Odonto-onycho-dermal dysplasia- MedGen UID:
- 208666
- •Concept ID:
- C0796093
- •
- Disease or Syndrome
Odontoonychodermal dysplasia (OODD) is an autosomal recessive disorder characterized by dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, hyperkeratosis of the palms and soles, hypo- and hyperhidrosis of the skin, and atrophic patches on the face (summary by Adaimy et al., 2007; Yu et al., 2019).
Trichothiodystrophy 5, nonphotosensitive- MedGen UID:
- 899675
- •Concept ID:
- C4225420
- •
- Disease or Syndrome
Trichothiodystrophy-5 (TTD5) is an X-linked disorder characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities (summary by Mendelsohn et al., 2020).
For a general phenotypic description and a discussion of genetic heterogeneity of trichothiodystrophy, see TTD1 (601675).