The clinical features of SOFT syndrome include:
Growth problems
- Growth retardation
- Short stature
- Low birth weight
- Abnormally large head in childhood
- Abnormally small head in adulthood
- Abnormally long head (rare)
Facial differences (variable)
- Long face
- Triangular face
- Prominent forehead
- Large jaw
- Pointed chin
- Small ears
- Abnormally increased distance between the eyes
- Deep-set eyes
- Prominent nose
- Variable dental anomalies
Genitourinary problems (some patients)
Female
- Underdevelopment or absence of clitoris
Male
- Low sperm concentration in semen
Skeletal problems
- Short neck of the femur (thigh bone)
- Bone age delay
- Delayed bone formation in the vertebral bodies
- Underdevelopment of the pelvis and sacrum
- Short long bones e.g. femur, humerus (arm bone between the shoulder and elbow)
- Thick long bones
- Small hands
- Shortening of the fingers
- Underdevelopment of the middle bone in the fifth finger, causing a wedge-shaped finger
- Delay in bone formation
- Short toes
Hair and nail changes
- Underdevelopment of the nails
- Sparse hair (e.g. axillary hair, pubic hair, facial hair) after puberty
- Baldness (some patients)
Neurologic problems (rare)
- Psychomotor delay
- Low muscle tone
Other problems (variable; rare or found in some patients)
- Unusual, high-pitched voice
- Waddling gait
- Type 2 diabetes mellitus (rare)
- Intellectual disability (rare)
- Deafness (rare)
- Severe insulin resistance and dyslipidemia (rare)
- Severe narrowing of foramen magnum (the hole in the base of the skull through which the spinal cord passes) (rare)
- Narrowing of the airway (rare)
- Underdeveloped breasts (rare)
- Gynecomastia (enlargement of breast tissue in males)