U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Ectodermal dysplasia 6, hair/nail type(ECTD6)

MedGen UID:
767025
Concept ID:
C3554111
Disease or Syndrome
Synonym: ECTD6
 
Monarch Initiative: MONDO:0013974
OMIM®: 614928

Definition

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. [from OMIM]

Clinical features

From HPO
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Dystrophic toenail
MedGen UID:
318813
Concept ID:
C1833225
Finding
Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.
Thin toenail
MedGen UID:
767027
Concept ID:
C3554113
Finding
Toenail that appears thin when viewed on end.
Hair-nail ectodermal dysplasia
MedGen UID:
870434
Concept ID:
C4024880
Anatomical Abnormality
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.

Recent clinical studies

Etiology

Cadieux-Dion M, Safina NP, Engleman K, Saunders C, Repnikova E, Raje N, Canty K, Farrow E, Miller N, Zellmer L, Thiffault I
BMC Med Genet 2018 Mar 9;19(1):41. doi: 10.1186/s12881-018-0556-2. PMID: 29523099Free PMC Article
Habib R, Ansar M, Mattheisen M, Shahid M, Ali G, Ahmad W, Betz RC
PLoS One 2015;10(6):e0129811. Epub 2015 Jun 26 doi: 10.1371/journal.pone.0129811. PMID: 26115030Free PMC Article

Diagnosis

Cadieux-Dion M, Safina NP, Engleman K, Saunders C, Repnikova E, Raje N, Canty K, Farrow E, Miller N, Zellmer L, Thiffault I
BMC Med Genet 2018 Mar 9;19(1):41. doi: 10.1186/s12881-018-0556-2. PMID: 29523099Free PMC Article
Habib R, Ansar M, Mattheisen M, Shahid M, Ali G, Ahmad W, Betz RC
PLoS One 2015;10(6):e0129811. Epub 2015 Jun 26 doi: 10.1371/journal.pone.0129811. PMID: 26115030Free PMC Article

Clinical prediction guides

Habib R, Ansar M, Mattheisen M, Shahid M, Ali G, Ahmad W, Betz RC
PLoS One 2015;10(6):e0129811. Epub 2015 Jun 26 doi: 10.1371/journal.pone.0129811. PMID: 26115030Free PMC Article

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...