Traits

Traits linked to SHOX

SHOX homeobox

The Human Phenotype Ontology links 72 traits to SHOX, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	How often it is seen
Increased carrying angle	Always
Madelung deformity	Always
Mesomelic arm shortening	Always
Rhizomelic arm shortening	Always
Abnormal humerus morphology	Very often (80–99%)
Abnormal morphology of the radius	Very often (80–99%)
Abnormal morphology of ulna	Very often (80–99%)
Abnormal wrist bones	Very often (80–99%)
Abnormality of the shankbone	Very often (80–99%)
Abnormality of the thighbone	Very often (80–99%)
Abnormality of the wide portion of a long bone	Very often (80–99%)
Absent kneecap	Very often (80–99%)
Absent/small calf bone	Very often (80–99%)
Bowed shankbone	Very often (80–99%)
Bowing of outer large bone of the forearm	Very often (80–99%)
Bowing of the long bones	Very often (80–99%)
Curvature of little finger	Very often (80–99%)
Curving of inner forearm bone	Very often (80–99%)
Disproportionately short middle portion of limb	Very often (80–99%)
Dorsal subluxation of ulna	Very often (80–99%)
Finger bends toward pinky	Very often (80–99%)
Forearm undergrowth	Very often (80–99%)
Knock knees	Very often (80–99%)
Limited wrist movement	Very often (80–99%)
Lower limb undergrowth	Very often (80–99%)
Mesomelic/rhizomelic limb shortening	Very often (80–99%)
Outward bow-leggedness	Very often (80–99%)
Outward turned elbows	Very often (80–99%)
Short fingers or toes	Very often (80–99%)
Short foot	Very often (80–99%)
Short neck of thighbone	Very often (80–99%)
Short shinbone	Very often (80–99%)
Smaller or shorter than typical limbs	Very often (80–99%)
Thickening of shaft or central part of long bones	Very often (80–99%)
Ulnar radial head dislocation	Very often (80–99%)
Underdeveloped inner large forearm bone	Very often (80–99%)
Underdeveloped outer large forearm bone	Very often (80–99%)
Elbow dislocation	Often (30–79%)
Abnormal neck of thigh bone	Not recorded
Abnormal shape of long bones of hand	Not recorded
Abnormality of the long bone of foot	Not recorded
Broad ulna	Not recorded
Coxa valga	Not recorded
Limited elbow movement	Not recorded
Short calf bone	Not recorded
Short toe	Not recorded
Shortened 4th long bone of hand	Not recorded
Small to absent calf bone	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal shape of end part of bone	Very often (80–99%)
Abnormal shape of pelvic girdle bone	Very often (80–99%)
Abnormality of the hip bone	Very often (80–99%)
Cone-shaped end part of bone	Very often (80–99%)
Formation of new noncancerous bone on top of existing bone	Very often (80–99%)
Increased skeletal muscle cells	Very often (80–99%)
Joint stiffness	Very often (80–99%)
Scoliosis	Very often (80–99%)
Excessive inward curvature of lower spine	Not recorded
Multiple exostoses	Not recorded

Abnormality of head or neck

Trait	How often it is seen
High palate	Always
Depressed nasal bridge	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Short neck	Very often (80–99%)
Wide nasal bridge	Very often (80–99%)
Abnormality of cranium	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Mesomelic short stature	Always
Disproportionate short-limb short stature	Very often (80–99%)
Severe short stature	Very often (80–99%)
Short stature	Very often (80–99%)
Obesity	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Absent/small toenails	Very often (80–99%)
Small fingernail	Very often (80–99%)

Laboratory abnormality

Trait	How often it is seen
Episodic ketoacidosis	Very often (80–99%)

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

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