GTR Home > Conditions/Phenotypes > Langer-Giedion syndrome

Summary

Langer-Giedion syndrome is a condition that causes bone abnormalities and distinctive facial features. People with this condition have multiple noncancerous (benign) bone tumors called exostoses. Multiple exostoses may result in pain, limited range of joint movement, and pressure on nerves, blood vessels, the spinal cord, and tissues surrounding the exostoses. Affected individuals also have short stature and cone-shaped ends of the long bones (epiphyses). The characteristic appearance of individuals with Langer-Giedion syndrome includes sparse scalp hair, a rounded nose, a long flat area between the nose and the upper lip (philtrum), and a thin upper lip. Some people with this condition have loose skin in childhood, which typically resolves with age. Affected individuals may have some intellectual disability. [from GHR]

Available tests

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Clinical features

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  • Bulbous nose
  • Short stature
  • Vesicoureteral reflux
  • Rib exostoses
  • Multiple long-bone exostoses
  • Redundant skin in infancy
  • Deep philtrum
  • Intellectual disability
  • Microcephaly
  • Scapular exostoses
  • Cognitive impairment
  • Sparse scalp hair
  • Low-set, posteriorly rotated ears
  • Macrotia
  • Long philtrum
  • Cone-shaped epiphysis
  • Micrognathia
  • Single transverse palmar crease
  • Bone pain
  • Syndactyly
  • Recurrent urinary tract infections
  • Abnormality of the palate
  • Thin vermilion border
  • Hearing impairment
  • Abnormality of the pinna
  • Conductive hearing impairment
  • Abnormality of the nasal alae
  • Wide nasal bridge
  • Deeply set eye
  • Thick eyebrow
  • Exotropia
  • Delayed speech and language development
  • Cutis laxa
  • Brachydactyly syndrome
  • Muscular hypotonia
  • Joint dislocation
  • Joint hypermobility
  • Mild postnatal growth retardation
  • Fragile nails
  • Talipes
  • Ventriculomegaly
  • Malformation of the heart and great vessels
  • Scoliosis
  • Delayed skeletal maturation
  • Recurrent upper respiratory tract infections
  • Abnormality of the femur
  • Genu valgum
  • Abnormality of the hip bone
  • Scapular winging
  • Nevus
  • Abnormal nasal morphology
  • Avascular necrosis of the capital femoral epiphysis
  • Cone-shaped epiphyses of the phalanges of the hand
  • Increased number of teeth
  • Exostoses
  • Abnormal hair quantity
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