Traits

Traits linked to FGF8

fibroblast growth factor 8

The Human Phenotype Ontology links 180 traits to FGF8, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Abnormal central motor function	Dažnai (30–79%)
Abnormal corpus callosum morphology	Dažnai (30–79%)
Abnormal morphology of the olfactory bulb	Dažnai (30–79%)
Abnormal shape of brainstem	Dažnai (30–79%)
Abnormal shape of midbrain	Dažnai (30–79%)
Abnormality of the autonomic nervous system	Dažnai (30–79%)
Absent speech development	Dažnai (30–79%)
Anxiety	Dažnai (30–79%)
Aplasia of the falx cerebri	Dažnai (30–79%)
Attention deficit	Dažnai (30–79%)
Behavioral abnormality	Dažnai (30–79%)
Communication delay	Dažnai (30–79%)
Depression	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Impulsivity	Dažnai (30–79%)
Inability to walk	Dažnai (30–79%)
Intellectual disability	Dažnai (30–79%)
Irritability	Dažnai (30–79%)
Lack of feeling, emotion, interest	Dažnai (30–79%)
Lethargy	Dažnai (30–79%)
Limb dystonia	Dažnai (30–79%)
Neural tube defect	Dažnai (30–79%)
Oromotor apraxia	Dažnai (30–79%)
Poor speech	Dažnai (30–79%)
Short attention span	Dažnai (30–79%)
Sleep-wake cycle disturbance	Dažnai (30–79%)
Specific learning disability	Dažnai (30–79%)
Abnormal gait	Kartais (5–29%)
Abnormal septum pellucidum morphology	Kartais (5–29%)
Agenesis of corpus callosum	Kartais (5–29%)
Ataxia	Kartais (5–29%)
Difficulty articulating speech	Kartais (5–29%)
Enlarged brain	Kartais (5–29%)
Hand mirror movements	Kartais (5–29%)
Holoprosencephaly	Kartais (5–29%)
Hypoplasia of the pons	Kartais (5–29%)
Leg paralysis	Kartais (5–29%)
Perisylvian polymicrogyria	Kartais (5–29%)
Rhombencephalosynapsis	Kartais (5–29%)
Too much cerebrospinal fluid in the brain	Kartais (5–29%)
Tremor	Kartais (5–29%)

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Blockage of the rear opening of the nasal cavity	Labai dažnai (80–99%)
Hyposmia	Labai dažnai (80–99%)
Lost smell	Labai dažnai (80–99%)
Midnasal stenosis	Labai dažnai (80–99%)
Only one upper front tooth	Labai dažnai (80–99%)
Abnormally small head	Dažnai (30–79%)
Bifid uvula	Dažnai (30–79%)
Central cleft upper lip	Dažnai (30–79%)
Cleft palate	Dažnai (30–79%)
Flat nose	Dažnai (30–79%)
High palate	Dažnai (30–79%)
Narrow nasal bridge	Dažnai (30–79%)
Short philtrum	Dažnai (30–79%)
Tented mouth	Dažnai (30–79%)
Abnormal dentition	Kartais (5–29%)
Big calvaria	Kartais (5–29%)
Cleft lip	Kartais (5–29%)
Cleft of the mouth	Kartais (5–29%)
Decreased number of teeth	Kartais (5–29%)
Depressed nasal bridge	Kartais (5–29%)
Frontoethmoidal encephalocele	Kartais (5–29%)
Mono nostril	Kartais (5–29%)
Nasal tip, upturned	Kartais (5–29%)
Proboscis	Kartais (5–29%)
Short nose	Kartais (5–29%)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Decreased testicular size	Visada
Primary amenorrhea	Visada
Short penis	Visada
Abnormal erection	Labai dažnai (80–99%)
Absent sperm in semen	Labai dažnai (80–99%)
Decreased fertility	Labai dažnai (80–99%)
Difficulty getting a full erection	Labai dažnai (80–99%)
Increased female sex drive	Labai dažnai (80–99%)
Non-obstructive azoospermia	Labai dažnai (80–99%)
Underdeveloped penis	Labai dažnai (80–99%)
Undescended testes	Labai dažnai (80–99%)
Previous menstrual periods stop	Dažnai (30–79%)
Small uterus	Dažnai (30–79%)
Underdeveloped ovary	Dažnai (30–79%)
Abnormal morphology of female internal genitalia	Kartais (5–29%)
Abnormality of the genitourinary system	Kartais (5–29%)
Absent kidney	Kartais (5–29%)
Ambiguous external genitalia	Kartais (5–29%)
Dyspareunia	Kartais (5–29%)
Infertility	Kartais (5–29%)

