Traits

Traits linked to SMOC1

SPARC related modular calcium binding 1

The Human Phenotype Ontology links 78 traits to SMOC1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	How often it is seen
Abnormal shape of long bones of hand	Very often (80–99%)
Abnormality of the lower limb	Very often (80–99%)
Abnormality of the upper limb	Very often (80–99%)
Finger syndactyly	Very often (80–99%)
Fused toes	Very often (80–99%)
Fusion of wrist bones	Very often (80–99%)
Gap between 1st and 2nd toes	Very often (80–99%)
Missing toes	Very often (80–99%)
Abnormality of the thumb	Often (30–79%)
Absent fingers	Often (30–79%)
Bilateral single transverse palmar creases	Often (30–79%)
Bowed shankbone	Often (30–79%)
Camptodactyly of 2nd-5th fingers	Often (30–79%)
Curvature of little finger	Often (30–79%)
Extra little finger	Often (30–79%)
Fused 4th-5th long bones of hand	Often (30–79%)
Fused ankle bones	Often (30–79%)
Fusion of the long bones of the feet	Often (30–79%)
Short calf bone	Often (30–79%)
Short shinbone	Often (30–79%)
Single transverse palmar crease	Often (30–79%)
Webbed skin of 2nd-3rd toes	Often (30–79%)
Bowing of the long bones	Sometimes (5–29%)
Broad thumb	Sometimes (5–29%)
Capitate-hamate fusion	Sometimes (5–29%)
Club feet	Sometimes (5–29%)
Elbow dislocation	Sometimes (5–29%)
Extra toe attached near the little toe	Sometimes (5–29%)
Hip dislocation	Sometimes (5–29%)
Pes valgus	Sometimes (5–29%)
Webbed 2nd-5th toes	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormality of the eyebrow	Very often (80–99%)
Decreased size of maxilla	Very often (80–99%)
Frontal bossing	Very often (80–99%)
Narrow opening between the eyelids	Very often (80–99%)
Prominent forehead	Very often (80–99%)
Cleft upper lip	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Cleft palate	Sometimes (5–29%)
Decreased volume of lip	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Hypoplasia of the primary palate bone	Sometimes (5–29%)
Increased size of tooth	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Deep philtrum	Not recorded
Downward slanting of the opening between the eyelids	Not recorded
Flared nostrils	Not recorded
Receding chin	Not recorded
Short nose	Not recorded
Short opening between the eyelids	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Often (30–79%)
Intellectual disability, severe	Often (30–79%)
IQ between 34 and 49	Often (30–79%)
Arrhinencephaly	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Intellectual disability	Not recorded

Abnormality of the eye

Trait	How often it is seen
Absence of eyeballs	Always
Abnormally small eyeball	Very often (80–99%)
Completely missing eyeball	Very often (80–99%)
Optic atrophy	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Fusion of joints	Very often (80–99%)
Abnormal vertebral body morphology	Often (30–79%)
Short long bone	Often (30–79%)
Double-Jointed	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Short stature	Often (30–79%)
Growth delay	Not recorded
Growth delay as children	Not recorded

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Often (30–79%)
Large earlobe	Often (30–79%)
Low-set ears	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Unilateral cryptorchidism	Often (30–79%)
Horseshoe kidney	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Poorly functioning veins	Sometimes (5–29%)
Interrupted inferior vena cava with azygous continuation	Not recorded

Abnormality of the integument

Trait	How often it is seen
Spinal dimple	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 SMOC1 and how often each is seen. Find out more at hpo.jax.org.

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