CLINICAL CHARACTERISTICS: Thanatophoric dysplasia (TD) is a short-limb skeletal dysplasia that is typically lethal in the perinatal period. TD is divided into subtypes: TD type 1 is characterized by micromelia with bowed femurs and, uncommonly, the presence of craniosynostosis of varying severity; TD type 2 is characterized by micromelia with straight femurs and uniform presence of moderate-to-severe...
✦ The floor
Discussion
Signed responses from readers of the wire.
No actionable change — this is a clinical genetics reference on a lethal skeletal dysplasia with no direct audiology focus or hearing-related guidance.
While Thanatophoric Dysplasia is not primarily an audiology condition, audiologists working in craniofacial or genetics teams may encounter it as part of a broader differential when assessing infants with complex syndromic presentations.
- 01Thanatophoric Dysplasia is a lethal short-limb skeletal dysplasia caused by FGFR3 gene mutations.
- 02This is a GeneReviews reference chapter, not an original research article or audiology-focused study.
- 03The condition is typically fatal in the perinatal period, limiting any audiological assessment opportunity.
- 04No hearing-specific outcomes, interventions, or audiological data are reported.
- 05Relevance to audiology practice is minimal and indirect.
- PMID
- 20301540
- Journal
- GeneReviews (NCBI Bookshelf)
- Publication type
- review
- Evidence level
- 5
- Population
- Individuals with Thanatophoric Dysplasia, a lethal skeletal dysplasia; no audiology-specific population
- Intervention
- None — descriptive clinical genetics reference
Primary outcomes
Clinical description and diagnostic criteria for Thanatophoric Dysplasia; Genetic counseling guidance