Preferred Label : Gorlin-chaudhry-moss syndrome;
Obsolete resource : true;
Moved to : 612289;
Alternative titles and symbols : Gcm syndrome; Craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora,; Dental and eye anomalies, patent ductus arteriosus, and normal intelligence;
Description : Gorlin et al. (1960) described sisters with this combination of features. The parents
were not known to be related. The same sisters were reported by Feinberg (1960) as
instances of the Weill-Marchesani syndrome (277600), which was clearly an incorrect
diagnosis. Gorlin (1977) has seen no further cases of this syndrome and knows of no
others in the literature. Ippel et al. (1992) provided follow-up of the 2 sisters
reported by Gorlin et al. (1960), G.G. and N.G., then aged 36 and 34, respectively.
Although there had been slight coarsening of the facial features with time, the overall
clinical picture had not changed. They reported 2 additional patients, both female,
aged 4 and 33 years. All 4 patients had conductive hearing loss, hypertrichosis, coarse
hair and low frontal hairline. The 2 new patients had very short distal phalanges
of fingers and toes. As in the original patients, G.G. and N.G. (as reported by Feinberg,
1960), the skeletal abnormalities included shortened metacarpals and distal phalanges.
Parental consanguinity has not been established in any of these patients. Preis et
al. (1995) pointed out phenotypic overlap between the GCM syndrome and the Saethre-Chotzen
syndrome (101400). *FIELD* RF 1. Feinberg, S. B.: Congenital mesodermal dysmorpho-dystrophy
(brachymorphic type). Radiology 74: 218-224, 1960. 2. Gorlin, R. J.: Personal Communication.
Minneapolis, Minn. 1977. 3. Gorlin, R. J.; Chaudhry, A. P.; Moss, M. L.: Craniofacial
dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora,
dental and eye anomalies--a new syndrome? J. Pediat. 56: 778-785, 1960. 4. Ippel,
P. F.; Gorlin, R. J.; Lenz, W.; van Doorne, J. M.; Bijlsma, J. B.: Craniofacial dysostosis,
hypertrichosis, genital hypoplasia, ocular, dental, and digital defects: confirmation
of the Gorlin-Chaudhry-Moss syndrome. Am. J. Med. Genet. 44: 518-522, 1992. 5. Preis,
S.; Kaewel, E.-V.; Majewski, F.: Gorlin-Chaudhry-Moss or Saethre-Chotzen syndrome?
Clin. Genet. 47: 267-269, 1995. *FIELD* CS Autosomal recessive;
Inheritance : Autosomal recessive;
Prefixed ID : 233500;
Origin ID : 233500;
UMLS CUI : C0345382;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
