Preferred Label : Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : Bork syndrome;
Description : Bork et al. (1987) reported a new type of ectodermal dysplasia with congenital hypotrichosis
and uncombable hair, associated with juvenile cataracts, retinal pigmentary dystrophy,
oligodontia, and brachymetacarpy. The condition was inherited as an autosomal dominant.
Silengo et al. (1993) reported an isolated case. They illustrated the presence of
supernumerary inferior lateral incisors and microdontia. The patient was mildly retarded.
Scanning electron microscopy showed the presence of longitudinal grooves giving the
typical appearance of pili canaliculi. Uncombable hair occurs as an isolated trait
inherited as an autosomal dominant (191480). The uncombable hair is also referred
to as 'spun-glass' hair. *FIELD* RF 1. Bork, K.; Stender, E.; Schmidt, D.; Berzas,
C.; Rochels, R.: Familiaere kongenitale Hypotrichose mit 'unkaemmbaren Haaren,' Retina-pigmentblattdystrophie,
juveniler Katarakt und Brachymetakarpie: eine weitere Entitaet aus der Gruppe der
ektodermalen Dysplasien. Hautarzt 38: 342-347, 1987. 2. Silengo, M.; Lerone, M.; Romeo,
G.; Calcagno, E.; Martucciello, G.; Jasonni, V.: Uncombable hair, retinal pigmentary
dystrophy, dental anomalies, and brachydactyly: report of a new patient with additional
findings. Am. J. Med. Genet. 47: 931-933, 1993. *FIELD* CS Autosomal dominant;
Inheritance : Autosomal dominant;
Prefixed ID : 191482;
Origin ID : 191482;
UMLS CUI : C1860605;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
