Traits

Traits linked to FBN1

fibrillin 1

The Human Phenotype Ontology links 303 traits to FBN1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	Kuinka usein sitä esiintyy
Big calvaria	Aina
Broad forehead	Aina
Deficient area between the eyebrows	Aina
Downward slanting of the opening between the eyelids	Aina
Dry eye syndrome	Aina
High palate	Aina
High, narrow palate	Aina
Narrow nasal ridge	Aina
Narrow nose	Aina
Prominent forehead	Aina
Prominent nasal bridge	Aina
Receding chin	Aina
Triangular face	Aina
Abnormality of the eyebrow	Hyvin usein (80–99%)
Corners of eye widely separated	Hyvin usein (80–99%)
Little lower jaw	Hyvin usein (80–99%)
Long eyelashes	Hyvin usein (80–99%)
Long philtrum	Hyvin usein (80–99%)
Long, narrow head	Hyvin usein (80–99%)
Nasal tip, upturned	Hyvin usein (80–99%)
Round face	Hyvin usein (80–99%)
Short nose	Hyvin usein (80–99%)
Big lower jaw	Usein (30–79%)
Bulbous nose	Usein (30–79%)
Decreased size of maxilla	Usein (30–79%)
Deformity of the skull	Usein (30–79%)
Frontal bossing	Usein (30–79%)
Full lower lip	Usein (30–79%)
High forehead	Usein (30–79%)
Increased size of nasopharyngeal adenoids	Usein (30–79%)
Narrow mouth	Usein (30–79%)
Thin red part of the upper lip	Usein (30–79%)
Wide nasal bridge	Usein (30–79%)
Zygomatic flattening	Usein (30–79%)
Abnormally small head	Joskus (5–29%)
Dental crowding	Joskus (5–29%)
Midface retrusion	Joskus (5–29%)
Abnormal dental position	Ei kirjattu
Abnormality of dental shape	Ei kirjattu
Broad head shape	Ei kirjattu
Broad skull	Ei kirjattu
Decreased depth of eye sockets	Ei kirjattu
Deep philtrum	Ei kirjattu
Depressed nasal bridge	Ei kirjattu
Full cheeks	Ei kirjattu
Long face	Ei kirjattu
Narrow face	Ei kirjattu
Narrow palate	Ei kirjattu
Scaphocephaly	Ei kirjattu
Smooth philtrum	Ei kirjattu

Abnormality of the cardiovascular system

Trait	Kuinka usein sitä esiintyy
Ascending aortic dissection	Aina
Bulge in wall of large artery that carries blood away from heart	Aina
Bulge in wall of root of large artery that carries blood away from heart	Aina
Cardiac failure	Aina
Mitral regurgitation	Aina
Mitral valve prolapse	Aina
Tricuspid regurgitation	Aina
Abnormal cardiac ventricle morphology	Hyvin usein (80–99%)
Abnormality of the cardiovascular system	Hyvin usein (80–99%)
Bulging of wall of large artery located above heart	Hyvin usein (80–99%)
Cutis marmorata	Hyvin usein (80–99%)
Heart murmur	Hyvin usein (80–99%)
Mucoid extracellular matrix accumulation	Hyvin usein (80–99%)
Tricuspid valve prolapse	Hyvin usein (80–99%)
Abnormal aortic valve morphology	Usein (30–79%)
Abnormal cardiovascular system morphology	Usein (30–79%)
Abnormal left ventricular function	Usein (30–79%)
Aortic regurgitation	Usein (30–79%)
Descending aortic dissection	Usein (30–79%)
Enlarged heart	Usein (30–79%)
High blood pressure	Usein (30–79%)
increased pulmonary artery pressure	Usein (30–79%)
Plaque build-up in arteries supplying blood to heart	Usein (30–79%)
Valvular pulmonary stenosis	Usein (30–79%)
Abdominal aortic aneurysm	Joskus (5–29%)
Aortic valve has two leaflets rather than three	Joskus (5–29%)
Brain aneurysm	Joskus (5–29%)
Carotid artery dilatation	Joskus (5–29%)
Depleted blood volume	Joskus (5–29%)
Descending thoracic aorta aneurysm	Joskus (5–29%)
Hole in center of heart	Joskus (5–29%)
Hole in heart wall separating two lower heart chambers	Joskus (5–29%)
Increased blood pressure in blood vessels of lungs	Joskus (5–29%)
Ischemic stroke	Joskus (5–29%)
Mini stroke	Joskus (5–29%)
Mitral stenosis	Joskus (5–29%)
Narrowing of aortic valve	Joskus (5–29%)
Narrowing of pulmonic valve	Joskus (5–29%)
Patent ductus arteriosus	Joskus (5–29%)
Peripheral arterial stenosis	Joskus (5–29%)
Prolonged QTc interval	Joskus (5–29%)
Stroke	Joskus (5–29%)
Tear in inner wall of large artery that carries blood away from heart	Joskus (5–29%)
Tricuspid stenosis	Joskus (5–29%)
Mitral annular calcification	Ei kirjattu
Pulmonary artery dilatation	Ei kirjattu

