Kjennetegn

Kjennetegn knyttet til FGFR3

fibroblast growth factor receptor 3

Human Phenotype Ontology knytter 328 kjennetegn til FGFR3, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

FGFR3

Abnormality of head or neck

Kjennetegn	Hvor ofte den forekommer
Absent lacrimal punctum	Alltid
Absent tear duct	Alltid
Big calvaria	Alltid
Cloverleaf cranium shape	Alltid
Cone shaped tooth	Alltid
Dental cavities	Alltid
Depressed nasal bridge	Alltid
Frontal bossing	Alltid
High palate	Alltid
Little foramen magnum	Alltid
Midface retrusion	Alltid
Narrowing of the rear opening of the nasal cavity	Alltid
Pink eye	Alltid
Prominent forehead	Alltid
Short neck	Alltid
Unopened tear duct	Alltid
Abnormal dentition	Svært ofte (80–99 %)
Abnormality of the skull	Svært ofte (80–99 %)
Aplasia/Hypoplasia of the mandible	Svært ofte (80–99 %)
Broad forehead	Svært ofte (80–99 %)
Broad head shape	Svært ofte (80–99 %)
Coronal craniosynostosis	Svært ofte (80–99 %)
Decreased size of tooth	Svært ofte (80–99 %)
Deformity of the skull	Svært ofte (80–99 %)
Facial asymmetry	Svært ofte (80–99 %)
Failure of development of between one and six teeth	Svært ofte (80–99 %)
Flat face	Svært ofte (80–99 %)
High forehead	Svært 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	Noen ganger (5–29 %)
Abnormality of the palate	Noen ganger (5–29 %)
Absent tear gland	Noen ganger (5–29 %)
Bifid uvula	Noen ganger (5–29 %)
Cleft palate	Noen ganger (5–29 %)
Encephalocele	Noen ganger (5–29 %)
Eye folds	Noen ganger (5–29 %)
Holes in parietal bones	Noen ganger (5–29 %)
Hypoplasia of the lacrimal punctum	Noen ganger (5–29 %)
Keratoconjunctivitis	Noen ganger (5–29 %)
Thin dental enamel	Noen ganger (5–29 %)
Cleft of the mouth	Sjelden (1–4%)
Little lower jaw	Sjelden (1–4%)
Lost smell	Sjelden (1–4%)
Bad bite	Ikke registrert
Small face	Ikke registrert
Temporal bossing	Ikke registrert

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Bowed legs	Alltid
Bowed thighbone	Alltid
Bowing of outer large bone of the forearm	Alltid
Curving of inner forearm bone	Alltid
Disproportionately short upper portion of limb	Alltid
Duplication of thumb phalanx	Alltid
Flared wide portion of long bone	Alltid
Long slender fingers	Alltid
Short thighbone	Alltid
Smaller or shorter than typical limbs	Alltid
Trident hand	Alltid
Abnormality of lower limb joint	Svært ofte (80–99 %)
Abnormality of the wide portion of a long bone	Svært ofte (80–99 %)
Bowing of the long bones	Svært ofte (80–99 %)
Curvature of little finger	Svært ofte (80–99 %)
Finger syndactyly	Svært ofte (80–99 %)
Limb undergrowth	Svært ofte (80–99 %)
Metaphyseal chondrodysplasia	Svært ofte (80–99 %)
Permanent flexion of the finger	Svært ofte (80–99 %)
Short fingers or toes	Svært ofte (80–99 %)
Short toe	Svært ofte (80–99 %)
Split hand	Svært 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	Noen ganger (5–29 %)
Absent thumb	Noen ganger (5–29 %)
Broad toe	Noen ganger (5–29 %)
Bunion	Noen ganger (5–29 %)
Curvature of digit	Noen ganger (5–29 %)
Disproportionately short middle portion of limb	Noen ganger (5–29 %)
Duplication of the outermost bone of big toe	Noen ganger (5–29 %)
Excessive wrinkled skin of palms and soles	Noen ganger (5–29 %)
Finger-like thumb	Noen ganger (5–29 %)
Flat acetabular roof	Noen ganger (5–29 %)
Fused forearm bones	Noen ganger (5–29 %)
Fused long bones of hand	Noen ganger (5–29 %)
Fused toes	Noen ganger (5–29 %)
Proximal radio-ulnar synostosis	Noen ganger (5–29 %)
Short thumb	Noen ganger (5–29 %)
Underdeveloped outer large forearm bone	Noen ganger (5–29 %)
Webbed fingers or toes	Noen ganger (5–29 %)
Absent/small extremities	Ikke registrert
Broad wide portion of thigh bone	Ikke registrert
Camptodactyly of toe	Ikke registrert
Capitate-hamate fusion	Ikke registrert
Irregular wide portion of a long bone	Ikke registrert
Radial deviation of finger	Ikke registrert
Short middle bones (feet)	Ikke registrert

