Traits

Traits linked to FGFR3

fibroblast growth factor receptor 3

The Human Phenotype Ontology links 328 traits to FGFR3, 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
Absent lacrimal punctum	Altid
Absent tear duct	Altid
Big calvaria	Altid
Cloverleaf cranium shape	Altid
Cone shaped tooth	Altid
Dental cavities	Altid
Depressed nasal bridge	Altid
Frontal bossing	Altid
High palate	Altid
Little foramen magnum	Altid
Midface retrusion	Altid
Narrowing of the rear opening of the nasal cavity	Altid
Pink eye	Altid
Prominent forehead	Altid
Short neck	Altid
Unopened tear duct	Altid
Abnormal dentition	Meget ofte (80–99 %)
Abnormality of the skull	Meget ofte (80–99 %)
Aplasia/Hypoplasia of the mandible	Meget ofte (80–99 %)
Broad forehead	Meget ofte (80–99 %)
Broad head shape	Meget ofte (80–99 %)
Coronal craniosynostosis	Meget ofte (80–99 %)
Decreased size of tooth	Meget ofte (80–99 %)
Deformity of the skull	Meget ofte (80–99 %)
Facial asymmetry	Meget ofte (80–99 %)
Failure of development of between one and six teeth	Meget ofte (80–99 %)
Flat face	Meget ofte (80–99 %)
High forehead	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 midface	Ofte (30–79 %)
Abnormality of the salivary glands	Ofte (30–79 %)
Abnormally small head	Ofte (30–79 %)
Asymmetry of the posterior head	Ofte (30–79 %)
Beaked nose	Ofte (30–79 %)
Blockage of the rear opening of the nasal cavity	Ofte (30–79 %)
Decreased salivary flow	Ofte (30–79 %)
Decreased size of maxilla	Ofte (30–79 %)
Delayed cranial suture closure	Ofte (30–79 %)
Downward slanting of the opening between the eyelids	Ofte (30–79 %)
Dry eye syndrome	Ofte (30–79 %)
Eyelid spasm	Ofte (30–79 %)
Flattened bony protrusion above eyes	Ofte (30–79 %)
High, narrow palate	Ofte (30–79 %)
Increased nuchal translucency	Ofte (30–79 %)
Low frontal hairline	Ofte (30–79 %)
Narrow palate	Ofte (30–79 %)
Narrowing of the tear duct	Ofte (30–79 %)
Nasal tip, upturned	Ofte (30–79 %)
Open bite	Ofte (30–79 %)
Parietal bossing	Ofte (30–79 %)
Prominent nasal bridge	Ofte (30–79 %)
Short nasal bridge	Ofte (30–79 %)
Tall shaped head	Ofte (30–79 %)
Wider-than-typical soft spot of skull	Ofte (30–79 %)
Zygomatic flattening	Ofte (30–79 %)
Abnormal facial shape	Nogle gange (5–29 %)
Abnormality of the palate	Nogle gange (5–29 %)
Absent tear gland	Nogle gange (5–29 %)
Bifid uvula	Nogle gange (5–29 %)
Cleft palate	Nogle gange (5–29 %)
Encephalocele	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 %)
Cleft of the mouth	Sjældent (1–4%)
Little lower jaw	Sjældent (1–4%)
Lost smell	Sjældent (1–4%)
Bad bite	Ikke registreret
Small face	Ikke registreret
Temporal bossing	Ikke registreret

