Traits

Traits linked to SP7

Sp7 transcription factor

The Human Phenotype Ontology links 35 traits to SP7, 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
Delayed eruption of teeth	Always
Depressed nasal bridge	Always
Extra bones within cranial sutures	Always
Facial asymmetry	Always
High palate	Always
Little lower jaw	Always
Midface retrusion	Always
Narrow mouth	Always
Prominent brow	Always
Prominent forehead	Always
Big calvaria	Very often (80–99%)
Coarse facial features	Very often (80–99%)
Enlargement of craniofacial bones	Very often (80–99%)
Frontal bossing	Very often (80–99%)
Wide nasal bridge	Very often (80–99%)
High, prominent forehead	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized osteoporosis	Always
Increased mobility of hinge joints	Always
Osteoporosis	Always
Pigeon chest	Always
Recurrent fractures	Always
Scoliosis	Always
Abnormality of the ribs	Very often (80–99%)

Abnormality of limbs

Trait	How often it is seen
Bowed legs	Always
Bowing of the arm	Always
Bowing of the long bones	Always
Finger joint hyperextensibility	Always
Thickening of shaft or central part of long bones	Very often (80–99%)

Abnormality of the ear

Trait	How often it is seen
Conductive deafness	Often (30–79%)
Narrow ear canal	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Motor delay	Always
Intellectual disability	Very often (80–99%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Optic atrophy	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Always

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 SP7 and how often each is seen. Find out more at hpo.jax.org.

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