Abnormality of limbs

Trait	Kuinka usein sitä esiintyy
Elbow flexion contracture	Aina
Finger joint hyperextensibility	Aina
Flexion contracture of toe	Aina
Long fingers	Aina
Long slender fingers	Aina
Pes valgus	Aina
Short finger	Aina
Short foot	Aina
Short long bone of foot	Aina
Short palm	Aina
Shortened long bone of hand	Aina
Winged shoulder blade	Aina
Dropped arches	Hyvin usein (80–99%)
Inability to straighten knee	Hyvin usein (80–99%)
Inward turned thumb	Hyvin usein (80–99%)
Long toe	Hyvin usein (80–99%)
Short fingers or toes	Hyvin usein (80–99%)
Short thumb	Hyvin usein (80–99%)
Small hand	Hyvin usein (80–99%)
Talipes calcaneovarus	Hyvin usein (80–99%)
Abnormally indented hip sockets	Usein (30–79%)
High-arched foot	Usein (30–79%)
Increased arm span	Usein (30–79%)
Narrow foot	Usein (30–79%)
Permanent flexion of the finger	Usein (30–79%)
Abnormality of the thighbone	Joskus (5–29%)
Abnormality of the wide portion of a long bone	Joskus (5–29%)
Bowing of the long bones	Joskus (5–29%)
Elbow dislocation	Joskus (5–29%)
Equinus calcaneus	Joskus (5–29%)
Fifth metacarpal with ulnar notch	Joskus (5–29%)
Front half of foot turns inward	Joskus (5–29%)
Knock knees	Joskus (5–29%)
Limited elbow extension	Joskus (5–29%)
Talipes	Joskus (5–29%)
Back knee	Ei kirjattu
Broad palm	Ei kirjattu
Hammertoe	Ei kirjattu
Medial rotation of the medial malleolus	Ei kirjattu
Short finger bones	Ei kirjattu
Wide hand bones	Ei kirjattu
Wide long bone of foot	Ei kirjattu
Wide long bones of hand	Ei kirjattu

Abnormality of the musculoskeletal system

Trait	Kuinka usein sitä esiintyy
Absent fat below the skin	Aina
Delayed bone maturation	Aina
Generalized lipodystrophy	Aina
Hunched back	Aina
Limitation of joint mobility	Aina
Loss of fat tissue in localized area	Aina
Low muscle tone	Aina
Narrow chest	Aina
Permanent flexion of the finger or toe	Aina
Abnormality of connective tissue	Hyvin usein (80–99%)
Flexed joint that cannot be straightened	Hyvin usein (80–99%)
Joint stiffness	Hyvin usein (80–99%)
Limited shoulder movement	Hyvin usein (80–99%)
Pigeon chest	Hyvin usein (80–99%)
Wide rib cage	Hyvin usein (80–99%)
Double-Jointed	Usein (30–79%)
Funnel chest	Usein (30–79%)
Joint contracture	Usein (30–79%)
Phalangeal cone-shaped epiphyses	Usein (30–79%)
Scoliosis	Usein (30–79%)
Short long bone	Usein (30–79%)
Thoracic lordosis	Usein (30–79%)
Abnormal formation of the hip	Joskus (5–29%)
Abnormal shape of end part of bone	Joskus (5–29%)
Abnormal vertebral body morphology	Joskus (5–29%)
Abnormality of the sternum	Joskus (5–29%)
Inability to make and keep healthy fat tissue	Joskus (5–29%)
Kyphoscoliosis	Joskus (5–29%)
Missing ribs	Joskus (5–29%)
Muscle weakness	Joskus (5–29%)
Muscular abnormality	Joskus (5–29%)
Osteopenia	Joskus (5–29%)
Ovoid vertebral bodies	Joskus (5–29%)
Broad ribs	Ei kirjattu
Cone-shaped end part of bone	Ei kirjattu
Decreased muscle mass	Ei kirjattu
Displacement of one backbone compared to another	Ei kirjattu
Excessive inward curvature of lower spine	Ei kirjattu
Narrow spinal canal	Ei kirjattu
Premature osteoarthritis	Ei kirjattu
Thin bony cortex	Ei kirjattu

