Özellikler

FGFR3 ile ilişkili özellikler

fibroblast growth factor receptor 3

Human Phenotype Ontology, FGFR3 ile ilişkili 328 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

Abnormality of head or neck

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

Abnormality of limbs

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

Abnormality of the musculoskeletal system

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

Abnormality of the nervous system

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

Abnormality of the eye

Özellik	Ne sıklıkla görüldüğü
Absence of tears in the eyes	Her zaman
Bulging eye	Her zaman
Abnormality of the eye	Sık (%30–79)
Cross-eyed	Sık (%30–79)
Drooping upper eyelid	Sık (%30–79)
Increased tears	Sık (%30–79)
Inflammatory abnormality of the eye	Sık (%30–79)
Outward facing eye ball	Sık (%30–79)
Wide-set eyes	Sık (%30–79)
Abnormally close eyes	Bazen (%5–29)
Corneal ulceration	Bazen (%5–29)
Decreased corneal sensation	Bazen (%5–29)
Lazy eye	Bazen (%5–29)
Limbal stem cell deficiency	Bazen (%5–29)
New blood vessel formation in cornea	Bazen (%5–29)
Optic atrophy	Bazen (%5–29)
Recurrent breakdown of clear protective layer of eye	Bazen (%5–29)
Severe near sightedness	Bazen (%5–29)
Visual impairment	Bazen (%5–29)
Increased corneal thickness	Seyrek (%1–4)
Open angle glaucoma	Seyrek (%1–4)

Abnormality of the genitourinary system

Özellik	Ne sıklıkla görüldüğü
Uterine leiomyoma	Sık (%30–79)
Abnormality of the kidney	Bazen (%5–29)
Loss of bladder control	Bazen (%5–29)
Menstrual irregularity	Bazen (%5–29)
Undescended testes	Bazen (%5–29)
Heart shaped uterus	Seyrek (%1–4)
Hydronephrosis	Seyrek (%1–4)
Small kidneys	Seyrek (%1–4)
Vesicoureteral reflux	Seyrek (%1–4)
Absent sperm in semen	Kaydedilmedi
Bladder neoplasm	Kaydedilmedi
Cancer starting in small tubes in kidneys	Kaydedilmedi
Cervix cancer	Kaydedilmedi
Teratoma	Kaydedilmedi
Transitional cell carcinoma of the bladder	Kaydedilmedi
Uterine leiomyosarcoma	Kaydedilmedi

Abnormality of the ear

Özellik	Ne sıklıkla görüldüğü
Cupped ear	Her zaman
Hearing impairment	Her zaman
Small ears	Her zaman
Sensorineural hearing impairment	Çok sık (%80–99)
Abnormal antihelix morphology	Sık (%30–79)
Abnormally shaped ears	Sık (%30–79)
Conductive deafness	Sık (%30–79)
Functional abnormality of the middle ear	Sık (%30–79)
Narrow internal auditory canal	Sık (%30–79)
Prominent crus of helix	Sık (%30–79)
Recurrent middle ear infection	Sık (%30–79)
Low-set ears	Bazen (%5–29)
Mixed hearing impairment	Bazen (%5–29)

Abnormality of the integument

Özellik	Ne sıklıkla görüldüğü
Darkened and thickened skin	Her zaman
Loose redundant skin	Çok sık (%80–99)
Excessive wrinkled skin	Sık (%30–79)
Abnormal hair pattern	Bazen (%5–29)
Hyperpigmented skin patches	Bazen (%5–29)
Loss of hair color	Bazen (%5–29)
Patchy loss of skin color	Bazen (%5–29)
Skin tags	Bazen (%5–29)
Atypical nail growth	Seyrek (%1–4)
Beauty mark	Kaydedilmedi
Numerous moles	Kaydedilmedi

Abnormality of the respiratory system

Özellik	Ne sıklıkla görüldüğü
Breathing difficulties	Her zaman
Neonatal respiratory distress	Her zaman
Poorly developed lungs	Her zaman
Absent/small lungs	Çok sık (%80–99)
Respiratory function loss	Çok sık (%80–99)
Central apnea	Sık (%30–79)
Low blood oxygen level	Bazen (%5–29)
Respiratory failure	Bazen (%5–29)
Stiff lung or chest wall causing decreased lung volume	Bazen (%5–29)
Hypoplasia of the epiglottis	Seyrek (%1–4)
Upper airway obstruction	Kaydedilmedi

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Disproportionate short-limb short stature	Her zaman
Severe short stature	Her zaman
Tall stature	Her zaman
Childhood onset short-limb short stature	Çok sık (%80–99)
Disproportionate short stature	Çok sık (%80–99)
Lethal short-limbed short stature	Çok sık (%80–99)
Short stature	Çok sık (%80–99)
Obesity	Bazen (%5–29)
Neonatal short-limb short stature	Kaydedilmedi

Abnormality of prenatal development or birth

Özellik	Ne sıklıkla görüldüğü
1-minute APGAR score of 1	Her zaman
5-minute APGAR score of 1	Her zaman
Champagne cork sign	Her zaman
Feet or buttocks of fetus positioned near opening of uterus	Her zaman
High levels of amniotic fluid	Her zaman
Premature rupture of membranes	Her zaman
Choriocarcinoma	Kaydedilmedi
Less than 10 fetal movements in 12 hours	Kaydedilmedi

Abnormality of the digestive system

Özellik	Ne sıklıkla görüldüğü
Belly sticks out	Her zaman
Feeding difficulties	Her zaman
Acid reflux	Sık (%30–79)
Loss of bowel control	Bazen (%5–29)
Poor swallowing	Seyrek (%1–4)
Colon cancer	Kaydedilmedi
Hereditary nonpolyposis colorectal carcinoma	Kaydedilmedi
Stomach tumor	Kaydedilmedi

Abnormality of the cardiovascular system

Özellik	Ne sıklıkla görüldüğü
Cardiac failure	Sık (%30–79)
Increased blood pressure in blood vessels of lungs	Sık (%30–79)
Abnormal cardiovascular system morphology	Bazen (%5–29)
Abnormality of the heart	Bazen (%5–29)
An opening in the wall separating the top two chambers of the heart	Bazen (%5–29)
Patent ductus arteriosus	Bazen (%5–29)

Abnormal tissue mass

Özellik	Ne sıklıkla görüldüğü
Abnormal tissue mass	Kaydedilmedi
Embryonal neoplasm	Kaydedilmedi

Abnormality of the immune system

Özellik	Ne sıklıkla görüldüğü
Brain abscess	Bazen (%5–29)

Laboratory abnormality

Özellik	Ne sıklıkla görüldüğü
Elevated circulating alpha-fetoprotein concentration	Kaydedilmedi

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

Human Phenotype Ontology, 2026-09-01 sürümü: FGFR3 ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

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