Gorlin-Chaudhry-Moss Syndrome Clinical CharacteristicsOcular Features: Orbital hypoplasia, short, abnormally slanted (up or down) lid fissures, and sometimes lid notching (colobomas?) are characteristic facial features as are bushy eyebrows and synophrys. Lacrimal duct stenosis has been noted. The eyes are described as 'small' but no ophthalmological examination has been performed to document microphthalmia or other ocular anomalies. No mention is made of visual problems. Systemic Features: Premature closure of the coronal suture and midface hypoplasia lead to striking brachycephaly. The scalp hairline is low and scalp hair is abundant and coarse. In fact, hypertrichosis is seen throughout the body. Hypo- and microdontia with irregularly spaced teeth and a high arched palate are common features. Clefts of the soft palate has been observed. The ears can be small and rotated posteriorly. The labia majora are hypoplastic as are the distal phalanges of the fingers and toes. Mild syndactyly of the second and third fingers and toes have been described. The nails may be abormally small. Conductive hearing loss may be present. Growth and psychomotor development seem to be normal although some patients have been described to have a 'stocky' build. The facial features tend to coarsen over time. GeneticsAutosomal recessive inheritance has been suggested but nothing is known about the gene locus. All 5 reported patients have been female. Pedigree: Autosomal recessiveTreatmentTreatment Options: No treatment is known. ReferencesArticle Title: Gorlin-Chaudhry-Moss or Saethre-Chotzen syndrome Preis S, Kaewel EV, Majewski F. Gorlin-Chaudhry-Moss or Saethre-Chotzen syndrome? Clin Genet. 1995 May;47(5):267-9. PubMed ID: 7554354 Craniofacial dysostosis, hypertrichosis, genital hypoplasia, ocular, dental, and digital defects: confirmation of the Gorlin-Chaudhry-Moss syndrome Ippel PF, Gorlin RJ, Lenz W, van Doorne JM, Bijlsma JB. Craniofacial dysostosis, hypertrichosis, genital hypoplasia, ocular, dental, and digital defects: confirmation of the Gorlin-Chaudhry-Moss syndrome. Am J Med Genet. 1992 Nov 1;44(4):518-22. PubMed ID: 1442899 Read more about Gorlin-Chaudhry-Moss Syndrome
Gorlin-Chaudhry-Moss or Saethre-Chotzen syndrome Preis S, Kaewel EV, Majewski F. Gorlin-Chaudhry-Moss or Saethre-Chotzen syndrome? Clin Genet. 1995 May;47(5):267-9. PubMed ID: 7554354
Craniofacial dysostosis, hypertrichosis, genital hypoplasia, ocular, dental, and digital defects: confirmation of the Gorlin-Chaudhry-Moss syndrome Ippel PF, Gorlin RJ, Lenz W, van Doorne JM, Bijlsma JB. Craniofacial dysostosis, hypertrichosis, genital hypoplasia, ocular, dental, and digital defects: confirmation of the Gorlin-Chaudhry-Moss syndrome. Am J Med Genet. 1992 Nov 1;44(4):518-22. PubMed ID: 1442899
