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Ectodermal dysplasia 8, hair/tooth/nail type(ECTD8)

MedGen UID:
764338
Concept ID:
C3551424
Disease or Syndrome
Synonym: Fried's tooth and nail syndrome
 
Monarch Initiative: MONDO:0011219
OMIM®: 602401
Orphanet: ORPHA99672

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-8 is an autosomal recessive disorder characterized by abnormal development of hair, teeth, and nails. [from OMIM]

Clinical features

From HPO
Macrodontia
MedGen UID:
82729
Concept ID:
C0266036
Finding
Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.
Agenesis of permanent teeth
MedGen UID:
224851
Concept ID:
C1290511
Congenital Abnormality
A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.
Irregular dentition
MedGen UID:
347297
Concept ID:
C1856765
Finding
Sparse scalp hair
MedGen UID:
346499
Concept ID:
C1857042
Finding
Decreased number of hairs per unit area of skin of the scalp.
Aplasia/Hypoplasia of the eyebrow
MedGen UID:
892938
Concept ID:
C4021956
Finding
Absence or underdevelopment of the eyebrow.
Hypohidrosis
MedGen UID:
43796
Concept ID:
C0020620
Disease or Syndrome
Abnormally diminished capacity to sweat.
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.
Dystrophic fingernails
MedGen UID:
764340
Concept ID:
C3551426
Finding
The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.
Sparse or absent eyelashes
MedGen UID:
764345
Concept ID:
C3551431
Finding
Hair-nail ectodermal dysplasia
MedGen UID:
870434
Concept ID:
C4024880
Anatomical Abnormality

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEctodermal dysplasia 8, hair/tooth/nail type

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