Abnormality of the eye

Trait	Kuinka usein sitä esiintyy
Astigmatism	Aina
Bulging eye	Aina
Completely dislocated lens	Aina
Decreased clarity of vision	Aina
Deeply set eye	Aina
Ectopia lentis	Aina
Iridodonesis	Aina
Microspherophakia	Aina
Severe near sightedness	Aina
Shallow anterior chamber	Aina
Enlarged cornea	Hyvin usein (80–99%)
Glaucoma	Hyvin usein (80–99%)
Wide-set eyes	Hyvin usein (80–99%)
Abnormality of the iris	Usein (30–79%)
Blue outer white part of eyeball	Usein (30–79%)
Close sighted	Usein (30–79%)
Clouding of the lens of the eye	Usein (30–79%)
Cross-eyed	Usein (30–79%)
Drooping upper eyelid	Usein (30–79%)
Displaced pupil	Joskus (5–29%)
Farsightedness	Joskus (5–29%)
Involuntary, rapid, rhythmic eye movements	Joskus (5–29%)
Lazy eye	Joskus (5–29%)
Outward facing eye ball	Joskus (5–29%)
Retinal detachment	Joskus (5–29%)
Visual impairment	Joskus (5–29%)
Visual loss	Joskus (5–29%)
Hypertropia	Harvinainen (1–4 %)
Inferior oblique muscle overaction	Harvinainen (1–4 %)
Inward turning cross eyed	Harvinainen (1–4 %)
Blindness	Ei kirjattu
Increased front to back length of eyeball	Ei kirjattu
Underdeveloped iris	Ei kirjattu

Abnormality of the nervous system

Trait	Kuinka usein sitä esiintyy
Dural ectasia	Aina
Lateral ventricular asymmetry	Aina
Motor delay	Aina
Too much cerebrospinal fluid in the brain	Aina
Intellectual disability	Hyvin usein (80–99%)
Cognitive impairment	Usein (30–79%)
Communicating hydrocephalus	Usein (30–79%)
Decreased nerve conduction velocity	Usein (30–79%)
Decreased reflex response	Usein (30–79%)
Chiari malformation	Joskus (5–29%)
Constrictive median neuropathy	Joskus (5–29%)
Impaired pain sensation	Joskus (5–29%)
Intellectual disability, mild	Joskus (5–29%)
Obstructive sleep apnea	Joskus (5–29%)
Peripheral neuropathy	Joskus (5–29%)
Toe walking	Joskus (5–29%)
Ventriculomegaly	Joskus (5–29%)
Spontaneous cerebrospinal fluid leak	Harvinainen (1–4 %)

Abnormality of the respiratory system

Trait	Kuinka usein sitä esiintyy
Emphysema	Aina
Low blood oxygen level	Hyvin usein (80–99%)
Neonatal respiratory distress	Hyvin usein (80–99%)
Exertional breathlessness	Usein (30–79%)
Obstructive lung disease	Usein (30–79%)
Paroxysmal dyspnea	Usein (30–79%)
Abnormality in area between air sacs in lung	Joskus (5–29%)
Apnea	Joskus (5–29%)
Collapsed lung	Joskus (5–29%)
Coughing up blood	Joskus (5–29%)
Floppy windpipe	Joskus (5–29%)
Laryngeal stenosis	Joskus (5–29%)
Narrowing of windpipe	Joskus (5–29%)
Respiratory function loss	Joskus (5–29%)
Softening of voice box tissue	Joskus (5–29%)
Stiff lung or chest wall causing decreased lung volume	Joskus (5–29%)