Abnormality of limbs

Trait	Hvor ofte det ses
Bowed legs	Altid
Bowed thighbone	Altid
Bowing of outer large bone of the forearm	Altid
Curving of inner forearm bone	Altid
Disproportionately short upper portion of limb	Altid
Duplication of thumb phalanx	Altid
Flared wide portion of long bone	Altid
Long slender fingers	Altid
Short thighbone	Altid
Smaller or shorter than typical limbs	Altid
Trident hand	Altid
Abnormality of lower limb joint	Meget ofte (80–99 %)
Abnormality of the wide portion of a long bone	Meget ofte (80–99 %)
Bowing of the long bones	Meget ofte (80–99 %)
Curvature of little finger	Meget ofte (80–99 %)
Finger syndactyly	Meget ofte (80–99 %)
Limb undergrowth	Meget ofte (80–99 %)
Metaphyseal chondrodysplasia	Meget ofte (80–99 %)
Permanent flexion of the finger	Meget ofte (80–99 %)
Short fingers or toes	Meget ofte (80–99 %)
Short toe	Meget ofte (80–99 %)
Split hand	Meget ofte (80–99 %)
Abnormal shape of long bones of hand	Ofte (30–79 %)
Abnormality of fingers or toes	Ofte (30–79 %)
Abnormality of the elbow	Ofte (30–79 %)
Abnormality of the thighbone	Ofte (30–79 %)
Bilateral single transverse palmar creases	Ofte (30–79 %)
Bowed calf bone	Ofte (30–79 %)
Bowed shankbone	Ofte (30–79 %)
Broad big toe	Ofte (30–79 %)
Broad thumb	Ofte (30–79 %)
Cone-shaped end part of finger bones	Ofte (30–79 %)
Fused ankle bones	Ofte (30–79 %)
Fused wrist bones	Ofte (30–79 %)
Hip joint hypermobility	Ofte (30–79 %)
Knee joint over-flexibility	Ofte (30–79 %)
Limited elbow extension	Ofte (30–79 %)
Outward bow-leggedness	Ofte (30–79 %)
Short foot	Ofte (30–79 %)
Short middle bone of finger	Ofte (30–79 %)
Short neck of thighbone	Ofte (30–79 %)
Short palm	Ofte (30–79 %)
Short proximal phalanx of finger	Ofte (30–79 %)
Thimble-shaped middle bones of hand	Ofte (30–79 %)
Abnormality of the thumb	Nogle gange (5–29 %)
Absent thumb	Nogle gange (5–29 %)
Broad toe	Nogle gange (5–29 %)
Bunion	Nogle gange (5–29 %)
Curvature of digit	Nogle gange (5–29 %)
Disproportionately short middle portion of limb	Nogle gange (5–29 %)
Duplication of the outermost bone of big toe	Nogle gange (5–29 %)
Excessive wrinkled skin of palms and soles	Nogle gange (5–29 %)
Finger-like thumb	Nogle gange (5–29 %)
Flat acetabular roof	Nogle gange (5–29 %)
Fused forearm bones	Nogle gange (5–29 %)
Fused long bones of hand	Nogle gange (5–29 %)
Fused toes	Nogle gange (5–29 %)
Proximal radio-ulnar synostosis	Nogle gange (5–29 %)
Short thumb	Nogle gange (5–29 %)
Underdeveloped outer large forearm bone	Nogle gange (5–29 %)
Webbed fingers or toes	Nogle gange (5–29 %)
Absent/small extremities	Ikke registreret
Broad wide portion of thigh bone	Ikke registreret
Camptodactyly of toe	Ikke registreret
Capitate-hamate fusion	Ikke registreret
Irregular wide portion of a long bone	Ikke registreret
Radial deviation of finger	Ikke registreret
Short middle bones (feet)	Ikke registreret

Abnormality of the musculoskeletal system

Trait	Hvor ofte det ses
Flattened vertebrae	Altid
Hypoplastic pelvis	Altid
Narrow chest	Altid
Narrow greater sciatic notch	Altid
Narrow vertebral interpedicular distance	Altid
Scoliosis	Altid
Severe platyspondyly	Altid
Short long bone	Altid
Short ribs	Altid
Small chest	Altid
Widened interpedicular distance	Altid
Abnormal sacroiliac joint morphology	Meget ofte (80–99 %)
Abnormal skeletal development	Meget ofte (80–99 %)
Abnormal vertebral body morphology	Meget ofte (80–99 %)
Double-Jointed	Meget ofte (80–99 %)
Hunched back	Meget ofte (80–99 %)
Low muscle tone	Meget ofte (80–99 %)
Permanent flexion of the finger or toe	Meget ofte (80–99 %)
Short greater sciatic notch	Meget ofte (80–99 %)
Shorter than typical length between neck and abdomen	Meget ofte (80–99 %)
Small wings of the pelvic girdle	Meget ofte (80–99 %)
Thoracolumbar kyphosis	Meget ofte (80–99 %)
Abnormal collarbone	Ofte (30–79 %)
Abnormal shape of pelvic girdle bone	Ofte (30–79 %)
Cervical spinal canal stenosis	Ofte (30–79 %)
Cone-shaped end part of bone	Ofte (30–79 %)
Decreased muscle tone in infant	Ofte (30–79 %)
Excessive inward curvature of lower spine	Ofte (30–79 %)
Formation of new noncancerous bone on top of existing bone	Ofte (30–79 %)
Narrow spinal canal	Ofte (30–79 %)
Prominent swayback	Ofte (30–79 %)
Abnormal iliac wing morphology	Nogle gange (5–29 %)
Abnormal sacrum morphology	Nogle gange (5–29 %)
Degenerative joint disease	Nogle gange (5–29 %)
Joint stiffness	Nogle gange (5–29 %)
Limitation of joint mobility	Nogle gange (5–29 %)
Arthritis	Sjældent (1–4%)
Craniocervical junction constriction	Ikke registreret
Funnel chest	Ikke registreret
Hunched back in infancy	Ikke registreret
Hypermobility of all joints	Ikke registreret
Increased vertebral height	Ikke registreret
Limited hip extension	Ikke registreret
Osteochondroma	Ikke registreret
Small abnormally formed shoulder blade	Ikke registreret
Spinal stenosis with reduced interpedicular distance	Ikke registreret
Wide-cupped costochondral junctions	Ikke registreret

