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Kenmerken
Kenmerken gekoppeld aan FGF8
fibroblast growth factor 8
De Human Phenotype Ontology koppelt 180 kenmerken aan FGF8, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.
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Abnormality of the nervous system
Abnormality of head or neck
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Blockage of the rear opening of the nasal cavity | Heel vaak (80–99%) |
| Hyposmia | Heel vaak (80–99%) |
| Lost smell | Heel vaak (80–99%) |
| Midnasal stenosis | Heel vaak (80–99%) |
| Only one upper front tooth | Heel vaak (80–99%) |
| Abnormally small head | Vaak (30–79%) |
| Bifid uvula | Vaak (30–79%) |
| Central cleft upper lip | Vaak (30–79%) |
| Cleft palate | Vaak (30–79%) |
| Flat nose | Vaak (30–79%) |
| High palate | Vaak (30–79%) |
| Narrow nasal bridge | Vaak (30–79%) |
| Short philtrum | Vaak (30–79%) |
| Tented mouth | Vaak (30–79%) |
| Abnormal dentition | Soms (5–29%) |
| Big calvaria | Soms (5–29%) |
| Cleft lip | Soms (5–29%) |
| Cleft of the mouth | Soms (5–29%) |
| Decreased number of teeth | Soms (5–29%) |
| Depressed nasal bridge | Soms (5–29%) |
| Frontoethmoidal encephalocele | Soms (5–29%) |
| Mono nostril | Soms (5–29%) |
| Nasal tip, upturned | Soms (5–29%) |
| Proboscis | Soms (5–29%) |
| Short nose | Soms (5–29%) |
Abnormality of the genitourinary system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Decreased testicular size | Altijd |
| Primary amenorrhea | Altijd |
| Short penis | Altijd |
| Abnormal erection | Heel vaak (80–99%) |
| Absent sperm in semen | Heel vaak (80–99%) |
| Decreased fertility | Heel vaak (80–99%) |
| Difficulty getting a full erection | Heel vaak (80–99%) |
| Increased female sex drive | Heel vaak (80–99%) |
| Non-obstructive azoospermia | Heel vaak (80–99%) |
| Underdeveloped penis | Heel vaak (80–99%) |
| Undescended testes | Heel vaak (80–99%) |
| Previous menstrual periods stop | Vaak (30–79%) |
| Small uterus | Vaak (30–79%) |
| Underdeveloped ovary | Vaak (30–79%) |
| Abnormal morphology of female internal genitalia | Soms (5–29%) |
| Abnormality of the genitourinary system | Soms (5–29%) |
| Absent kidney | Soms (5–29%) |
| Ambiguous external genitalia | Soms (5–29%) |
| Dyspareunia | Soms (5–29%) |
| Infertility | Soms (5–29%) |
Abnormality of the musculoskeletal system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Delayed bone maturation | Heel vaak (80–99%) |
| Abnormal vertebral morphology | Vaak (30–79%) |
| Abnormality of the ribs | Vaak (30–79%) |
| Decreased muscle tone in infant | Vaak (30–79%) |
| Generalized decreased muscle tone | Vaak (30–79%) |
| Involuntary muscle stiffness, contraction, or spasm | Vaak (30–79%) |
| Low solidness and mass of the bones | Vaak (30–79%) |
| Osteopenia | Vaak (30–79%) |
| Osteoporosis | Vaak (30–79%) |
| Abnormal skeletal development | Soms (5–29%) |
| Abnormality of the skeletal system | Soms (5–29%) |
| EMG: myopathic abnormalities | Soms (5–29%) |
| Flexed joint that cannot be straightened | Soms (5–29%) |
| Hypermobility of all joints | Soms (5–29%) |
| Low muscle tone | Soms (5–29%) |
| Low muscle tone in trunk | Soms (5–29%) |
| Muscle weakness | Soms (5–29%) |
| Permanent flexion of the finger or toe | Soms (5–29%) |
| Recurrent fractures | Soms (5–29%) |
| Scoliosis | Soms (5–29%) |
Abnormality of the endocrine system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Hypogonadotropic hypogonadism | Altijd |
| Absence of pubertal development | Heel vaak (80–99%) |
| Absence of secondary sex characteristics | Heel vaak (80–99%) |
| Anterior hypopituitarism | Heel vaak (80–99%) |
| Decreased function of male gonad | Heel vaak (80–99%) |
| Decreased serum testosterone level | Heel vaak (80–99%) |
| Delayed puberty | Heel vaak (80–99%) |
| Female hypogonadism | Heel vaak (80–99%) |
| Gonadotropin-releasing hormone deficiency | Heel vaak (80–99%) |
| Abnormal hypothalamus physiology | Vaak (30–79%) |
