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	Frequenza di osservazione
Absent lacrimal punctum	Sempre
Absent tear duct	Sempre
Big calvaria	Sempre
Cloverleaf cranium shape	Sempre
Cone shaped tooth	Sempre
Dental cavities	Sempre
Depressed nasal bridge	Sempre
Frontal bossing	Sempre
High palate	Sempre
Little foramen magnum	Sempre
Midface retrusion	Sempre
Narrowing of the rear opening of the nasal cavity	Sempre
Pink eye	Sempre
Prominent forehead	Sempre
Short neck	Sempre
Unopened tear duct	Sempre
Abnormal dentition	Molto spesso (80–99%)
Abnormality of the skull	Molto spesso (80–99%)
Aplasia/Hypoplasia of the mandible	Molto spesso (80–99%)
Broad forehead	Molto spesso (80–99%)
Broad head shape	Molto spesso (80–99%)
Coronal craniosynostosis	Molto spesso (80–99%)
Decreased size of tooth	Molto spesso (80–99%)
Deformity of the skull	Molto spesso (80–99%)
Facial asymmetry	Molto spesso (80–99%)
Failure of development of between one and six teeth	Molto spesso (80–99%)
Flat face	Molto spesso (80–99%)
High forehead	Molto spesso (80–99%)
Abnormal lacrimal duct morphology	Spesso (30–79%)
Abnormal lacrimal gland morphology	Spesso (30–79%)
Abnormal tooth enamel	Spesso (30–79%)
Abnormality of the midface	Spesso (30–79%)
Abnormality of the salivary glands	Spesso (30–79%)
Abnormally small head	Spesso (30–79%)
Asymmetry of the posterior head	Spesso (30–79%)
Beaked nose	Spesso (30–79%)
Blockage of the rear opening of the nasal cavity	Spesso (30–79%)
Decreased salivary flow	Spesso (30–79%)
Decreased size of maxilla	Spesso (30–79%)
Delayed cranial suture closure	Spesso (30–79%)
Downward slanting of the opening between the eyelids	Spesso (30–79%)
Dry eye syndrome	Spesso (30–79%)
Eyelid spasm	Spesso (30–79%)
Flattened bony protrusion above eyes	Spesso (30–79%)
High, narrow palate	Spesso (30–79%)
Increased nuchal translucency	Spesso (30–79%)
Low frontal hairline	Spesso (30–79%)
Narrow palate	Spesso (30–79%)
Narrowing of the tear duct	Spesso (30–79%)
Nasal tip, upturned	Spesso (30–79%)
Open bite	Spesso (30–79%)
Parietal bossing	Spesso (30–79%)
Prominent nasal bridge	Spesso (30–79%)
Short nasal bridge	Spesso (30–79%)
Tall shaped head	Spesso (30–79%)
Wider-than-typical soft spot of skull	Spesso (30–79%)
Zygomatic flattening	Spesso (30–79%)
Abnormal facial shape	A volte (5–29%)
Abnormality of the palate	A volte (5–29%)
Absent tear gland	A volte (5–29%)
Bifid uvula	A volte (5–29%)
Cleft palate	A volte (5–29%)
Encephalocele	A volte (5–29%)
Eye folds	A volte (5–29%)
Holes in parietal bones	A volte (5–29%)
Hypoplasia of the lacrimal punctum	A volte (5–29%)
Keratoconjunctivitis	A volte (5–29%)
Thin dental enamel	A volte (5–29%)
Cleft of the mouth	Raramente (1–4%)
Little lower jaw	Raramente (1–4%)
Lost smell	Raramente (1–4%)
Bad bite	Non registrato
Small face	Non registrato
Temporal bossing	Non registrato

Abnormality of limbs

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

Abnormality of the musculoskeletal system

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

Abnormality of the nervous system

Trait	Frequenza di osservazione
Global developmental delay	Sempre
Intellectual disability	Sempre
Too much cerebrospinal fluid in the brain	Sempre
Underdevelopment of part of brain called corpus callosum	Sempre
Brain degeneration	Molto spesso (80–99%)
Cognitive impairment	Molto spesso (80–99%)
Enlarged cerebellum	Molto spesso (80–99%)
Generalized-onset seizure	Molto spesso (80–99%)
Intellectual disability, severe	Molto spesso (80–99%)
IQ less than 20	Molto spesso (80–99%)
Severe global developmental delay	Molto spesso (80–99%)
Absent/small cerebellum	Spesso (30–79%)
Central sleep apnea	Spesso (30–79%)
Chiari malformation	Spesso (30–79%)
Epilepsy	Spesso (30–79%)
Focal impaired awareness seizure	Spesso (30–79%)
Obstructive sleep apnea	Spesso (30–79%)
Rise in pressure inside skull	Spesso (30–79%)
Temporal lobe dysplasia	Spesso (30–79%)
Ventriculomegaly	Spesso (30–79%)
Abnormality of neuronal migration	A volte (5–29%)
Attention deficit	A volte (5–29%)
Enlarged brain	A volte (5–29%)
Gray matter heterotopia	A volte (5–29%)
Headache	A volte (5–29%)
Holoprosencephaly	A volte (5–29%)
IQ between 34 and 49	A volte (5–29%)
Migraine	A volte (5–29%)
Pauses in breathing while sleeping	A volte (5–29%)
Small cerebellum	A volte (5–29%)
Brain stem compression	Non registrato
Motor delay	Non registrato

