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Oculodentodigital Dysplasia phenotype curation notes

Date: 2026-04-19 Curator: Codex Scope: Phenotype section only for kb/disorders/Oculodentodigital_Dysplasia.yaml

PMIDs used

  • PMID:19338053 Supports characteristic nasal morphology (narrow nose, hypoplastic alae nasi) and the broader neurologic spectrum (dysarthria, spastic paraparesis, neurogenic bladder disturbances, ataxia, seizures), plus conductive hearing loss and generic skin/hair/nail anomalies.
  • PMID:32318302 Supports the core ocular phenotype and review-level ocular prominence: microcornea, microphthalmia, short palpebral fissures, and glaucoma.
  • PMID:34035645 Adds glaucoma-specific severity context from a literature review subset: glaucoma in 31/116 ocularly affected individuals, with most cases in patients >=10 years old.
  • PMID:36990989 Supports the expanded dental phenotype (enamel hypoplasia, enamel hypomineralization, microdontia, pulp stones, curved roots, taurodontism) and provides direct support for camptodactyly.
  • PMID:29927410 Supports the characteristic digital pattern (IV-V or III-V finger syndactyly) and later-life neurologic manifestations (spastic paraparesis, neurogenic bladder/bowel, ataxia, white matter lesions on MRI).
  • PMID:31023660 Supports neuroimaging evidence for cerebral white matter abnormalities consistent with hypomyelination in neurologically affected ODDD patients.
  • PMID:12457340 Retained as phenotype support for non-universal conductive hearing impairment.

Key curation decisions

  • Split the previous combined nasal phenotype into separate Narrow nose and Hypoplastic alae nasi entries to improve HPO specificity.
  • Replaced weak ocular support with review-backed ocular phenotype evidence.
  • Expanded dental phenotypes using the 2023 systematic dental review rather than retaining broad, weakly supported summary claims.
  • Replaced the general finger syndactyly term with HP:0010705 (4-5 finger cutaneous syndactyly) because the published ODDD literature repeatedly emphasizes the fourth/fifth finger pattern.
  • Switched the neurologic motor phenotype from spastic paraplegia to spastic paraparesis to match the exact wording of the phenotype-focused neurologic literature.
  • Added CNS hypomyelination to capture the clinically important MRI phenotype in neurologically affected cases.

Claims intentionally removed or softened

  • Removed phenotype entries for Sparse hair and Dry skin because the available abstract-level support was too weak or nonspecific for those exact HPO terms.
  • Softened the disease description from specific sparse hair to broader skin/hair/nail anomalies, which is directly supported by PMID:19338053.
  • Removed unsupported frequency claims from ocular, neurologic, auditory, and skin phenotypes unless frequency wording was directly supported in the cited abstract.