Traits

Traits linked to FBLN5

fibulin 5

The Human Phenotype Ontology links 105 traits to FBLN5, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Baggy eyes	Very often (80–99%)
Abnormal facial shape	Often (30–79%)
Abnormality of the cheek	Often (30–79%)
Abnormality of the face	Often (30–79%)
Premature sagging cheeks	Often (30–79%)
Abnormality of the skull	Sometimes (5–29%)
Abnormally small head	Sometimes (5–29%)
Broad forehead	Sometimes (5–29%)
Delayed cranial suture closure	Sometimes (5–29%)
Prominent forehead	Sometimes (5–29%)
Redundant neck skin	Sometimes (5–29%)
Triangular face	Sometimes (5–29%)
Extra bones within cranial sutures	Rarely (1–4%)
Little foramen magnum	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Often (30–79%)
Abnormal systemic arterial morphology	Often (30–79%)
Aortic regurgitation	Often (30–79%)
Bulge in wall of large artery that carries blood away from heart	Often (30–79%)
Cardiac failure	Often (30–79%)
Mitral regurgitation	Often (30–79%)
Narrowing of peripheral lung artery	Often (30–79%)
Abnormal cardiac ventricular function	Sometimes (5–29%)
Aneurysm	Sometimes (5–29%)
Dilatation of the ventricular cavity	Sometimes (5–29%)
Narrowing of aorta	Sometimes (5–29%)
Supravalvular aortic stenosis	Sometimes (5–29%)
Bulging of wall of large artery located above heart	Not recorded
Twisted blood vessels	Not recorded

Abnormality of limbs

Trait	How often it is seen
Absent knee jerk reflex	Often (30–79%)
Decreased knee jerk reflex	Often (30–79%)
Distal lower limb muscle weakness	Often (30–79%)
Distal upper limb amyotrophy	Often (30–79%)
Distal upper limb muscle weakness	Often (30–79%)
Hip dislocation	Sometimes (5–29%)
Inward turned thumb	Sometimes (5–29%)
Back knee	Rarely (1–4%)
Club feet	Rarely (1–4%)
Dropped arches	Rarely (1–4%)
Talipes calcaneovalgus	Rarely (1–4%)
High-arched foot	Not recorded
Long slender fingers	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Distal muscle wasting	Very often (80–99%)
Weakness of outermost muscles	Very often (80–99%)
Abnormal curve of the backbone	Often (30–79%)
Distal lower limb amyotrophy	Often (30–79%)
Double-Jointed	Often (30–79%)
Hernia	Often (30–79%)
Joint subluxation	Often (30–79%)
Low muscle tone	Often (30–79%)
Spontaneous fracture	Often (30–79%)
Scoliosis	Sometimes (5–29%)
Osteopenia	Rarely (1–4%)
Funnel chest	Not recorded

Abnormality of the integument

Trait	How often it is seen
Abnormal cutaneous elastic fiber morphology	Always
Hanging skin	Always
Loose redundant skin	Always
Fragmented elastic fibers in the dermis	Very often (80–99%)
Hyperelastic skin	Very often (80–99%)
Increased number of skin folds	Very often (80–99%)
Premature skin wrinkling	Very often (80–99%)
Tight skin	Very often (80–99%)
Prematurely aged appearance	Often (30–79%)
Dermal translucency	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Macular degeneration	Often (30–79%)
Clouding of the lens of the eye at birth	Sometimes (5–29%)
Corneal opacity	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Choroidal neovascularization	Not recorded
Drusen	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Bladder diverticulum	Sometimes (5–29%)
Frequent urinary tract infections	Sometimes (5–29%)
Multiple pouches in bladder wall	Sometimes (5–29%)
Pyelonephritis	Sometimes (5–29%)
Urethral diverticulum	Sometimes (5–29%)
Vesicoureteral reflux	Sometimes (5–29%)
Absent kidney on one side	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Decreased sensation in extremities	Always
Peripheral axonal neuropathy	Always
Motor delay	Often (30–79%)
Brisk reflexes	Sometimes (5–29%)
Decreased nerve conduction velocity	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Autism spectrum disorder	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Inguinal hernia	Often (30–79%)
Feeding difficulties	Sometimes (5–29%)
Pyloric stenosis	Sometimes (5–29%)
Small bowel diverticula	Sometimes (5–29%)
Vomiting	Rarely (1–4%)
Umbilical hernia	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Emphysema	Always
Collapsed lung	Often (30–79%)
Respiratory function loss	Often (30–79%)
Permanent enlargement of the airways of the lungs	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Always
Recurrent pneumonia	Sometimes (5–29%)
Unusual bronchiolitis	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Often (30–79%)
Growth delay as children	Sometimes (5–29%)
General overgrowth	Not recorded

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Sometimes (5–29%)
Prominent ear	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Low levels of amniotic fluid	Not recorded

Abnormality of the thoracic cavity

Trait	How often it is seen
Abnormality of the thoracic cavity	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Deficient in vitamin D	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to FBLN5 and how often each is seen. Find out more at hpo.jax.org.

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