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	How often it is seen
Absent lacrimal punctum	Always
Absent tear duct	Always
Big calvaria	Always
Cloverleaf cranium shape	Always
Cone shaped tooth	Always
Dental cavities	Always
Depressed nasal bridge	Always
Frontal bossing	Always
High palate	Always
Little foramen magnum	Always
Midface retrusion	Always
Narrowing of the rear opening of the nasal cavity	Always
Pink eye	Always
Prominent forehead	Always
Short neck	Always
Unopened tear duct	Always
Abnormal dentition	Very often (80–99%)
Abnormality of the skull	Very often (80–99%)
Aplasia/Hypoplasia of the mandible	Very often (80–99%)
Broad forehead	Very often (80–99%)
Broad head shape	Very often (80–99%)
Coronal craniosynostosis	Very often (80–99%)
Decreased size of tooth	Very often (80–99%)
Deformity of the skull	Very often (80–99%)
Facial asymmetry	Very often (80–99%)
Failure of development of between one and six teeth	Very often (80–99%)
Flat face	Very often (80–99%)
High forehead	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 midface	Often (30–79%)
Abnormality of the salivary glands	Often (30–79%)
Abnormally small head	Often (30–79%)
Asymmetry of the posterior head	Often (30–79%)
Beaked nose	Often (30–79%)
Blockage of the rear opening of the nasal cavity	Often (30–79%)
Decreased salivary flow	Often (30–79%)
Decreased size of maxilla	Often (30–79%)
Delayed cranial suture closure	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Dry eye syndrome	Often (30–79%)
Eyelid spasm	Often (30–79%)
Flattened bony protrusion above eyes	Often (30–79%)
High, narrow palate	Often (30–79%)
Increased nuchal translucency	Often (30–79%)
Low frontal hairline	Often (30–79%)
Narrow palate	Often (30–79%)
Narrowing of the tear duct	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Open bite	Often (30–79%)
Parietal bossing	Often (30–79%)
Prominent nasal bridge	Often (30–79%)
Short nasal bridge	Often (30–79%)
Tall shaped head	Often (30–79%)
Wider-than-typical soft spot of skull	Often (30–79%)
Zygomatic flattening	Often (30–79%)
Abnormal facial shape	Sometimes (5–29%)
Abnormality of the palate	Sometimes (5–29%)
Absent tear gland	Sometimes (5–29%)
Bifid uvula	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Encephalocele	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%)
Cleft of the mouth	Rarely (1–4%)
Little lower jaw	Rarely (1–4%)
Lost smell	Rarely (1–4%)
Bad bite	Not recorded
Small face	Not recorded
Temporal bossing	Not recorded

