OMIM ID:
Gorlin-Chaudhry-Moss Syndrome
Alternate Names
Defective Genes
Clinical Characteristics
Ocular 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.
Genetics
Inheritance
Autosomal recessive inheritance has been suggested but nothing is known about the gene locus. All 5 reported patients have been female.
Pedigree
Autosomal recessive
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.