Abnormality of the nervous system

Trait	Hvor ofte det ses
Global developmental delay	Altid
Intellectual disability	Altid
Too much cerebrospinal fluid in the brain	Altid
Underdevelopment of part of brain called corpus callosum	Altid
Brain degeneration	Meget ofte (80–99 %)
Cognitive impairment	Meget ofte (80–99 %)
Enlarged cerebellum	Meget ofte (80–99 %)
Generalized-onset seizure	Meget ofte (80–99 %)
Intellectual disability, severe	Meget ofte (80–99 %)
IQ less than 20	Meget ofte (80–99 %)
Severe global developmental delay	Meget ofte (80–99 %)
Absent/small cerebellum	Ofte (30–79 %)
Central sleep apnea	Ofte (30–79 %)
Chiari malformation	Ofte (30–79 %)
Epilepsy	Ofte (30–79 %)
Focal impaired awareness seizure	Ofte (30–79 %)
Obstructive sleep apnea	Ofte (30–79 %)
Rise in pressure inside skull	Ofte (30–79 %)
Temporal lobe dysplasia	Ofte (30–79 %)
Ventriculomegaly	Ofte (30–79 %)
Abnormality of neuronal migration	Nogle gange (5–29 %)
Attention deficit	Nogle gange (5–29 %)
Enlarged brain	Nogle gange (5–29 %)
Gray matter heterotopia	Nogle gange (5–29 %)
Headache	Nogle gange (5–29 %)
Holoprosencephaly	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 %)
Small cerebellum	Nogle gange (5–29 %)
Brain stem compression	Ikke registreret
Motor delay	Ikke registreret

Abnormality of the eye

Trait	Hvor ofte det ses
Absence of tears in the eyes	Altid
Bulging eye	Altid
Abnormality of the eye	Ofte (30–79 %)
Cross-eyed	Ofte (30–79 %)
Drooping upper eyelid	Ofte (30–79 %)
Increased tears	Ofte (30–79 %)
Inflammatory abnormality of the eye	Ofte (30–79 %)
Outward facing eye ball	Ofte (30–79 %)
Wide-set eyes	Ofte (30–79 %)
Abnormally close eyes	Nogle gange (5–29 %)
Corneal ulceration	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 %)
Optic atrophy	Nogle gange (5–29 %)
Recurrent breakdown of clear protective layer of eye	Nogle gange (5–29 %)
Severe near sightedness	Nogle gange (5–29 %)
Visual impairment	Nogle gange (5–29 %)
Increased corneal thickness	Sjældent (1–4%)
Open angle glaucoma	Sjældent (1–4%)

Abnormality of the genitourinary system

Trait	Hvor ofte det ses
Uterine leiomyoma	Ofte (30–79 %)
Abnormality of the kidney	Nogle gange (5–29 %)
Loss of bladder control	Nogle gange (5–29 %)
Menstrual irregularity	Nogle gange (5–29 %)
Undescended testes	Nogle gange (5–29 %)
Heart shaped uterus	Sjældent (1–4%)
Hydronephrosis	Sjældent (1–4%)
Small kidneys	Sjældent (1–4%)
Vesicoureteral reflux	Sjældent (1–4%)
Absent sperm in semen	Ikke registreret
Bladder neoplasm	Ikke registreret
Cancer starting in small tubes in kidneys	Ikke registreret
Cervix cancer	Ikke registreret
Teratoma	Ikke registreret
Transitional cell carcinoma of the bladder	Ikke registreret
Uterine leiomyosarcoma	Ikke registreret

