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).
Tan-Almurshedi syndrome- MedGen UID:
- 1848300
- •Concept ID:
- C5882727
- •
- Disease or Syndrome
Tan-Almurshedi syndrome (TANALS) is an autosomal recessive neurodevelopmental disorder characterized by intrauterine growth retardation, poor overall growth with short stature and microcephaly, hypotonia, global developmental delay with impaired intellectual development, poor or absent speech, spasticity, and dysmorphic facial features (Westrip et al., 2023).