Preferred Label : Ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly
of feet;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Wilson et al. (1989) described the single case of a 2-year-old girl with virtual absence
of body and scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of
the feet, and an unusual facial appearance consisting of dystopia canthorum, thickened
frenulum giving an appearance of slight median cleft of the upper lip (pseudocleft),
and a long, flat philtrum. The patient had 2 unaffected sibs, there was no parental
consanguinity, and the karyotype was normal. Some of the features resembled those
of OFD I (311200) and OFD II (252100), but the patient lacked cleft, tongue abnormalities,
and radiographic irregularities sometimes seen in OFD. Further, OFD patients do not
have the severe degree of alopecia that was present in this patient. *FIELD* RF 1.
Wilson, W. G.; Greer, K. E.; Martof, A. B.; McIlhenny, J.; Hatter, D. L.: 'New' ectodermal
dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of
feet. Am. J. Med. Genet. 34: 227-229, 1989. *FIELD* CS Isolated cases;
Inheritance : Isolated cases;
Prefixed ID : 129540;
Origin ID : 129540;
UMLS CUI : C1851851;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
