Traits

Traits linked to LTBP1

latent transforming growth factor beta binding protein 1

The Human Phenotype Ontology links 66 traits to LTBP1, by body system: features seen in people with one of the gene's rare conditions.

LTBP1

Abnormality of head or neck

Trait	How often it is seen
Broad nasal tip	Always
Copper beaten skull	Always
Wide nasal bridge	Always
Baggy eyes	Very often (80–99%)
Beaked nose	Very often (80–99%)
Coarse facial features	Very often (80–99%)
Full lower lip	Very often (80–99%)
Long eyelashes	Very often (80–99%)
Long philtrum	Very often (80–99%)
Premature sagging cheeks	Very often (80–99%)
Abnormal facial shape	Often (30–79%)
Abnormality of the cheek	Often (30–79%)
Abnormality of the face	Often (30–79%)
Deep laugh lines	Often (30–79%)
Deformity of the skull	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
High palate	Often (30–79%)
Highly arched eyebrow	Often (30–79%)
Abnormality of the skull	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Often (30–79%)
Hernia	Often (30–79%)
Joint subluxation	Often (30–79%)
Spontaneous fracture	Often (30–79%)
Excessive inward curvature of lower spine	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Ovoid vertebral bodies	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Shorter than typical length between neck and abdomen	Sometimes (5–29%)

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%)
Cardiac failure	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%)
Supravalvular aortic stenosis	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Very often (80–99%)
Deep palm line	Very often (80–99%)
Short fingers or toes	Very often (80–99%)
Outward bow-leggedness	Often (30–79%)
Webbed fingers or toes	Often (30–79%)
Hip dislocation	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
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%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Inguinal hernia	Often (30–79%)
Pyloric stenosis	Sometimes (5–29%)
Small bowel diverticula	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Hanging skin	Always
Fragmented elastic fibers in the dermis	Very often (80–99%)
Loose redundant skin	Very often (80–99%)
Tight skin	Very often (80–99%)

Abnormality of the respiratory system

Trait	How often it is seen
Emphysema	Very often (80–99%)
Collapsed lung	Often (30–79%)
Respiratory function loss	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Motor delay	Often (30–79%)
Specific learning disability	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Short stature	Always
Prenatal growth deficiency	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent pneumonia	Sometimes (5–29%)

Abnormality of the thoracic cavity

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

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 LTBP1 and how often each is seen. Find out more at hpo.jax.org.

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