특성

FGFR3 연관 특성

fibroblast growth factor receptor 3

인간 표현형 온톨로지가 FGFR3에 연결하는 특성은 328개이며, 신체 계통별로 나뉩니다. 이 특성들은 이 유전자의 희귀 질환 중 하나를 가진 사람들에게서 관찰되는 특징입니다.

Abnormality of head or neck

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

Abnormality of limbs

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

Abnormality of the musculoskeletal system

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

Abnormality of the nervous system

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

Abnormality of the eye

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

Abnormality of the genitourinary system

특성	나타나는 빈도
Uterine leiomyoma	자주 (30–79%)
Abnormality of the kidney	가끔 (5–29%)
Loss of bladder control	가끔 (5–29%)
Menstrual irregularity	가끔 (5–29%)
Undescended testes	가끔 (5–29%)
Heart shaped uterus	드물게 (1–4%)
Hydronephrosis	드물게 (1–4%)
Small kidneys	드물게 (1–4%)
Vesicoureteral reflux	드물게 (1–4%)
Absent sperm in semen	기록되지 않음
Bladder neoplasm	기록되지 않음
Cancer starting in small tubes in kidneys	기록되지 않음
Cervix cancer	기록되지 않음
Teratoma	기록되지 않음
Transitional cell carcinoma of the bladder	기록되지 않음
Uterine leiomyosarcoma	기록되지 않음

Abnormality of the ear

특성	나타나는 빈도
Cupped ear	항상
Hearing impairment	항상
Small ears	항상
Sensorineural hearing impairment	매우 자주 (80–99%)
Abnormal antihelix morphology	자주 (30–79%)
Abnormally shaped ears	자주 (30–79%)
Conductive deafness	자주 (30–79%)
Functional abnormality of the middle ear	자주 (30–79%)
Narrow internal auditory canal	자주 (30–79%)
Prominent crus of helix	자주 (30–79%)
Recurrent middle ear infection	자주 (30–79%)
Low-set ears	가끔 (5–29%)
Mixed hearing impairment	가끔 (5–29%)

Abnormality of the integument

특성	나타나는 빈도
Darkened and thickened skin	항상
Loose redundant skin	매우 자주 (80–99%)
Excessive wrinkled skin	자주 (30–79%)
Abnormal hair pattern	가끔 (5–29%)
Hyperpigmented skin patches	가끔 (5–29%)
Loss of hair color	가끔 (5–29%)
Patchy loss of skin color	가끔 (5–29%)
Skin tags	가끔 (5–29%)
Atypical nail growth	드물게 (1–4%)
Beauty mark	기록되지 않음
Numerous moles	기록되지 않음

Abnormality of the respiratory system

특성	나타나는 빈도
Breathing difficulties	항상
Neonatal respiratory distress	항상
Poorly developed lungs	항상
Absent/small lungs	매우 자주 (80–99%)
Respiratory function loss	매우 자주 (80–99%)
Central apnea	자주 (30–79%)
Low blood oxygen level	가끔 (5–29%)
Respiratory failure	가끔 (5–29%)
Stiff lung or chest wall causing decreased lung volume	가끔 (5–29%)
Hypoplasia of the epiglottis	드물게 (1–4%)
Upper airway obstruction	기록되지 않음

Growth abnormality

특성	나타나는 빈도
Disproportionate short-limb short stature	항상
Severe short stature	항상
Tall stature	항상
Childhood onset short-limb short stature	매우 자주 (80–99%)
Disproportionate short stature	매우 자주 (80–99%)
Lethal short-limbed short stature	매우 자주 (80–99%)
Short stature	매우 자주 (80–99%)
Obesity	가끔 (5–29%)
Neonatal short-limb short stature	기록되지 않음

Abnormality of prenatal development or birth

특성	나타나는 빈도
1-minute APGAR score of 1	항상
5-minute APGAR score of 1	항상
Champagne cork sign	항상
Feet or buttocks of fetus positioned near opening of uterus	항상
High levels of amniotic fluid	항상
Premature rupture of membranes	항상
Choriocarcinoma	기록되지 않음
Less than 10 fetal movements in 12 hours	기록되지 않음

Abnormality of the digestive system

특성	나타나는 빈도
Belly sticks out	항상
Feeding difficulties	항상
Acid reflux	자주 (30–79%)
Loss of bowel control	가끔 (5–29%)
Poor swallowing	드물게 (1–4%)
Colon cancer	기록되지 않음
Hereditary nonpolyposis colorectal carcinoma	기록되지 않음
Stomach tumor	기록되지 않음

Abnormality of the cardiovascular system

특성	나타나는 빈도
Cardiac failure	자주 (30–79%)
Increased blood pressure in blood vessels of lungs	자주 (30–79%)
Abnormal cardiovascular system morphology	가끔 (5–29%)
Abnormality of the heart	가끔 (5–29%)
An opening in the wall separating the top two chambers of the heart	가끔 (5–29%)
Patent ductus arteriosus	가끔 (5–29%)

Abnormal tissue mass

특성	나타나는 빈도
Abnormal tissue mass	기록되지 않음
Embryonal neoplasm	기록되지 않음

Abnormality of the immune system

특성	나타나는 빈도
Brain abscess	가끔 (5–29%)

Laboratory abnormality

특성	나타나는 빈도
Elevated circulating alpha-fetoprotein concentration	기록되지 않음

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

인간 표현형 온톨로지 릴리스 2026-09-01: FGFR3에 연결된 특성과 각 특성이 관찰되는 빈도입니다. 자세한 내용은 hpo.jax.org에서 확인해 주세요.

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