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

Abnormality of head or neck

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

Abnormality of the genitourinary system

Trait	Hvor ofte det ses
Decreased testicular size	Altid
Primary amenorrhea	Altid
Short penis	Altid
Abnormal erection	Meget ofte (80–99 %)
Absent sperm in semen	Meget ofte (80–99 %)
Decreased fertility	Meget ofte (80–99 %)
Difficulty getting a full erection	Meget ofte (80–99 %)
Increased female sex drive	Meget ofte (80–99 %)
Non-obstructive azoospermia	Meget ofte (80–99 %)
Underdeveloped penis	Meget ofte (80–99 %)
Undescended testes	Meget ofte (80–99 %)
Previous menstrual periods stop	Ofte (30–79 %)
Small uterus	Ofte (30–79 %)
Underdeveloped ovary	Ofte (30–79 %)
Abnormal morphology of female internal genitalia	Nogle gange (5–29 %)
Abnormality of the genitourinary system	Nogle gange (5–29 %)
Absent kidney	Nogle gange (5–29 %)
Ambiguous external genitalia	Nogle gange (5–29 %)
Dyspareunia	Nogle gange (5–29 %)
Infertility	Nogle gange (5–29 %)

Abnormality of the musculoskeletal system

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

Abnormality of the endocrine system

Trait	Hvor ofte det ses
Hypogonadotropic hypogonadism	Altid
Absence of pubertal development	Meget ofte (80–99 %)
Absence of secondary sex characteristics	Meget ofte (80–99 %)
Anterior hypopituitarism	Meget ofte (80–99 %)
Decreased function of male gonad	Meget ofte (80–99 %)
Decreased serum testosterone level	Meget ofte (80–99 %)
Delayed puberty	Meget ofte (80–99 %)
Female hypogonadism	Meget ofte (80–99 %)
Gonadotropin-releasing hormone deficiency	Meget ofte (80–99 %)
Abnormal hypothalamus physiology	Ofte (30–79 %)
Abnormality of the endocrine system	Ofte (30–79 %)
Central diabetes insipidus	Ofte (30–79 %)
Diabetes insipidus	Ofte (30–79 %)
Early onset of puberty	Ofte (30–79 %)
Central hypothyroidism	Nogle gange (5–29 %)
Decreased response to growth hormone stimulation test	Nogle gange (5–29 %)
Panhypopituitarism	Nogle gange (5–29 %)
Underactive thyroid	Nogle gange (5–29 %)
Small pituitary gland	Ikke registreret

Abnormality of the eye

Trait	Hvor ofte det ses
Abnormality of the eye	Meget ofte (80–99 %)
Abnormally close eyes	Meget ofte (80–99 %)
Cerebral visual impairment	Ofte (30–79 %)
Abnormal color vision	Nogle gange (5–29 %)
Cat eye	Nogle gange (5–29 %)
Cross-eyed	Nogle gange (5–29 %)
Cyclops eye	Nogle gange (5–29 %)
Drooping upper eyelid	Nogle gange (5–29 %)
Involuntary, rapid, rhythmic eye movements	Nogle gange (5–29 %)
Visual impairment	Nogle gange (5–29 %)
Wide-set eyes	Nogle gange (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte det ses
Feeding difficulties	Meget ofte (80–99 %)
Poor suck	Meget ofte (80–99 %)
Acid reflux	Ofte (30–79 %)
Constipation	Ofte (30–79 %)
Poor swallowing	Ofte (30–79 %)
Vomiting	Ofte (30–79 %)
Abnormal shape of the digestive system	Nogle gange (5–29 %)
Absence or narrowing of first part of small bowel	Nogle gange (5–29 %)
Anteriorly placed anus	Nogle gange (5–29 %)
Gastrostomy tube feeding in infancy	Nogle gange (5–29 %)

Growth abnormality

Trait	Hvor ofte det ses
Eunuchoid habitus	Meget ofte (80–99 %)
Faltering weight	Meget ofte (80–99 %)
Growth delay	Meget ofte (80–99 %)
Short stature	Meget ofte (80–99 %)
Abnormality of body height	Ofte (30–79 %)
Prenatal growth deficiency	Ofte (30–79 %)
Obesity	Nogle gange (5–29 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte det ses
Abnormal cardiovascular system morphology	Nogle gange (5–29 %)
Abnormal heart rate variability	Nogle gange (5–29 %)
Abnormality of the heart	Nogle gange (5–29 %)
Narrowing of aorta	Nogle gange (5–29 %)
Strawberry mark	Nogle gange (5–29 %)
Tetralogy of Fallot	Nogle gange (5–29 %)

Abnormality of limbs

Trait	Hvor ofte det ses
Abnormality of limbs	Nogle gange (5–29 %)
Dropped arches	Nogle gange (5–29 %)
High-arched foot	Nogle gange (5–29 %)
Hip dislocation	Nogle gange (5–29 %)

Abnormality of the integument

Trait	Hvor ofte det ses
Limited armpit hair	Altid
Sparse pubic hair	Altid
Sparse body hair	Meget ofte (80–99 %)
Ichthyosis	Nogle gange (5–29 %)

Abnormality of the breast

Trait	Hvor ofte det ses
Underdeveloped breasts	Meget ofte (80–99 %)
Wide-spaced nipples	Meget ofte (80–99 %)
Enlarged male breast	Ofte (30–79 %)

Abnormality of the respiratory system

Trait	Hvor ofte det ses
Abnormal pattern of respiration	Ofte (30–79 %)
Central apnea	Ofte (30–79 %)
Chronic lung disease	Ofte (30–79 %)

Abnormality of the ear

Trait	Hvor ofte det ses
Sensorineural hearing impairment	Ofte (30–79 %)
Congenital sensorineural hearing impairment	Nogle gange (5–29 %)

Abnormality of the immune system

Trait	Hvor ofte det ses
Aspiration pneumonia	Ofte (30–79 %)
Asthma	Nogle gange (5–29 %)

Abnormality of prenatal development or birth

Trait	Hvor ofte det ses
Premature birth	Ofte (30–79 %)

Abnormality of the voice

Trait	Hvor ofte det ses
Abnormality of the voice	Meget ofte (80–99 %)

Laboratory abnormality

Trait	Hvor ofte det ses
Temperature instability	Ofte (30–79 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

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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