CLINICAL CHARACTERISTICS: The findings in EBP -related X-linked chondrodysplasia punctata ( EBP -CDPX) range from fetal demise with multiple malformations and severe growth deficiency to much milder manifestations, including females with no recognizable physical abnormalities. At least 95% of live-born individuals with EBP -CDPX are female....
Audiologists seeing patients with this rare genetic syndrome should include hearing assessment in the multidisciplinary workup, but this GeneReviews reference entry introduces no new clinical guidance beyond established genetic counseling practice.
Awareness of syndromic genetic conditions with hearing loss as a feature helps audiologists contribute appropriately to multidisciplinary care teams managing rare diseases.
- 01EBP-related X-linked chondrodysplasia punctata is a rare genetic disorder caused by mutations in the EBP gene.
- 02Clinical features include skeletal abnormalities, skin changes, cataracts, and potentially hearing loss.
- 03Hearing loss is one of several possible features and its prevalence within the syndrome is not well quantified in brief summaries.
- 04The condition predominantly affects females due to X-linked inheritance patterns.
- 05This is a GeneReviews reference entry (expert-curated summary), not a primary research study.
Hearing loss can be a clinical feature of EBP-related X-linked chondrodysplasia punctata.
guidelinesupported- PMID
- 21634086
- Journal
- GeneReviews (NCBI Bookshelf)
- Publication type
- review
- Evidence level
- 5
- Population
- Individuals with EBP gene mutations presenting with X-linked chondrodysplasia punctata
- Intervention
- Characterisation of clinical features of EBP-related X-linked chondrodysplasia punctata
Primary outcomes
Description of clinical characteristics including hearing loss; Genotype-phenotype correlations for EBP mutations