trichodermodysplasia-dental alterations syndrome
http://purl.obolibrary.org/obo/MONDO_0018061
Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafC)-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986. [ Orphanet:3353 ]
Term info
- Orphanet:3353 (MONDO:equivalentTo)
- UMLS:C2931485 (Orphanet:3353)
- MESH:C537402 (MONDO:equivalentTo)
- GARD:0004369 (MONDO:equivalentTo)
ordo_malformation_syndrome
Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafC)-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.
http://identifiers.org/mesh/C537402, http://purl.obolibrary.org/obo/Orphanet_3353, http://linkedlifedata.com/resource/umls/id/C2931485
Pinheiro-Freire Maia-Miranda syndrome
Trichodermodysplasia with dental alterations, Pinheiro Freire-Maia Miranda syndrome
MONDO:0018061