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Delayed bone maturation	Labai dažnai (80–99%)
Abnormal vertebral morphology	Dažnai (30–79%)
Abnormality of the ribs	Dažnai (30–79%)
Decreased muscle tone in infant	Dažnai (30–79%)
Generalized decreased muscle tone	Dažnai (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Dažnai (30–79%)
Low solidness and mass of the bones	Dažnai (30–79%)
Osteopenia	Dažnai (30–79%)
Osteoporosis	Dažnai (30–79%)
Abnormal skeletal development	Kartais (5–29%)
Abnormality of the skeletal system	Kartais (5–29%)
EMG: myopathic abnormalities	Kartais (5–29%)
Flexed joint that cannot be straightened	Kartais (5–29%)
Hypermobility of all joints	Kartais (5–29%)
Low muscle tone	Kartais (5–29%)
Low muscle tone in trunk	Kartais (5–29%)
Muscle weakness	Kartais (5–29%)
Permanent flexion of the finger or toe	Kartais (5–29%)
Recurrent fractures	Kartais (5–29%)
Scoliosis	Kartais (5–29%)

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Hypogonadotropic hypogonadism	Visada
Absence of pubertal development	Labai dažnai (80–99%)
Absence of secondary sex characteristics	Labai dažnai (80–99%)
Anterior hypopituitarism	Labai dažnai (80–99%)
Decreased function of male gonad	Labai dažnai (80–99%)
Decreased serum testosterone level	Labai dažnai (80–99%)
Delayed puberty	Labai dažnai (80–99%)
Female hypogonadism	Labai dažnai (80–99%)
Gonadotropin-releasing hormone deficiency	Labai dažnai (80–99%)
Abnormal hypothalamus physiology	Dažnai (30–79%)
Abnormality of the endocrine system	Dažnai (30–79%)
Central diabetes insipidus	Dažnai (30–79%)
Diabetes insipidus	Dažnai (30–79%)
Early onset of puberty	Dažnai (30–79%)
Central hypothyroidism	Kartais (5–29%)
Decreased response to growth hormone stimulation test	Kartais (5–29%)
Panhypopituitarism	Kartais (5–29%)
Underactive thyroid	Kartais (5–29%)
Small pituitary gland	Neužfiksuota

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Abnormality of the eye	Labai dažnai (80–99%)
Abnormally close eyes	Labai dažnai (80–99%)
Cerebral visual impairment	Dažnai (30–79%)
Abnormal color vision	Kartais (5–29%)
Cat eye	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Cyclops eye	Kartais (5–29%)
Drooping upper eyelid	Kartais (5–29%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)
Visual impairment	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Feeding difficulties	Labai dažnai (80–99%)
Poor suck	Labai dažnai (80–99%)
Acid reflux	Dažnai (30–79%)
Constipation	Dažnai (30–79%)
Poor swallowing	Dažnai (30–79%)
Vomiting	Dažnai (30–79%)
Abnormal shape of the digestive system	Kartais (5–29%)
Absence or narrowing of first part of small bowel	Kartais (5–29%)
Anteriorly placed anus	Kartais (5–29%)
Gastrostomy tube feeding in infancy	Kartais (5–29%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Eunuchoid habitus	Labai dažnai (80–99%)
Faltering weight	Labai dažnai (80–99%)
Growth delay	Labai dažnai (80–99%)
Short stature	Labai dažnai (80–99%)
Abnormality of body height	Dažnai (30–79%)
Prenatal growth deficiency	Dažnai (30–79%)
Obesity	Kartais (5–29%)

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Abnormal cardiovascular system morphology	Kartais (5–29%)
Abnormal heart rate variability	Kartais (5–29%)
Abnormality of the heart	Kartais (5–29%)
Narrowing of aorta	Kartais (5–29%)
Strawberry mark	Kartais (5–29%)
Tetralogy of Fallot	Kartais (5–29%)

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Abnormality of limbs	Kartais (5–29%)
Dropped arches	Kartais (5–29%)
High-arched foot	Kartais (5–29%)
Hip dislocation	Kartais (5–29%)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Limited armpit hair	Visada
Sparse pubic hair	Visada
Sparse body hair	Labai dažnai (80–99%)
Ichthyosis	Kartais (5–29%)

Abnormality of the breast

Trait	Kaip dažnai pasireiškia
Underdeveloped breasts	Labai dažnai (80–99%)
Wide-spaced nipples	Labai dažnai (80–99%)
Enlarged male breast	Dažnai (30–79%)

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Abnormal pattern of respiration	Dažnai (30–79%)
Central apnea	Dažnai (30–79%)
Chronic lung disease	Dažnai (30–79%)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Sensorineural hearing impairment	Dažnai (30–79%)
Congenital sensorineural hearing impairment	Kartais (5–29%)

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Aspiration pneumonia	Dažnai (30–79%)
Asthma	Kartais (5–29%)

Abnormality of prenatal development or birth

Trait	Kaip dažnai pasireiškia
Premature birth	Dažnai (30–79%)

Abnormality of the voice

Trait	Kaip dažnai pasireiškia
Abnormality of the voice	Labai dažnai (80–99%)

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Temperature instability	Dažnai (30–79%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

The Human Phenotype Ontology, release 2026-09-01: the traits linked to FGF8 and how often each is seen. Find out more at hpo.jax.org.

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