Tunnused

Geeniga FGFR3 seotud tunnused

fibroblast growth factor receptor 3

Inimese fenotüübi ontoloogia seostab geeniga FGFR3 328 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

FGFR3

Abnormality of head or neck

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

Abnormality of limbs

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

Abnormality of the musculoskeletal system

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

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Global developmental delay	Alati
Intellectual disability	Alati
Too much cerebrospinal fluid in the brain	Alati
Underdevelopment of part of brain called corpus callosum	Alati
Brain degeneration	Väga sageli (80–99%)
Cognitive impairment	Väga sageli (80–99%)
Enlarged cerebellum	Väga sageli (80–99%)
Generalized-onset seizure	Väga sageli (80–99%)
Intellectual disability, severe	Väga sageli (80–99%)
IQ less than 20	Väga sageli (80–99%)
Severe global developmental delay	Väga sageli (80–99%)
Absent/small cerebellum	Sageli (30–79%)
Central sleep apnea	Sageli (30–79%)
Chiari malformation	Sageli (30–79%)
Epilepsy	Sageli (30–79%)
Focal impaired awareness seizure	Sageli (30–79%)
Obstructive sleep apnea	Sageli (30–79%)
Rise in pressure inside skull	Sageli (30–79%)
Temporal lobe dysplasia	Sageli (30–79%)
Ventriculomegaly	Sageli (30–79%)
Abnormality of neuronal migration	Mõnikord (5–29%)
Attention deficit	Mõnikord (5–29%)
Enlarged brain	Mõnikord (5–29%)
Gray matter heterotopia	Mõnikord (5–29%)
Headache	Mõnikord (5–29%)
Holoprosencephaly	Mõnikord (5–29%)
IQ between 34 and 49	Mõnikord (5–29%)
Migraine	Mõnikord (5–29%)
Pauses in breathing while sleeping	Mõnikord (5–29%)
Small cerebellum	Mõnikord (5–29%)
Brain stem compression	Pole registreeritud
Motor delay	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Absence of tears in the eyes	Alati
Bulging eye	Alati
Abnormality of the eye	Sageli (30–79%)
Cross-eyed	Sageli (30–79%)
Drooping upper eyelid	Sageli (30–79%)
Increased tears	Sageli (30–79%)
Inflammatory abnormality of the eye	Sageli (30–79%)
Outward facing eye ball	Sageli (30–79%)
Wide-set eyes	Sageli (30–79%)
Abnormally close eyes	Mõnikord (5–29%)
Corneal ulceration	Mõnikord (5–29%)
Decreased corneal sensation	Mõnikord (5–29%)
Lazy eye	Mõnikord (5–29%)
Limbal stem cell deficiency	Mõnikord (5–29%)
New blood vessel formation in cornea	Mõnikord (5–29%)
Optic atrophy	Mõnikord (5–29%)
Recurrent breakdown of clear protective layer of eye	Mõnikord (5–29%)
Severe near sightedness	Mõnikord (5–29%)
Visual impairment	Mõnikord (5–29%)
Increased corneal thickness	Harva (1–4%)
Open angle glaucoma	Harva (1–4%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Uterine leiomyoma	Sageli (30–79%)
Abnormality of the kidney	Mõnikord (5–29%)
Loss of bladder control	Mõnikord (5–29%)
Menstrual irregularity	Mõnikord (5–29%)
Undescended testes	Mõnikord (5–29%)
Heart shaped uterus	Harva (1–4%)
Hydronephrosis	Harva (1–4%)
Small kidneys	Harva (1–4%)
Vesicoureteral reflux	Harva (1–4%)
Absent sperm in semen	Pole registreeritud
Bladder neoplasm	Pole registreeritud
Cancer starting in small tubes in kidneys	Pole registreeritud
Cervix cancer	Pole registreeritud
Teratoma	Pole registreeritud
Transitional cell carcinoma of the bladder	Pole registreeritud
Uterine leiomyosarcoma	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Cupped ear	Alati
Hearing impairment	Alati
Small ears	Alati
Sensorineural hearing impairment	Väga sageli (80–99%)
Abnormal antihelix morphology	Sageli (30–79%)
Abnormally shaped ears	Sageli (30–79%)
Conductive deafness	Sageli (30–79%)
Functional abnormality of the middle ear	Sageli (30–79%)
Narrow internal auditory canal	Sageli (30–79%)
Prominent crus of helix	Sageli (30–79%)
Recurrent middle ear infection	Sageli (30–79%)
Low-set ears	Mõnikord (5–29%)
Mixed hearing impairment	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Darkened and thickened skin	Alati
Loose redundant skin	Väga sageli (80–99%)
Excessive wrinkled skin	Sageli (30–79%)
Abnormal hair pattern	Mõnikord (5–29%)
Hyperpigmented skin patches	Mõnikord (5–29%)
Loss of hair color	Mõnikord (5–29%)
Patchy loss of skin color	Mõnikord (5–29%)
Skin tags	Mõnikord (5–29%)
Atypical nail growth	Harva (1–4%)
Beauty mark	Pole registreeritud
Numerous moles	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Breathing difficulties	Alati
Neonatal respiratory distress	Alati
Poorly developed lungs	Alati
Absent/small lungs	Väga sageli (80–99%)
Respiratory function loss	Väga sageli (80–99%)
Central apnea	Sageli (30–79%)
Low blood oxygen level	Mõnikord (5–29%)
Respiratory failure	Mõnikord (5–29%)
Stiff lung or chest wall causing decreased lung volume	Mõnikord (5–29%)
Hypoplasia of the epiglottis	Harva (1–4%)
Upper airway obstruction	Pole registreeritud

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Disproportionate short-limb short stature	Alati
Severe short stature	Alati
Tall stature	Alati
Childhood onset short-limb short stature	Väga sageli (80–99%)
Disproportionate short stature	Väga sageli (80–99%)
Lethal short-limbed short stature	Väga sageli (80–99%)
Short stature	Väga sageli (80–99%)
Obesity	Mõnikord (5–29%)
Neonatal short-limb short stature	Pole registreeritud

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
1-minute APGAR score of 1	Alati
5-minute APGAR score of 1	Alati
Champagne cork sign	Alati
Feet or buttocks of fetus positioned near opening of uterus	Alati
High levels of amniotic fluid	Alati
Premature rupture of membranes	Alati
Choriocarcinoma	Pole registreeritud
Less than 10 fetal movements in 12 hours	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Belly sticks out	Alati
Feeding difficulties	Alati
Acid reflux	Sageli (30–79%)
Loss of bowel control	Mõnikord (5–29%)
Poor swallowing	Harva (1–4%)
Colon cancer	Pole registreeritud
Hereditary nonpolyposis colorectal carcinoma	Pole registreeritud
Stomach tumor	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Cardiac failure	Sageli (30–79%)
Increased blood pressure in blood vessels of lungs	Sageli (30–79%)
Abnormal cardiovascular system morphology	Mõnikord (5–29%)
Abnormality of the heart	Mõnikord (5–29%)
An opening in the wall separating the top two chambers of the heart	Mõnikord (5–29%)
Patent ductus arteriosus	Mõnikord (5–29%)

Abnormal tissue mass

Tunnus	Kui sageli seda täheldatakse
Abnormal tissue mass	Pole registreeritud
Embryonal neoplasm	Pole registreeritud

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Brain abscess	Mõnikord (5–29%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Elevated circulating alpha-fetoprotein concentration	Pole registreeritud

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga FGFR3 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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