Traits

Traits linked to SLC26A2

solute carrier family 26 member 2

The Human Phenotype Ontology links 198 traits to SLC26A2, by body system: features seen in people with one of the gene's rare conditions.

SLC26A2

Abnormality of limbs

Trait	How often it is seen
Hitchhiker thumb	Always
Abnormal shape of long bones of hand	Very often (80–99%)
Abnormality of the wide portion of a long bone	Very often (80–99%)
Attachment of thumb close to wrist	Very often (80–99%)
Bowing of the long bones	Very often (80–99%)
Fused finger bones	Very often (80–99%)
Knock knees	Very often (80–99%)
Limb undergrowth	Very often (80–99%)
Short finger	Very often (80–99%)
Short foot	Very often (80–99%)
Smaller or shorter than typical limbs	Very often (80–99%)
Acetabular dysplasia	Often (30–79%)
Club feet	Often (30–79%)
Club foot on both sides	Often (30–79%)
Coxa vara	Often (30–79%)
Dislocated kneecap	Often (30–79%)
Disproportionately short upper portion of limb	Often (30–79%)
Double-layered patella	Often (30–79%)
Dumbbell-shaped thighbone	Often (30–79%)
Elbow flexion contracture	Often (30–79%)
Equinovarus deformity	Often (30–79%)
Finger bends toward pinky	Often (30–79%)
Front half of foot turns inward	Often (30–79%)
Gap between 1st and 2nd toes	Often (30–79%)
Internally rotated hips	Often (30–79%)
Permanent flexion of the finger	Often (30–79%)
Rhizomelic arm shortening	Often (30–79%)
Short finger bones	Often (30–79%)
Short fingers or toes	Often (30–79%)
Short lower limbs	Often (30–79%)
Short thighbone	Often (30–79%)
Shortened long bone of hand	Often (30–79%)
Tibial torsion	Often (30–79%)
Ulnar deviation of the hand or of fingers of the hand	Often (30–79%)
Upper limb undergrowth	Often (30–79%)
Wide digital bones	Often (30–79%)
Wide long bones of hand	Often (30–79%)
Abnormal shape of hand	Sometimes (5–29%)
Abnormal ulnar epiphysis morphology	Sometimes (5–29%)
Abnormality of forearm bone	Sometimes (5–29%)
Acromicria	Sometimes (5–29%)
Bowing of outer large bone of the forearm	Sometimes (5–29%)
Broad femoral neck	Sometimes (5–29%)
Broad foot	Sometimes (5–29%)
Broad wide portion of long bone	Sometimes (5–29%)
Contracture of the proximal interphalangeal joint of the 3rd finger	Sometimes (5–29%)
Curvature of little finger	Sometimes (5–29%)
Curving of inner forearm bone	Sometimes (5–29%)
Delayed maturation of the head of the thigh bone	Sometimes (5–29%)
Elbow dislocation	Sometimes (5–29%)
Flattened radial epiphyses	Sometimes (5–29%)
Fusion of the long bones of the feet	Sometimes (5–29%)
Hip dislocation	Sometimes (5–29%)
Short long bone of foot	Sometimes (5–29%)
Short neck of thighbone	Sometimes (5–29%)
Short thumb	Sometimes (5–29%)
Short toe	Sometimes (5–29%)
Skewfoot	Sometimes (5–29%)
Ulnar deviation of the hand	Sometimes (5–29%)
Flat acetabular roof	Not recorded
Flat end part of innermost thighbone	Not recorded
Hip contracture	Not recorded
Limited elbow flexion	Not recorded
Notched long bone in upper arm	Not recorded
Short middle bone of finger	Not recorded
Small head of thigh bone	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Increased intervertebral space	Always
Abnormal collarbone	Very often (80–99%)
Abnormal enchondral ossification	Very often (80–99%)
Abnormal shape of end part of bone	Very often (80–99%)
Abnormal skeletal development	Very often (80–99%)
Abnormal vertebral body morphology	Very often (80–99%)
Abnormality of the ribs	Very often (80–99%)
Hypoplastic cervical vertebrae	Very often (80–99%)
Increased bone mineral density	Very often (80–99%)
Lethal skeletal dysplasia	Very often (80–99%)
Multiple epiphyseal dysplasia	Very often (80–99%)
Narrow chest	Very often (80–99%)
Scoliosis	Very often (80–99%)
Shorter than typical length between neck and abdomen	Very often (80–99%)
Abnormal formation of the hip	Often (30–79%)
Advanced bone age	Often (30–79%)
Bell-shaped thorax	Often (30–79%)
Excessive inward curvature of lower spine	Often (30–79%)
Flat end part of bone	Often (30–79%)
Flattended end part of thigh bone	Often (30–79%)
Flexed joint that cannot be straightened	Often (30–79%)
Hip joint pain	Often (30–79%)
Hunched back	Often (30–79%)
Joint contracture	Often (30–79%)
Joint dislocation	Often (30–79%)
Joint stiffness	Often (30–79%)
Limitation of joint mobility	Often (30–79%)
Low muscle tone	Often (30–79%)
Permanent flexion of the finger or toe	Often (30–79%)
Premature osteoarthritis	Often (30–79%)
Rounded neck	Often (30–79%)
Short ribs	Often (30–79%)
Small chest	Often (30–79%)
Thoracolumbar kyphoscoliosis	Often (30–79%)
Thoracolumbar kyphosis	Often (30–79%)
Abnormal deposits of calcium in the brain	Sometimes (5–29%)
Double-Jointed	Sometimes (5–29%)
Stiff ankle	Sometimes (5–29%)
Abnormal development of end part of bone	Not recorded
Abnormal shape of pelvic girdle bone	Not recorded
Absent or minimally ossified vertebral bodies	Not recorded
Coronal cleft vertebrae	Not recorded
Costal cartilage calcification	Not recorded
Flattened vertebrae	Not recorded
Horizontal sacrum	Not recorded
Irregular end part of long bone	Not recorded
Kyphoscoliosis	Not recorded
Lacunar halos around chondrocytes	Not recorded
Short greater sciatic notch	Not recorded
Short long bone	Not recorded
Small wings of the pelvic girdle	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Very often (80–99%)
Depressed nasal bridge	Very often (80–99%)
Flat face	Very often (80–99%)
Frontal bossing	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Long philtrum	Very often (80–99%)
Midface retrusion	Very often (80–99%)
Nasal tip, upturned	Very often (80–99%)
Short neck	Very often (80–99%)
Short nose	Very often (80–99%)
Thickened skin folds of neck	Very often (80–99%)
Abnormal facial shape	Often (30–79%)
Cleft palate	Often (30–79%)
Full cheeks	Often (30–79%)
Short chin	Often (30–79%)
Underdeveloped tissue around nostril	Often (30–79%)
Asymmetry of the posterior head	Sometimes (5–29%)
Broad forehead	Sometimes (5–29%)
Corners of eye widely separated	Sometimes (5–29%)
Cystic hygroma	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Facial midline hemangioma	Sometimes (5–29%)
High frontal hairline	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Narrow mouth	Sometimes (5–29%)
Narrow nose	Sometimes (5–29%)
Right and left cleft palate	Sometimes (5–29%)
Thin red part of the upper lip	Sometimes (5–29%)
Wide nasal base	Sometimes (5–29%)
Zygomatic flattening	Not recorded

