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Split hand - split foot - deafness
1 OMIM reference -
1 associated gene
9 connected diseases
No signs/symptoms info
Disease Type of connection
Craniosynostosis, Boston type
Parietal foramina
Parietal foramina with cleidocranial dysplasia
Hypodontia - dysplasia of nails
Oligodontia
Kallmann syndrome
Neurologic Waardenburg-Shah syndrome
Waardenburg syndrome type 2
Waardenburg-Shah syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: unknown
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
DLX5 P56178600028
No signs/symptoms info available.