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

Abnormality of the cardiovascular system

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

Abnormality of limbs

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

Abnormality of the musculoskeletal system

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

Abnormality of the eye

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

Abnormality of the nervous system

Trait	나타나는 빈도
Dural ectasia	항상
Lateral ventricular asymmetry	항상
Motor delay	항상
Too much cerebrospinal fluid in the brain	항상
Intellectual disability	매우 자주 (80–99%)
Cognitive impairment	자주 (30–79%)
Communicating hydrocephalus	자주 (30–79%)
Decreased nerve conduction velocity	자주 (30–79%)
Decreased reflex response	자주 (30–79%)
Chiari malformation	가끔 (5–29%)
Constrictive median neuropathy	가끔 (5–29%)
Impaired pain sensation	가끔 (5–29%)
Intellectual disability, mild	가끔 (5–29%)
Obstructive sleep apnea	가끔 (5–29%)
Peripheral neuropathy	가끔 (5–29%)
Toe walking	가끔 (5–29%)
Ventriculomegaly	가끔 (5–29%)
Spontaneous cerebrospinal fluid leak	드물게 (1–4%)

Abnormality of the respiratory system

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

Abnormality of the integument

Trait	나타나는 빈도
Beauty mark	항상
Premature aged appearance	항상
Stiff skin	항상
Stretch marks	항상
Tight skin	항상
Hanging skin	매우 자주 (80–99%)
Thickened skin	매우 자주 (80–99%)
Excessive hair growth	자주 (30–79%)
Patchy darkened skin	자주 (30–79%)
Absent/small skin	가끔 (5–29%)
Firm lump under the skin	가끔 (5–29%)
Hyperelastic skin	가끔 (5–29%)
Reduced fat tissue below the skin	기록되지 않음

Growth abnormality

Trait	나타나는 빈도
Disproportionate tall stature	항상
Prenatal growth deficiency	항상
Short stature	항상
Tall stature	항상
Severe short stature	매우 자주 (80–99%)
Small for gestational age	매우 자주 (80–99%)
Reduced upper to lower segment ratio	자주 (30–79%)
Decreased body weight	가끔 (5–29%)
Faltering weight	가끔 (5–29%)
Proportionate short stature	기록되지 않음

Abnormality of the digestive system

Trait	나타나는 빈도
Belly sticks out	항상
Feeding difficulties in infancy	항상
Umbilical hernia	항상
Feeding difficulties	매우 자주 (80–99%)
Acid reflux	자주 (30–79%)
Inguinal hernia	자주 (30–79%)
Absent/small abdominal wall muscles	가끔 (5–29%)
Enlarged liver	가끔 (5–29%)
Incisional hernia	기록되지 않음

Abnormality of the ear

Trait	나타나는 빈도
Thickened helices	항상
Ears rotated toward back of head	매우 자주 (80–99%)
Low-set ears	매우 자주 (80–99%)
Conductive deafness	자주 (30–79%)
Crumpled ear	자주 (30–79%)
Prominent ear	가끔 (5–29%)
Sensorineural hearing impairment	가끔 (5–29%)

Abnormality of prenatal development or birth

Trait	나타나는 빈도
Premature birth	항상
High levels of amniotic fluid	자주 (30–79%)
Short fetal thigh bone length	자주 (30–79%)
Low levels of amniotic fluid	기록되지 않음

Abnormality of the genitourinary system

Trait	나타나는 빈도
Decreased testicular size	매우 자주 (80–99%)
Kidney stone	가끔 (5–29%)
Undescended testes	가끔 (5–29%)

Abnormality of the immune system

Trait	나타나는 빈도
Asthma	자주 (30–79%)
Recurrent ear infections	자주 (30–79%)
Autoimmune antibody positivity	드물게 (1–4%)

Abnormality of blood and blood-forming tissues

Trait	나타나는 빈도
Bruising susceptibility	가끔 (5–29%)
Subarachnoid hemorrhage	가끔 (5–29%)

Laboratory abnormality

Trait	나타나는 빈도
Abnormal circulating lipid concentration	가끔 (5–29%)
Noninsulin-dependent diabetes	가끔 (5–29%)

Abnormality of the endocrine system

Trait	나타나는 빈도
Underactive thyroid	드물게 (1–4%)

Abnormality of the voice

Trait	나타나는 빈도
Hoarse voice	가끔 (5–29%)

Constitutional symptom

Trait	나타나는 빈도
Chest pain	자주 (30–79%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

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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