Traits

Traits linked to SOST

sclerostin

The Human Phenotype Ontology links 75 traits to SOST, 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
Abnormal dental position	Always
Big lower jaw	Always
Big sella turcica	Always
Boxer's nasal deformity	Always
Craniofacial osteosclerosis	Always
Depressed nasal bridge	Always
Enlargement of craniofacial bones	Always
Frontal bossing	Always
Large face	Always
Narrowing of the rear opening of the nasal cavity	Always
Prominent brow	Always
Abnormality of the nose	Very often (80–99%)
Big calvaria	Very often (80–99%)
Coarse facial features	Very often (80–99%)
Enlargement of skull bones	Very often (80–99%)
Wide nasal bridge	Very often (80–99%)
Bell's palsy	Often (30–79%)
Bad bite	Not recorded
Facial diplegia	Not recorded
Facial palsy secondary to cranial hyperostosis	Not recorded
Midface retrusion	Not recorded
Zygomatic flattening	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Cortical sclerosis	Always
Sclerotic vertebral endplates	Always
Abnormal collarbone	Very often (80–99%)
Abnormal cortical bone morphology	Very often (80–99%)
Abnormality of the ribs	Very often (80–99%)
Increased bone density in skeletal bones	Very often (80–99%)
Increased bone mineral density	Very often (80–99%)
Abnormal shape of pelvic girdle bone	Not recorded
Broad collarbone	Not recorded
Broad ribs	Not recorded
Cortically dense long tubular bones	Not recorded
Sclerotic scapulae	Not recorded
Thickened cortex of long bones	Not recorded
Thickened ribs	Not recorded

Abnormality of the eye

Trait	How often it is seen
Blurred vision	Always
Bulging eye	Always
Optic atrophy	Always
Papilledema	Always
Visual loss	Always
Drooping upper eyelid	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Not recorded
Inward turning cross eyed	Not recorded
Limited peripheral vision	Not recorded
Optic atrophy from cranial nerve compression	Not recorded
Progressive loss of vision	Not recorded
Wide-set eyes	Not recorded

Abnormality of limbs

Trait	How often it is seen
Webbed fingers or toes	Always
Curved outermost finger bone of the hand	Very often (80–99%)
Finger syndactyly	Very often (80–99%)
Thickening of shaft or central part of long bones	Very often (80–99%)
Webbed 2nd-3rd fingers	Very often (80–99%)
Atypical position of finger	Not recorded
Increased bone density in shaft of long bone	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Headache	Always
Intellectual disability	Very often (80–99%)
Cognitive impairment	Not recorded
Cranial nerve paralysis	Not recorded
Rise in pressure inside skull	Not recorded

Abnormality of the ear

Trait	How often it is seen
Conductive deafness	Often (30–79%)
Narrow ear canal	Often (30–79%)
Sensorineural hearing impairment	Often (30–79%)
Hearing impairment	Not recorded

Growth abnormality

Trait	How often it is seen
Short stature	Very often (80–99%)
Tall stature	Very often (80–99%)
General overgrowth	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated alkaline phosphatase	Always
Elevated circulating parathyroid hormone level	Always
Elevated circulating PINP concentration	Not recorded

Abnormality of the integument

Trait	How often it is seen
Atypical nail growth	Always
Abnormal fingernail development	Very often (80–99%)

Constitutional symptom

Trait	How often it is seen
Joint pain	Always
Sudden death	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Menstrual irregularity	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 SOST and how often each is seen. Find out more at hpo.jax.org.

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