Preferred Label : Fraser-like syndrome;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : Fused eyelids, airway anomalies, ovarian cysts, and digital anomalies;
Description : In an infant brother and sister born of unrelated parents, Mena et al. (1991) observed
a similar and possibly unique set of congenital malformations. These included fused
eyelids, craniofacial anomalies, ovarian cyst (in the female), subglottic stenosis,
and specific digital abnormalities. Both infants had extension of metacarpophalangeal
joints with flexion of the proximal interphalangeal joint of both index fingers with
resulting overlap of the second digit over the third. Similar changes were noted in
both second toes. Mena et al. (1991) concluded that the findings, although similar
to those in the Fraser syndrome (219000), were sufficiently different to justify recognition
as a distinct entity. *FIELD* RF 1. Mena, W.; Krassikoff, N.; Philips, J. B., III:
Fused eyelids, airway anomalies, ovarian cysts, and digital abnormalities in siblings:
a new autosomal recessive syndrome or a variant of Fraser syndrome? Am. J. Med. Genet.
40: 377-382, 1991. *FIELD* CS;
Inheritance : Autosomal recessive;
Prefixed ID : 229230;
Origin ID : 229230;
UMLS CUI : C1856708;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