| Abnormality of the endocrine system | Vaak (30–79%) |
| Central diabetes insipidus | Vaak (30–79%) |
| Diabetes insipidus | Vaak (30–79%) |
| Early onset of puberty | Vaak (30–79%) |
| Central hypothyroidism | Soms (5–29%) |
| Decreased response to growth hormone stimulation test | Soms (5–29%) |
| Panhypopituitarism | Soms (5–29%) |
| Underactive thyroid | Soms (5–29%) |
| Small pituitary gland | Niet vastgelegd |
Abnormality of the eye
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Abnormality of the eye | Heel vaak (80–99%) |
| Abnormally close eyes | Heel vaak (80–99%) |
| Cerebral visual impairment | Vaak (30–79%) |
| Abnormal color vision | Soms (5–29%) |
| Cat eye | Soms (5–29%) |
| Cross-eyed | Soms (5–29%) |
| Cyclops eye | Soms (5–29%) |
| Drooping upper eyelid | Soms (5–29%) |
| Involuntary, rapid, rhythmic eye movements | Soms (5–29%) |
| Visual impairment | Soms (5–29%) |
| Wide-set eyes | Soms (5–29%) |
Abnormality of the digestive system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Feeding difficulties | Heel vaak (80–99%) |
| Poor suck | Heel vaak (80–99%) |
| Acid reflux | Vaak (30–79%) |
| Constipation | Vaak (30–79%) |
| Poor swallowing | Vaak (30–79%) |
| Vomiting | Vaak (30–79%) |
| Abnormal shape of the digestive system | Soms (5–29%) |
| Absence or narrowing of first part of small bowel | Soms (5–29%) |
| Anteriorly placed anus | Soms (5–29%) |
| Gastrostomy tube feeding in infancy | Soms (5–29%) |
Growth abnormality
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Eunuchoid habitus | Heel vaak (80–99%) |
| Faltering weight | Heel vaak (80–99%) |
| Growth delay | Heel vaak (80–99%) |
| Short stature | Heel vaak (80–99%) |
| Abnormality of body height | Vaak (30–79%) |
| Prenatal growth deficiency | Vaak (30–79%) |
| Obesity | Soms (5–29%) |
Abnormality of the cardiovascular system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Abnormal cardiovascular system morphology | Soms (5–29%) |
| Abnormal heart rate variability | Soms (5–29%) |
| Abnormality of the heart | Soms (5–29%) |
| Narrowing of aorta | Soms (5–29%) |
| Strawberry mark | Soms (5–29%) |
| Tetralogy of Fallot | Soms (5–29%) |
Abnormality of limbs
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Abnormality of limbs | Soms (5–29%) |
| Dropped arches | Soms (5–29%) |
| High-arched foot | Soms (5–29%) |
| Hip dislocation | Soms (5–29%) |
Abnormality of the integument
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Limited armpit hair | Altijd |
| Sparse pubic hair | Altijd |
| Sparse body hair | Heel vaak (80–99%) |
| Ichthyosis | Soms (5–29%) |
Abnormality of the breast
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Underdeveloped breasts | Heel vaak (80–99%) |
| Wide-spaced nipples | Heel vaak (80–99%) |
| Enlarged male breast | Vaak (30–79%) |
Abnormality of the respiratory system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Abnormal pattern of respiration | Vaak (30–79%) |
| Central apnea | Vaak (30–79%) |
| Chronic lung disease | Vaak (30–79%) |
Abnormality of the ear
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Sensorineural hearing impairment | Vaak (30–79%) |
| Congenital sensorineural hearing impairment | Soms (5–29%) |
Abnormality of the immune system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Aspiration pneumonia | Vaak (30–79%) |
| Asthma | Soms (5–29%) |
Abnormality of prenatal development or birth
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Premature birth | Vaak (30–79%) |
Abnormality of the voice
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Abnormality of the voice | Heel vaak (80–99%) |
Laboratory abnormality
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Temperature instability | Vaak (30–79%) |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Waar dit vandaan komt
- De Human Phenotype Ontology, versie 2026-09-01: de aan FGF8 gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.
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