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
Flattened vertebrae	Alltid
Hypoplastic pelvis	Alltid
Narrow chest	Alltid
Narrow greater sciatic notch	Alltid
Narrow vertebral interpedicular distance	Alltid
Scoliosis	Alltid
Severe platyspondyly	Alltid
Short long bone	Alltid
Short ribs	Alltid
Small chest	Alltid
Widened interpedicular distance	Alltid
Abnormal sacroiliac joint morphology	Svært ofte (80–99 %)
Abnormal skeletal development	Svært ofte (80–99 %)
Abnormal vertebral body morphology	Svært ofte (80–99 %)
Double-Jointed	Svært ofte (80–99 %)
Hunched back	Svært ofte (80–99 %)
Low muscle tone	Svært ofte (80–99 %)
Permanent flexion of the finger or toe	Svært ofte (80–99 %)
Short greater sciatic notch	Svært ofte (80–99 %)
Shorter than typical length between neck and abdomen	Svært ofte (80–99 %)
Small wings of the pelvic girdle	Svært ofte (80–99 %)
Thoracolumbar kyphosis	Svært 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	Noen ganger (5–29 %)
Abnormal sacrum morphology	Noen ganger (5–29 %)
Degenerative joint disease	Noen ganger (5–29 %)
Joint stiffness	Noen ganger (5–29 %)
Limitation of joint mobility	Noen ganger (5–29 %)
Arthritis	Sjelden (1–4%)
Craniocervical junction constriction	Ikke registrert
Funnel chest	Ikke registrert
Hunched back in infancy	Ikke registrert
Hypermobility of all joints	Ikke registrert
Increased vertebral height	Ikke registrert
Limited hip extension	Ikke registrert
Osteochondroma	Ikke registrert
Small abnormally formed shoulder blade	Ikke registrert
Spinal stenosis with reduced interpedicular distance	Ikke registrert
Wide-cupped costochondral junctions	Ikke registrert

Abnormality of the nervous system

Kjennetegn	Hvor ofte den forekommer
Global developmental delay	Alltid
Intellectual disability	Alltid
Too much cerebrospinal fluid in the brain	Alltid
Underdevelopment of part of brain called corpus callosum	Alltid
Brain degeneration	Svært ofte (80–99 %)
Cognitive impairment	Svært ofte (80–99 %)
Enlarged cerebellum	Svært ofte (80–99 %)
Generalized-onset seizure	Svært ofte (80–99 %)
Intellectual disability, severe	Svært ofte (80–99 %)
IQ less than 20	Svært ofte (80–99 %)
Severe global developmental delay	Svært 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	Noen ganger (5–29 %)
Attention deficit	Noen ganger (5–29 %)
Enlarged brain	Noen ganger (5–29 %)
Gray matter heterotopia	Noen ganger (5–29 %)
Headache	Noen ganger (5–29 %)
Holoprosencephaly	Noen ganger (5–29 %)
IQ between 34 and 49	Noen ganger (5–29 %)
Migraine	Noen ganger (5–29 %)
Pauses in breathing while sleeping	Noen ganger (5–29 %)
Small cerebellum	Noen ganger (5–29 %)
Brain stem compression	Ikke registrert
Motor delay	Ikke registrert

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Absence of tears in the eyes	Alltid
Bulging eye	Alltid
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	Noen ganger (5–29 %)
Corneal ulceration	Noen ganger (5–29 %)
Decreased corneal sensation	Noen ganger (5–29 %)
Lazy eye	Noen ganger (5–29 %)
Limbal stem cell deficiency	Noen ganger (5–29 %)
New blood vessel formation in cornea	Noen ganger (5–29 %)
Optic atrophy	Noen ganger (5–29 %)
Recurrent breakdown of clear protective layer of eye	Noen ganger (5–29 %)
Severe near sightedness	Noen ganger (5–29 %)
Visual impairment	Noen ganger (5–29 %)
Increased corneal thickness	Sjelden (1–4%)
Open angle glaucoma	Sjelden (1–4%)

