)
Anomalous tracheal cartilage	Not recorded
Breath-holding spell	Not recorded
Bronchomalacia	Not recorded
Upper airway obstruction	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Always
Visceral angiomatosis	Very often (80–99%)
Abnormal cardiovascular system morphology	Sometimes (5–29%)
Abnormality of the heart	Sometimes (5–29%)
Enlarged liver and spleen	Sometimes (5–29%)
Patent ductus arteriosus	Rarely (1–4%)
An opening in the wall separating the top two chambers of the heart	Not recorded
Hole in heart wall separating two lower heart chambers	Not recorded
Overriding aorta	Not recorded

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Often (30–79%)
Breast cancer	Not recorded

Growth abnormality

Trait	How often it is seen
Short stature	Sometimes (5–29%)
Growth abnormality	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Extramedullary hematopoiesis	Very often (80–99%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Acne	Not recorded

Laboratory abnormality

Trait	How often it is seen
Increased level of L-fucose in urine	Not recorded

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

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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