Tooth agenesis, selective, 4- MedGen UID:
- 372057
- •Concept ID:
- C1835492
- •
- Disease or Syndrome
Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene.
Oligodontia-cancer predisposition syndrome- MedGen UID:
- 324868
- •Concept ID:
- C1837750
- •
- Neoplastic Process
Oligodontia-cancer predisposition syndrome is a rare, genetic, odontologic disease characterized by congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated.
Onychotrichodysplasia and neutropenia- MedGen UID:
- 340512
- •Concept ID:
- C1850316
- •
- Disease or Syndrome
Faciocardiomelic syndrome- MedGen UID:
- 436265
- •Concept ID:
- C2674798
- •
- Disease or Syndrome
Hypotrichosis 14- MedGen UID:
- 1648477
- •Concept ID:
- C4748930
- •
- Disease or Syndrome
Hypotrichosis-14 (HYPT14) is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair (Romano et al., 2018).
For a discussion of genetic heterogeneity of hypotrichosis, see HYPT1 (605389).