Abnormality of the ear

Trait	How often it is seen
Large earlobe	Very often (80–99%)
Ears rotated toward back of head	Often (30–79%)
Overfolded ears	Often (30–79%)
Abnormal earlobe	Sometimes (5–29%)
Abnormally shaped ears	Sometimes (5–29%)
Hearing impairment	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)
Narrow ear canal	Sometimes (5–29%)
Cystic lesions of the pinnae	Not recorded
Hypertrophic auricular cartilage	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Absent/small lungs	Very often (80–99%)
Laryngeal cartilage malformation	Often (30–79%)
Laryngeal stenosis	Often (30–79%)
Poorly developed lungs	Often (30–79%)
Tracheobronchomalacia	Often (30–79%)
Obstructive lung disease	Sometimes (5–29%)
Respiratory function loss	Sometimes (5–29%)
Laryngotracheal stenosis	Not recorded

Growth abnormality

Trait	How often it is seen
Disproportionate short-limb short stature	Always
Small for gestational age	Always
Disproportionate short stature	Very often (80–99%)
Neonatal short-limb short stature	Very often (80–99%)
Prenatal growth deficiency	Very often (80–99%)
Severe short stature	Very often (80–99%)
Short stature	Very often (80–99%)
Moderate short stature	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Femoral hernia	Often (30–79%)
Umbilical hernia	Often (30–79%)
Belly sticks out	Sometimes (5–29%)
Abdominal bloating	Not recorded
Inguinal hernia	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Cervical spina bifida	Often (30–79%)
Waddling gait	Often (30–79%)
Acroparesthesia	Sometimes (5–29%)
Pressure on spinal cord	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Sometimes (5–29%)
Visceral angiomatosis	Sometimes (5–29%)
Glabellar hemangioma	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Often (30–79%)
Feet or buttocks of fetus positioned near opening of uterus	Not recorded

Abnormality of the eye

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

Abnormality of the integument

Trait	How often it is seen
Hyperelastic skin	Sometimes (5–29%)
port-wine stain	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Hydrops fetalis	Very often (80–99%)
Fluid retention	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Often (30–79%)

Abnormality of the voice

Trait	How often it is seen
Hoarse voice	Not recorded

Constitutional symptom

Trait	How often it is seen
Joint pain	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 SLC26A2 and how often each is seen. Find out more at hpo.jax.org.

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