Pilodental dysplasia-refractive errors syndrome

MedGen UID:: 376661
•Concept ID:: C1849805
•: Disease or Syndrome

Synonyms:	Pilodental dysplasia with refractive errors; Trichodental dysplasia with hyperopia
SNOMED CT:	Kopysc Barczyk Krol syndrome (771240009); Pilodental dysplasia, refractive errors syndrome (771240009); Euhidrotic ectodermal dysplasia (771240009)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0009873
OMIM®:	262020
Orphanet:	ORPHA2892

Definition

A rare ectodermal dysplasia syndrome with characteristics of dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985. [from SNOMEDCT_US]