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

Abnormality of head or neck

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

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Decreased testicular size	Întotdeauna
Primary amenorrhea	Întotdeauna
Short penis	Întotdeauna
Abnormal erection	Foarte des (80–99%)
Absent sperm in semen	Foarte des (80–99%)
Decreased fertility	Foarte des (80–99%)
Difficulty getting a full erection	Foarte des (80–99%)
Increased female sex drive	Foarte des (80–99%)
Non-obstructive azoospermia	Foarte des (80–99%)
Underdeveloped penis	Foarte des (80–99%)
Undescended testes	Foarte des (80–99%)
Previous menstrual periods stop	Des (30–79%)
Small uterus	Des (30–79%)
Underdeveloped ovary	Des (30–79%)
Abnormal morphology of female internal genitalia	Uneori (5–29%)
Abnormality of the genitourinary system	Uneori (5–29%)
Absent kidney	Uneori (5–29%)
Ambiguous external genitalia	Uneori (5–29%)
Dyspareunia	Uneori (5–29%)
Infertility	Uneori (5–29%)

Abnormality of the musculoskeletal system

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

Abnormality of the endocrine system

Trait	Cât de frecvent apare
Hypogonadotropic hypogonadism	Întotdeauna
Absence of pubertal development	Foarte des (80–99%)
Absence of secondary sex characteristics	Foarte des (80–99%)
Anterior hypopituitarism	Foarte des (80–99%)
Decreased function of male gonad	Foarte des (80–99%)
Decreased serum testosterone level	Foarte des (80–99%)
Delayed puberty	Foarte des (80–99%)
Female hypogonadism	Foarte des (80–99%)
Gonadotropin-releasing hormone deficiency	Foarte des (80–99%)
Abnormal hypothalamus physiology	Des (30–79%)
Abnormality of the endocrine system	Des (30–79%)
Central diabetes insipidus	Des (30–79%)
Diabetes insipidus	Des (30–79%)
Early onset of puberty	Des (30–79%)
Central hypothyroidism	Uneori (5–29%)
Decreased response to growth hormone stimulation test	Uneori (5–29%)
Panhypopituitarism	Uneori (5–29%)
Underactive thyroid	Uneori (5–29%)
Small pituitary gland	Neînregistrat

Abnormality of the eye

Trait	Cât de frecvent apare
Abnormality of the eye	Foarte des (80–99%)
Abnormally close eyes	Foarte des (80–99%)
Cerebral visual impairment	Des (30–79%)
Abnormal color vision	Uneori (5–29%)
Cat eye	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Cyclops eye	Uneori (5–29%)
Drooping upper eyelid	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Visual impairment	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Feeding difficulties	Foarte des (80–99%)
Poor suck	Foarte des (80–99%)
Acid reflux	Des (30–79%)
Constipation	Des (30–79%)
Poor swallowing	Des (30–79%)
Vomiting	Des (30–79%)
Abnormal shape of the digestive system	Uneori (5–29%)
Absence or narrowing of first part of small bowel	Uneori (5–29%)
Anteriorly placed anus	Uneori (5–29%)
Gastrostomy tube feeding in infancy	Uneori (5–29%)

Growth abnormality

Trait	Cât de frecvent apare
Eunuchoid habitus	Foarte des (80–99%)
Faltering weight	Foarte des (80–99%)
Growth delay	Foarte des (80–99%)
Short stature	Foarte des (80–99%)
Abnormality of body height	Des (30–79%)
Prenatal growth deficiency	Des (30–79%)
Obesity	Uneori (5–29%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Abnormal cardiovascular system morphology	Uneori (5–29%)
Abnormal heart rate variability	Uneori (5–29%)
Abnormality of the heart	Uneori (5–29%)
Narrowing of aorta	Uneori (5–29%)
Strawberry mark	Uneori (5–29%)
Tetralogy of Fallot	Uneori (5–29%)

Abnormality of limbs

Trait	Cât de frecvent apare
Abnormality of limbs	Uneori (5–29%)
Dropped arches	Uneori (5–29%)
High-arched foot	Uneori (5–29%)
Hip dislocation	Uneori (5–29%)

Abnormality of the integument

Trait	Cât de frecvent apare
Limited armpit hair	Întotdeauna
Sparse pubic hair	Întotdeauna
Sparse body hair	Foarte des (80–99%)
Ichthyosis	Uneori (5–29%)

Abnormality of the breast

Trait	Cât de frecvent apare
Underdeveloped breasts	Foarte des (80–99%)
Wide-spaced nipples	Foarte des (80–99%)
Enlarged male breast	Des (30–79%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Abnormal pattern of respiration	Des (30–79%)
Central apnea	Des (30–79%)
Chronic lung disease	Des (30–79%)

Abnormality of the ear

Trait	Cât de frecvent apare
Sensorineural hearing impairment	Des (30–79%)
Congenital sensorineural hearing impairment	Uneori (5–29%)

Abnormality of the immune system

Trait	Cât de frecvent apare
Aspiration pneumonia	Des (30–79%)
Asthma	Uneori (5–29%)

Abnormality of prenatal development or birth

Trait	Cât de frecvent apare
Premature birth	Des (30–79%)

Abnormality of the voice

Trait	Cât de frecvent apare
Abnormality of the voice	Foarte des (80–99%)

Laboratory abnormality

Trait	Cât de frecvent apare
Temperature instability	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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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