Abnormality of the integument

Trait	Kuinka usein sitä esiintyy
Beauty mark	Aina
Premature aged appearance	Aina
Stiff skin	Aina
Stretch marks	Aina
Tight skin	Aina
Hanging skin	Hyvin usein (80–99%)
Thickened skin	Hyvin usein (80–99%)
Excessive hair growth	Usein (30–79%)
Patchy darkened skin	Usein (30–79%)
Absent/small skin	Joskus (5–29%)
Firm lump under the skin	Joskus (5–29%)
Hyperelastic skin	Joskus (5–29%)
Reduced fat tissue below the skin	Ei kirjattu

Growth abnormality

Trait	Kuinka usein sitä esiintyy
Disproportionate tall stature	Aina
Prenatal growth deficiency	Aina
Short stature	Aina
Tall stature	Aina
Severe short stature	Hyvin usein (80–99%)
Small for gestational age	Hyvin usein (80–99%)
Reduced upper to lower segment ratio	Usein (30–79%)
Decreased body weight	Joskus (5–29%)
Faltering weight	Joskus (5–29%)
Proportionate short stature	Ei kirjattu

Abnormality of the digestive system

Trait	Kuinka usein sitä esiintyy
Belly sticks out	Aina
Feeding difficulties in infancy	Aina
Umbilical hernia	Aina
Feeding difficulties	Hyvin usein (80–99%)
Acid reflux	Usein (30–79%)
Inguinal hernia	Usein (30–79%)
Absent/small abdominal wall muscles	Joskus (5–29%)
Enlarged liver	Joskus (5–29%)
Incisional hernia	Ei kirjattu

Abnormality of the ear

Trait	Kuinka usein sitä esiintyy
Thickened helices	Aina
Ears rotated toward back of head	Hyvin usein (80–99%)
Low-set ears	Hyvin usein (80–99%)
Conductive deafness	Usein (30–79%)
Crumpled ear	Usein (30–79%)
Prominent ear	Joskus (5–29%)
Sensorineural hearing impairment	Joskus (5–29%)

Abnormality of prenatal development or birth

Trait	Kuinka usein sitä esiintyy
Premature birth	Aina
High levels of amniotic fluid	Usein (30–79%)
Short fetal thigh bone length	Usein (30–79%)
Low levels of amniotic fluid	Ei kirjattu

Abnormality of the genitourinary system

Trait	Kuinka usein sitä esiintyy
Decreased testicular size	Hyvin usein (80–99%)
Kidney stone	Joskus (5–29%)
Undescended testes	Joskus (5–29%)

Abnormality of the immune system

Trait	Kuinka usein sitä esiintyy
Asthma	Usein (30–79%)
Recurrent ear infections	Usein (30–79%)
Autoimmune antibody positivity	Harvinainen (1–4 %)

Abnormality of blood and blood-forming tissues

Trait	Kuinka usein sitä esiintyy
Bruising susceptibility	Joskus (5–29%)
Subarachnoid hemorrhage	Joskus (5–29%)

Laboratory abnormality

Trait	Kuinka usein sitä esiintyy
Abnormal circulating lipid concentration	Joskus (5–29%)
Noninsulin-dependent diabetes	Joskus (5–29%)

Abnormality of the endocrine system

Trait	Kuinka usein sitä esiintyy
Underactive thyroid	Harvinainen (1–4 %)

Abnormality of the voice

Trait	Kuinka usein sitä esiintyy
Hoarse voice	Joskus (5–29%)

Constitutional symptom

Trait	Kuinka usein sitä esiintyy
Chest pain	Usein (30–79%)

Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.

Mistä tämä tieto tulee

The Human Phenotype Ontology, release 2026-09-01: the traits linked to FBN1 and how often each is seen. Find out more at hpo.jax.org.

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