Traits

Traits linked to MESD

mesoderm development LRP chaperone

The Human Phenotype Ontology links 30 traits to MESD, 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
Abnormally small head	Often (30–79%)
Absence of adult teeth	Often (30–79%)
Extra bones within cranial sutures	Often (30–79%)
High palate	Often (30–79%)
Highly arched eyebrow	Often (30–79%)
Receding chin	Often (30–79%)
Tented mouth	Often (30–79%)
Asymmetry of the posterior head	Sometimes (5–29%)
Big lower jaw	Sometimes (5–29%)
Broad head shape	Sometimes (5–29%)
Bulbous nose	Sometimes (5–29%)
Limited hair on end of eyebrow	Sometimes (5–29%)
Narrow palate	Sometimes (5–29%)
Pointed chin	Sometimes (5–29%)
Midface retrusion	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Kyphoscoliosis	Often (30–79%)
Multiple fractures present at birth	Often (30–79%)
Narrow chest	Often (30–79%)
Asymmetric chest	Sometimes (5–29%)
Compression fracture of a vertebral body	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Often (30–79%)
Crumpled ear	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed motor skills	Always
Delayed speech and language development	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Disproportionate short-limb short stature	Not recorded
Prenatal growth deficiency	Not recorded

Abnormality of the eye

Trait	How often it is seen
Blue outer white part of eyeball	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Sparse hair	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 MESD and how often each is seen. Find out more at hpo.jax.org.

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