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

Abnormality of the cardiovascular system

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

Abnormality of limbs

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

Abnormality of the musculoskeletal system

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

Abnormality of the eye

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

Abnormality of the nervous system

Trait	Cât de frecvent apare
Dural ectasia	Întotdeauna
Lateral ventricular asymmetry	Întotdeauna
Motor delay	Întotdeauna
Too much cerebrospinal fluid in the brain	Întotdeauna
Intellectual disability	Foarte des (80–99%)
Cognitive impairment	Des (30–79%)
Communicating hydrocephalus	Des (30–79%)
Decreased nerve conduction velocity	Des (30–79%)
Decreased reflex response	Des (30–79%)
Chiari malformation	Uneori (5–29%)
Constrictive median neuropathy	Uneori (5–29%)
Impaired pain sensation	Uneori (5–29%)
Intellectual disability, mild	Uneori (5–29%)
Obstructive sleep apnea	Uneori (5–29%)
Peripheral neuropathy	Uneori (5–29%)
Toe walking	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)
Spontaneous cerebrospinal fluid leak	Rar (1–4%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Emphysema	Întotdeauna
Low blood oxygen level	Foarte des (80–99%)
Neonatal respiratory distress	Foarte des (80–99%)
Exertional breathlessness	Des (30–79%)
Obstructive lung disease	Des (30–79%)
Paroxysmal dyspnea	Des (30–79%)
Abnormality in area between air sacs in lung	Uneori (5–29%)
Apnea	Uneori (5–29%)
Collapsed lung	Uneori (5–29%)
Coughing up blood	Uneori (5–29%)
Floppy windpipe	Uneori (5–29%)
Laryngeal stenosis	Uneori (5–29%)
Narrowing of windpipe	Uneori (5–29%)
Respiratory function loss	Uneori (5–29%)
Softening of voice box tissue	Uneori (5–29%)
Stiff lung or chest wall causing decreased lung volume	Uneori (5–29%)

Abnormality of the integument

Trait	Cât de frecvent apare
Beauty mark	Întotdeauna
Premature aged appearance	Întotdeauna
Stiff skin	Întotdeauna
Stretch marks	Întotdeauna
Tight skin	Întotdeauna
Hanging skin	Foarte des (80–99%)
Thickened skin	Foarte des (80–99%)
Excessive hair growth	Des (30–79%)
Patchy darkened skin	Des (30–79%)
Absent/small skin	Uneori (5–29%)
Firm lump under the skin	Uneori (5–29%)
Hyperelastic skin	Uneori (5–29%)
Reduced fat tissue below the skin	Neînregistrat

Growth abnormality

Trait	Cât de frecvent apare
Disproportionate tall stature	Întotdeauna
Prenatal growth deficiency	Întotdeauna
Short stature	Întotdeauna
Tall stature	Întotdeauna
Severe short stature	Foarte des (80–99%)
Small for gestational age	Foarte des (80–99%)
Reduced upper to lower segment ratio	Des (30–79%)
Decreased body weight	Uneori (5–29%)
Faltering weight	Uneori (5–29%)
Proportionate short stature	Neînregistrat

Abnormality of the digestive system

Trait	Cât de frecvent apare
Belly sticks out	Întotdeauna
Feeding difficulties in infancy	Întotdeauna
Umbilical hernia	Întotdeauna
Feeding difficulties	Foarte des (80–99%)
Acid reflux	Des (30–79%)
Inguinal hernia	Des (30–79%)
Absent/small abdominal wall muscles	Uneori (5–29%)
Enlarged liver	Uneori (5–29%)
Incisional hernia	Neînregistrat

Abnormality of the ear

Trait	Cât de frecvent apare
Thickened helices	Întotdeauna
Ears rotated toward back of head	Foarte des (80–99%)
Low-set ears	Foarte des (80–99%)
Conductive deafness	Des (30–79%)
Crumpled ear	Des (30–79%)
Prominent ear	Uneori (5–29%)
Sensorineural hearing impairment	Uneori (5–29%)

Abnormality of prenatal development or birth

Trait	Cât de frecvent apare
Premature birth	Întotdeauna
High levels of amniotic fluid	Des (30–79%)
Short fetal thigh bone length	Des (30–79%)
Low levels of amniotic fluid	Neînregistrat

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Decreased testicular size	Foarte des (80–99%)
Kidney stone	Uneori (5–29%)
Undescended testes	Uneori (5–29%)

Abnormality of the immune system

Trait	Cât de frecvent apare
Asthma	Des (30–79%)
Recurrent ear infections	Des (30–79%)
Autoimmune antibody positivity	Rar (1–4%)

Abnormality of blood and blood-forming tissues

Trait	Cât de frecvent apare
Bruising susceptibility	Uneori (5–29%)
Subarachnoid hemorrhage	Uneori (5–29%)

Laboratory abnormality

Trait	Cât de frecvent apare
Abnormal circulating lipid concentration	Uneori (5–29%)
Noninsulin-dependent diabetes	Uneori (5–29%)

Abnormality of the endocrine system

Trait	Cât de frecvent apare
Underactive thyroid	Rar (1–4%)

Abnormality of the voice

Trait	Cât de frecvent apare
Hoarse voice	Uneori (5–29%)

Constitutional symptom

Trait	Cât de frecvent apare
Chest pain	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 FBN1 and how often each is seen. Find out more at hpo.jax.org.

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