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Uterine leiomyoma	Ofte (30–79 %)
Abnormality of the kidney	Noen ganger (5–29 %)
Loss of bladder control	Noen ganger (5–29 %)
Menstrual irregularity	Noen ganger (5–29 %)
Undescended testes	Noen ganger (5–29 %)
Heart shaped uterus	Sjelden (1–4%)
Hydronephrosis	Sjelden (1–4%)
Small kidneys	Sjelden (1–4%)
Vesicoureteral reflux	Sjelden (1–4%)
Absent sperm in semen	Ikke registrert
Bladder neoplasm	Ikke registrert
Cancer starting in small tubes in kidneys	Ikke registrert
Cervix cancer	Ikke registrert
Teratoma	Ikke registrert
Transitional cell carcinoma of the bladder	Ikke registrert
Uterine leiomyosarcoma	Ikke registrert

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Cupped ear	Alltid
Hearing impairment	Alltid
Small ears	Alltid
Sensorineural hearing impairment	Svært 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	Noen ganger (5–29 %)
Mixed hearing impairment	Noen ganger (5–29 %)

Abnormality of the integument

Kjennetegn	Hvor ofte den forekommer
Darkened and thickened skin	Alltid
Loose redundant skin	Svært ofte (80–99 %)
Excessive wrinkled skin	Ofte (30–79 %)
Abnormal hair pattern	Noen ganger (5–29 %)
Hyperpigmented skin patches	Noen ganger (5–29 %)
Loss of hair color	Noen ganger (5–29 %)
Patchy loss of skin color	Noen ganger (5–29 %)
Skin tags	Noen ganger (5–29 %)
Atypical nail growth	Sjelden (1–4%)
Beauty mark	Ikke registrert
Numerous moles	Ikke registrert

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Breathing difficulties	Alltid
Neonatal respiratory distress	Alltid
Poorly developed lungs	Alltid
Absent/small lungs	Svært ofte (80–99 %)
Respiratory function loss	Svært ofte (80–99 %)
Central apnea	Ofte (30–79 %)
Low blood oxygen level	Noen ganger (5–29 %)
Respiratory failure	Noen ganger (5–29 %)
Stiff lung or chest wall causing decreased lung volume	Noen ganger (5–29 %)
Hypoplasia of the epiglottis	Sjelden (1–4%)
Upper airway obstruction	Ikke registrert

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Disproportionate short-limb short stature	Alltid
Severe short stature	Alltid
Tall stature	Alltid
Childhood onset short-limb short stature	Svært ofte (80–99 %)
Disproportionate short stature	Svært ofte (80–99 %)
Lethal short-limbed short stature	Svært ofte (80–99 %)
Short stature	Svært ofte (80–99 %)
Obesity	Noen ganger (5–29 %)
Neonatal short-limb short stature	Ikke registrert

Abnormality of prenatal development or birth

Kjennetegn	Hvor ofte den forekommer
1-minute APGAR score of 1	Alltid
5-minute APGAR score of 1	Alltid
Champagne cork sign	Alltid
Feet or buttocks of fetus positioned near opening of uterus	Alltid
High levels of amniotic fluid	Alltid
Premature rupture of membranes	Alltid
Choriocarcinoma	Ikke registrert
Less than 10 fetal movements in 12 hours	Ikke registrert

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Belly sticks out	Alltid
Feeding difficulties	Alltid
Acid reflux	Ofte (30–79 %)
Loss of bowel control	Noen ganger (5–29 %)
Poor swallowing	Sjelden (1–4%)
Colon cancer	Ikke registrert
Hereditary nonpolyposis colorectal carcinoma	Ikke registrert
Stomach tumor	Ikke registrert

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
Cardiac failure	Ofte (30–79 %)
Increased blood pressure in blood vessels of lungs	Ofte (30–79 %)
Abnormal cardiovascular system morphology	Noen ganger (5–29 %)
Abnormality of the heart	Noen ganger (5–29 %)
An opening in the wall separating the top two chambers of the heart	Noen ganger (5–29 %)
Patent ductus arteriosus	Noen ganger (5–29 %)

Abnormal tissue mass

Kjennetegn	Hvor ofte den forekommer
Abnormal tissue mass	Ikke registrert
Embryonal neoplasm	Ikke registrert

Abnormality of the immune system

Kjennetegn	Hvor ofte den forekommer
Brain abscess	Noen ganger (5–29 %)

Laboratory abnormality

Kjennetegn	Hvor ofte den forekommer
Elevated circulating alpha-fetoprotein concentration	Ikke registrert

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til FGFR3 og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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