OMIM ID:
Orofaciodigital Syndrome IX
Alternate Names
Defective Genes
Clinical Characteristics
Ocular Features
Multiple forms of orofaciodigital syndrome are recognized but this one (type IX, originally reported as VIII) is of ophthalmological interest because of the retinal anomalies. Gurrieri’s original report calls these “retinochoroideal lacunae of colobomatous origin” similar to those found in Aicardi syndrome (304050). These were further described as hypopigmented and atrophic appearing. Synophyrs and hypertelorism have been noted and the ears may be low-set.
Systemic Features
Facial, oral, digital, psychomotor delays, and skeletal anomalies are major systemic features of OFD IX. The oral manifestations include a high arched palate, cleft lip (sometimes subtle), bifid tongue, hemartomas on the tongue, abnormal tongue frenulation, and dental anomalies (supernumerary teeth). Digital anomalies consist of mild syndactyly and occasionally polydactyly, brachydactyly, and bifid large toes. Some patients have short stature. Psychomotor delay is common and some patients have been described as mentally retarded.
Genetics
Inheritance
This is most likely an autosomal recessive condition since multiple sibs of both sexes have been identified. Nothing is known of the locus or specific mutation.
Gurrieri’s name is attached to another syndrome (Gurrieri syndrome [601187]) with entirely different oculoskeletal features.
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.