Abnormality of limbs

Trait	How often it is seen
Bowed legs	Always
Bowed thighbone	Always
Bowing of outer large bone of the forearm	Always
Curving of inner forearm bone	Always
Disproportionately short upper portion of limb	Always
Duplication of thumb phalanx	Always
Flared wide portion of long bone	Always
Long slender fingers	Always
Short thighbone	Always
Smaller or shorter than typical limbs	Always
Trident hand	Always
Abnormality of lower limb joint	Very often (80–99%)
Abnormality of the wide portion of a long bone	Very often (80–99%)
Bowing of the long bones	Very often (80–99%)
Curvature of little finger	Very often (80–99%)
Finger syndactyly	Very often (80–99%)
Limb undergrowth	Very often (80–99%)
Metaphyseal chondrodysplasia	Very often (80–99%)
Permanent flexion of the finger	Very often (80–99%)
Short fingers or toes	Very often (80–99%)
Short toe	Very often (80–99%)
Split hand	Very often (80–99%)
Abnormal shape of long bones of hand	Often (30–79%)
Abnormality of fingers or toes	Often (30–79%)
Abnormality of the elbow	Often (30–79%)
Abnormality of the thighbone	Often (30–79%)
Bilateral single transverse palmar creases	Often (30–79%)
Bowed calf bone	Often (30–79%)
Bowed shankbone	Often (30–79%)
Broad big toe	Often (30–79%)
Broad thumb	Often (30–79%)
Cone-shaped end part of finger bones	Often (30–79%)
Fused ankle bones	Often (30–79%)
Fused wrist bones	Often (30–79%)
Hip joint hypermobility	Often (30–79%)
Knee joint over-flexibility	Often (30–79%)
Limited elbow extension	Often (30–79%)
Outward bow-leggedness	Often (30–79%)
Short foot	Often (30–79%)
Short middle bone of finger	Often (30–79%)
Short neck of thighbone	Often (30–79%)
Short palm	Often (30–79%)
Short proximal phalanx of finger	Often (30–79%)
Thimble-shaped middle bones of hand	Often (30–79%)
Abnormality of the thumb	Sometimes (5–29%)
Absent thumb	Sometimes (5–29%)
Broad toe	Sometimes (5–29%)
Bunion	Sometimes (5–29%)
Curvature of digit	Sometimes (5–29%)
Disproportionately short middle portion of limb	Sometimes (5–29%)
Duplication of the outermost bone of big toe	Sometimes (5–29%)
Excessive wrinkled skin of palms and soles	Sometimes (5–29%)
Finger-like thumb	Sometimes (5–29%)
Flat acetabular roof	Sometimes (5–29%)
Fused forearm bones	Sometimes (5–29%)
Fused long bones of hand	Sometimes (5–29%)
Fused toes	Sometimes (5–29%)
Proximal radio-ulnar synostosis	Sometimes (5–29%)
Short thumb	Sometimes (5–29%)
Underdeveloped outer large forearm bone	Sometimes (5–29%)
Webbed fingers or toes	Sometimes (5–29%)
Absent/small extremities	Not recorded
Broad wide portion of thigh bone	Not recorded
Camptodactyly of toe	Not recorded
Capitate-hamate fusion	Not recorded
Irregular wide portion of a long bone	Not recorded
Radial deviation of finger	Not recorded
Short middle bones (feet)	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Flattened vertebrae	Always
Hypoplastic pelvis	Always
Narrow chest	Always
Narrow greater sciatic notch	Always
Narrow vertebral interpedicular distance	Always
Scoliosis	Always
Severe platyspondyly	Always
Short long bone	Always
Short ribs	Always
Small chest	Always
Widened interpedicular distance	Always
Abnormal sacroiliac joint morphology	Very often (80–99%)
Abnormal skeletal development	Very often (80–99%)
Abnormal vertebral body morphology	Very often (80–99%)
Double-Jointed	Very often (80–99%)
Hunched back	Very often (80–99%)
Low muscle tone	Very often (80–99%)
Permanent flexion of the finger or toe	Very often (80–99%)
Short greater sciatic notch	Very often (80–99%)
Shorter than typical length between neck and abdomen	Very often (80–99%)
Small wings of the pelvic girdle	Very often (80–99%)
Thoracolumbar kyphosis	Very often (80–99%)
Abnormal collarbone	Often (30–79%)
Abnormal shape of pelvic girdle bone	Often (30–79%)
Cervical spinal canal stenosis	Often (30–79%)
Cone-shaped end part of bone	Often (30–79%)
Decreased muscle tone in infant	Often (30–79%)
Excessive inward curvature of lower spine	Often (30–79%)
Formation of new noncancerous bone on top of existing bone	Often (30–79%)
Narrow spinal canal	Often (30–79%)
Prominent swayback	Often (30–79%)
Abnormal iliac wing morphology	Sometimes (5–29%)
Abnormal sacrum morphology	Sometimes (5–29%)
Degenerative joint disease	Sometimes (5–29%)
Joint stiffness	Sometimes (5–29%)
Limitation of joint mobility	Sometimes (5–29%)
Arthritis	Rarely (1–4%)
Craniocervical junction constriction	Not recorded
Funnel chest	Not recorded
Hunched back in infancy	Not recorded
Hypermobility of all joints	Not recorded
Increased vertebral height	Not recorded
Limited hip extension	Not recorded
Osteochondroma	Not recorded
Small abnormally formed shoulder blade	Not recorded
Spinal stenosis with reduced interpedicular distance	Not recorded
Wide-cupped costochondral junctions	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Intellectual disability	Always
Too much cerebrospinal fluid in the brain	Always
Underdevelopment of part of brain called corpus callosum	Always
Brain degeneration	Very often (80–99%)
Cognitive impairment	Very often (80–99%)
Enlarged cerebellum	Very often (80–99%)
Generalized-onset seizure	Very often (80–99%)
Intellectual disability, severe	Very often (80–99%)
IQ less than 20	Very often (80–99%)
Severe global developmental delay	Very often (80–99%)
Absent/small cerebellum	Often (30–79%)
Central sleep apnea	Often (30–79%)
Chiari malformation	Often (30–79%)
Epilepsy	Often (30–79%)
Focal impaired awareness seizure	Often (30–79%)
Obstructive sleep apnea	Often (30–79%)
Rise in pressure inside skull	Often (30–79%)
Temporal lobe dysplasia	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Abnormality of neuronal migration	Sometimes (5–29%)
Attention deficit	Sometimes (5–29%)
Enlarged brain	Sometimes (5–29%)
Gray matter heterotopia	Sometimes (5–29%)
Headache	Sometimes (5–29%)
Holoprosencephaly	Sometimes (5–29%)
IQ between 34 and 49	Sometimes (5–29%)
Migraine	Sometimes (5–29%)
Pauses in breathing while sleeping	Sometimes (5–29%)
Small cerebellum	Sometimes (5–29%)
Brain stem compression	Not recorded
Motor delay	Not recorded

