Langer-Giedion syndrome
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A child presents with sparse hair, a bulbous nose, multiple cartilaginous exostoses, and cone-shaped epiphyses on hand radiographs. CMA reveals a deletion at 8q24.1.
AD (de novo); 8q24.1 contiguous gene deletion involving TRPS1 and EXT1
- Also known as trichorhinophalangeal syndrome type II (TRPS II)
- TRPS1 deletion → hair, facial, and skeletal features (trichorhinophalangeal phenotype)
- EXT1 deletion → multiple cartilaginous exostoses (hereditary multiple osteochondromas)
- Contiguous gene syndrome: combined phenotype of TRPS I + hereditary multiple exostoses
- Sparse, fine, slowly growing scalp hair
- Bulbous "pear-shaped" nose
- Long philtrum, thin upper lip
- Cone-shaped epiphyses (characteristic radiographic finding)
- Multiple cartilaginous exostoses (osteochondromas)
- Short stature
- Mild to moderate intellectual disability
- Redundant skin in infancy
- CMA detects 8q24.1 deletion encompassing TRPS1 and EXT1
- Hand radiographs: cone-shaped epiphyses
- Skeletal survey: multiple exostoses
- Orthopedic surveillance for exostoses; surgical removal if painful or interfering with function
- Small increased risk for malignant transformation of exostoses to chondrosarcoma or osteosarcoma
- Growth monitoring
- Developmental support
- Dermatologic management for skin laxity
"Can you Get it Done (Giedion) in 8 hours instead of 24 hours?" → locus is 8q24.
"I was TRaPped in residency for the Longest (Langer) time with no EXIT in sight." → TRPS1 and EXT1 deletion, Langer-Giedion syndrome.