Abnormality of the ear

Trait	Hvor ofte det ses
Cupped ear	Altid
Hearing impairment	Altid
Small ears	Altid
Sensorineural hearing impairment	Meget ofte (80–99 %)
Abnormal antihelix morphology	Ofte (30–79 %)
Abnormally shaped ears	Ofte (30–79 %)
Conductive deafness	Ofte (30–79 %)
Functional abnormality of the middle ear	Ofte (30–79 %)
Narrow internal auditory canal	Ofte (30–79 %)
Prominent crus of helix	Ofte (30–79 %)
Recurrent middle ear infection	Ofte (30–79 %)
Low-set ears	Nogle gange (5–29 %)
Mixed hearing impairment	Nogle gange (5–29 %)

Abnormality of the integument

Trait	Hvor ofte det ses
Darkened and thickened skin	Altid
Loose redundant skin	Meget ofte (80–99 %)
Excessive wrinkled skin	Ofte (30–79 %)
Abnormal hair pattern	Nogle gange (5–29 %)
Hyperpigmented skin patches	Nogle gange (5–29 %)
Loss of hair color	Nogle gange (5–29 %)
Patchy loss of skin color	Nogle gange (5–29 %)
Skin tags	Nogle gange (5–29 %)
Atypical nail growth	Sjældent (1–4%)
Beauty mark	Ikke registreret
Numerous moles	Ikke registreret

Abnormality of the respiratory system

Trait	Hvor ofte det ses
Breathing difficulties	Altid
Neonatal respiratory distress	Altid
Poorly developed lungs	Altid
Absent/small lungs	Meget ofte (80–99 %)
Respiratory function loss	Meget ofte (80–99 %)
Central apnea	Ofte (30–79 %)
Low blood oxygen level	Nogle gange (5–29 %)
Respiratory failure	Nogle gange (5–29 %)
Stiff lung or chest wall causing decreased lung volume	Nogle gange (5–29 %)
Hypoplasia of the epiglottis	Sjældent (1–4%)
Upper airway obstruction	Ikke registreret

Growth abnormality

Trait	Hvor ofte det ses
Disproportionate short-limb short stature	Altid
Severe short stature	Altid
Tall stature	Altid
Childhood onset short-limb short stature	Meget ofte (80–99 %)
Disproportionate short stature	Meget ofte (80–99 %)
Lethal short-limbed short stature	Meget ofte (80–99 %)
Short stature	Meget ofte (80–99 %)
Obesity	Nogle gange (5–29 %)
Neonatal short-limb short stature	Ikke registreret

Abnormality of prenatal development or birth

Trait	Hvor ofte det ses
1-minute APGAR score of 1	Altid
5-minute APGAR score of 1	Altid
Champagne cork sign	Altid
Feet or buttocks of fetus positioned near opening of uterus	Altid
High levels of amniotic fluid	Altid
Premature rupture of membranes	Altid
Choriocarcinoma	Ikke registreret
Less than 10 fetal movements in 12 hours	Ikke registreret

Abnormality of the digestive system

Trait	Hvor ofte det ses
Belly sticks out	Altid
Feeding difficulties	Altid
Acid reflux	Ofte (30–79 %)
Loss of bowel control	Nogle gange (5–29 %)
Poor swallowing	Sjældent (1–4%)
Colon cancer	Ikke registreret
Hereditary nonpolyposis colorectal carcinoma	Ikke registreret
Stomach tumor	Ikke registreret

Abnormality of the cardiovascular system

Trait	Hvor ofte det ses
Cardiac failure	Ofte (30–79 %)
Increased blood pressure in blood vessels of lungs	Ofte (30–79 %)
Abnormal cardiovascular system morphology	Nogle gange (5–29 %)
Abnormality of the heart	Nogle gange (5–29 %)
An opening in the wall separating the top two chambers of the heart	Nogle gange (5–29 %)
Patent ductus arteriosus	Nogle gange (5–29 %)

Abnormal tissue mass

Trait	Hvor ofte det ses
Abnormal tissue mass	Ikke registreret
Embryonal neoplasm	Ikke registreret

Abnormality of the immune system

Trait	Hvor ofte det ses
Brain abscess	Nogle gange (5–29 %)

Laboratory abnormality

Trait	Hvor ofte det ses
Elevated circulating alpha-fetoprotein concentration	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 FGFR3 and how often each is seen. Find out more at hpo.jax.org.

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