Abnormality of the eye

Trait	How often it is seen
Absence of tears in the eyes	Always
Bulging eye	Always
Abnormality of the eye	Often (30–79%)
Cross-eyed	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Increased tears	Often (30–79%)
Inflammatory abnormality of the eye	Often (30–79%)
Outward facing eye ball	Often (30–79%)
Wide-set eyes	Often (30–79%)
Abnormally close eyes	Sometimes (5–29%)
Corneal ulceration	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%)
Optic atrophy	Sometimes (5–29%)
Recurrent breakdown of clear protective layer of eye	Sometimes (5–29%)
Severe near sightedness	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)
Increased corneal thickness	Rarely (1–4%)
Open angle glaucoma	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Uterine leiomyoma	Often (30–79%)
Abnormality of the kidney	Sometimes (5–29%)
Loss of bladder control	Sometimes (5–29%)
Menstrual irregularity	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)
Heart shaped uterus	Rarely (1–4%)
Hydronephrosis	Rarely (1–4%)
Small kidneys	Rarely (1–4%)
Vesicoureteral reflux	Rarely (1–4%)
Absent sperm in semen	Not recorded
Bladder neoplasm	Not recorded
Cancer starting in small tubes in kidneys	Not recorded
Cervix cancer	Not recorded
Teratoma	Not recorded
Transitional cell carcinoma of the bladder	Not recorded
Uterine leiomyosarcoma	Not recorded

Abnormality of the ear

Trait	How often it is seen
Cupped ear	Always
Hearing impairment	Always
Small ears	Always
Sensorineural hearing impairment	Very often (80–99%)
Abnormal antihelix morphology	Often (30–79%)
Abnormally shaped ears	Often (30–79%)
Conductive deafness	Often (30–79%)
Functional abnormality of the middle ear	Often (30–79%)
Narrow internal auditory canal	Often (30–79%)
Prominent crus of helix	Often (30–79%)
Recurrent middle ear infection	Often (30–79%)
Low-set ears	Sometimes (5–29%)
Mixed hearing impairment	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Darkened and thickened skin	Always
Loose redundant skin	Very often (80–99%)
Excessive wrinkled skin	Often (30–79%)
Abnormal hair pattern	Sometimes (5–29%)
Hyperpigmented skin patches	Sometimes (5–29%)
Loss of hair color	Sometimes (5–29%)
Patchy loss of skin color	Sometimes (5–29%)
Skin tags	Sometimes (5–29%)
Atypical nail growth	Rarely (1–4%)
Beauty mark	Not recorded
Numerous moles	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Always
Neonatal respiratory distress	Always
Poorly developed lungs	Always
Absent/small lungs	Very often (80–99%)
Respiratory function loss	Very often (80–99%)
Central apnea	Often (30–79%)
Low blood oxygen level	Sometimes (5–29%)
Respiratory failure	Sometimes (5–29%)
Stiff lung or chest wall causing decreased lung volume	Sometimes (5–29%)
Hypoplasia of the epiglottis	Rarely (1–4%)
Upper airway obstruction	Not recorded

Growth abnormality

Trait	How often it is seen
Disproportionate short-limb short stature	Always
Severe short stature	Always
Tall stature	Always
Childhood onset short-limb short stature	Very often (80–99%)
Disproportionate short stature	Very often (80–99%)
Lethal short-limbed short stature	Very often (80–99%)
Short stature	Very often (80–99%)
Obesity	Sometimes (5–29%)
Neonatal short-limb short stature	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
1-minute APGAR score of 1	Always
5-minute APGAR score of 1	Always
Champagne cork sign	Always
Feet or buttocks of fetus positioned near opening of uterus	Always
High levels of amniotic fluid	Always
Premature rupture of membranes	Always
Choriocarcinoma	Not recorded
Less than 10 fetal movements in 12 hours	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Belly sticks out	Always
Feeding difficulties	Always
Acid reflux	Often (30–79%)
Loss of bowel control	Sometimes (5–29%)
Poor swallowing	Rarely (1–4%)
Colon cancer	Not recorded
Hereditary nonpolyposis colorectal carcinoma	Not recorded
Stomach tumor	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Cardiac failure	Often (30–79%)
Increased blood pressure in blood vessels of lungs	Often (30–79%)
Abnormal cardiovascular system morphology	Sometimes (5–29%)
Abnormality of the heart	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Not recorded
Embryonal neoplasm	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Brain abscess	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated circulating alpha-fetoprotein concentration	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 FGFR3 and how often each is seen. Find out more at hpo.jax.org.

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