loading...| Preferred Name |
Pilodental dysplasia-refractive errors syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_2892 |
| alternative_term |
Euhidrotic ectodermal dysplasia Kopysc-Barczyk-Krol syndrome |
| definition |
Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by 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. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2892 |
| has_age_of_onset |
Neonatal Infancy |
| has_inheritance |
Autosomal recessive |
| hasDbXref |
OMIM:262020 ICD-11:LD27.0Y ICD-10:Q82.4 UMLS:C1849805 |
| label |
Pilodental dysplasia-refractive errors syndrome |
| notation |
ORPHA:2892 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_183580 |
| prefixIRI |
ORDO:Orphanet_2892 |
| prefLabel |
Pilodental dysplasia-refractive errors syndrome |
| present_in |
Worldwide AND has_cases/families_value : 2.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_183580 |
| subClassOf |