Abnormality of the eye

Trait	Frequenza di osservazione
Absence of tears in the eyes	Sempre
Bulging eye	Sempre
Abnormality of the eye	Spesso (30–79%)
Cross-eyed	Spesso (30–79%)
Drooping upper eyelid	Spesso (30–79%)
Increased tears	Spesso (30–79%)
Inflammatory abnormality of the eye	Spesso (30–79%)
Outward facing eye ball	Spesso (30–79%)
Wide-set eyes	Spesso (30–79%)
Abnormally close eyes	A volte (5–29%)
Corneal ulceration	A volte (5–29%)
Decreased corneal sensation	A volte (5–29%)
Lazy eye	A volte (5–29%)
Limbal stem cell deficiency	A volte (5–29%)
New blood vessel formation in cornea	A volte (5–29%)
Optic atrophy	A volte (5–29%)
Recurrent breakdown of clear protective layer of eye	A volte (5–29%)
Severe near sightedness	A volte (5–29%)
Visual impairment	A volte (5–29%)
Increased corneal thickness	Raramente (1–4%)
Open angle glaucoma	Raramente (1–4%)

Abnormality of the genitourinary system

Trait	Frequenza di osservazione
Uterine leiomyoma	Spesso (30–79%)
Abnormality of the kidney	A volte (5–29%)
Loss of bladder control	A volte (5–29%)
Menstrual irregularity	A volte (5–29%)
Undescended testes	A volte (5–29%)
Heart shaped uterus	Raramente (1–4%)
Hydronephrosis	Raramente (1–4%)
Small kidneys	Raramente (1–4%)
Vesicoureteral reflux	Raramente (1–4%)
Absent sperm in semen	Non registrato
Bladder neoplasm	Non registrato
Cancer starting in small tubes in kidneys	Non registrato
Cervix cancer	Non registrato
Teratoma	Non registrato
Transitional cell carcinoma of the bladder	Non registrato
Uterine leiomyosarcoma	Non registrato

Abnormality of the ear

Trait	Frequenza di osservazione
Cupped ear	Sempre
Hearing impairment	Sempre
Small ears	Sempre
Sensorineural hearing impairment	Molto spesso (80–99%)
Abnormal antihelix morphology	Spesso (30–79%)
Abnormally shaped ears	Spesso (30–79%)
Conductive deafness	Spesso (30–79%)
Functional abnormality of the middle ear	Spesso (30–79%)
Narrow internal auditory canal	Spesso (30–79%)
Prominent crus of helix	Spesso (30–79%)
Recurrent middle ear infection	Spesso (30–79%)
Low-set ears	A volte (5–29%)
Mixed hearing impairment	A volte (5–29%)

Abnormality of the integument

Trait	Frequenza di osservazione
Darkened and thickened skin	Sempre
Loose redundant skin	Molto spesso (80–99%)
Excessive wrinkled skin	Spesso (30–79%)
Abnormal hair pattern	A volte (5–29%)
Hyperpigmented skin patches	A volte (5–29%)
Loss of hair color	A volte (5–29%)
Patchy loss of skin color	A volte (5–29%)
Skin tags	A volte (5–29%)
Atypical nail growth	Raramente (1–4%)
Beauty mark	Non registrato
Numerous moles	Non registrato

Abnormality of the respiratory system

Trait	Frequenza di osservazione
Breathing difficulties	Sempre
Neonatal respiratory distress	Sempre
Poorly developed lungs	Sempre
Absent/small lungs	Molto spesso (80–99%)
Respiratory function loss	Molto spesso (80–99%)
Central apnea	Spesso (30–79%)
Low blood oxygen level	A volte (5–29%)
Respiratory failure	A volte (5–29%)
Stiff lung or chest wall causing decreased lung volume	A volte (5–29%)
Hypoplasia of the epiglottis	Raramente (1–4%)
Upper airway obstruction	Non registrato

Growth abnormality

Trait	Frequenza di osservazione
Disproportionate short-limb short stature	Sempre
Severe short stature	Sempre
Tall stature	Sempre
Childhood onset short-limb short stature	Molto spesso (80–99%)
Disproportionate short stature	Molto spesso (80–99%)
Lethal short-limbed short stature	Molto spesso (80–99%)
Short stature	Molto spesso (80–99%)
Obesity	A volte (5–29%)
Neonatal short-limb short stature	Non registrato

Abnormality of prenatal development or birth

Trait	Frequenza di osservazione
1-minute APGAR score of 1	Sempre
5-minute APGAR score of 1	Sempre
Champagne cork sign	Sempre
Feet or buttocks of fetus positioned near opening of uterus	Sempre
High levels of amniotic fluid	Sempre
Premature rupture of membranes	Sempre
Choriocarcinoma	Non registrato
Less than 10 fetal movements in 12 hours	Non registrato

Abnormality of the digestive system

Trait	Frequenza di osservazione
Belly sticks out	Sempre
Feeding difficulties	Sempre
Acid reflux	Spesso (30–79%)
Loss of bowel control	A volte (5–29%)
Poor swallowing	Raramente (1–4%)
Colon cancer	Non registrato
Hereditary nonpolyposis colorectal carcinoma	Non registrato
Stomach tumor	Non registrato

Abnormality of the cardiovascular system

Trait	Frequenza di osservazione
Cardiac failure	Spesso (30–79%)
Increased blood pressure in blood vessels of lungs	Spesso (30–79%)
Abnormal cardiovascular system morphology	A volte (5–29%)
Abnormality of the heart	A volte (5–29%)
An opening in the wall separating the top two chambers of the heart	A volte (5–29%)
Patent ductus arteriosus	A volte (5–29%)

Abnormal tissue mass

Trait	Frequenza di osservazione
Abnormal tissue mass	Non registrato
Embryonal neoplasm	Non registrato

Abnormality of the immune system

Trait	Frequenza di osservazione
Brain abscess	A volte (5–29%)

Laboratory abnormality

Trait	Frequenza di osservazione
Elevated circulating alpha-fetoprotein concentration	Non registrato

Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.

Fonte dei dati

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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