OMIM ID:
Oculootofacial Dysplasia
Alternate Names
Defective Genes
Clinical Characteristics
Ocular Features
Many patients have lower lid colobomas, sometimes with malformations of the zygoma. The palpebral fissures may appear narrow while some patients have a suggestion of hypertelorism.
Systemic Features
Neural development is normal but patients have significant facial dysmorphism. A variety of organ and bony malformations have been described. Cardiac septal defects and sometimes renal malformations may be present. The ears are large and are sometimes associated with preauricular tags. Cleft lip and/or palate with bifid uvula, micrognathia, high nasal bridge, large nose, a short philtrum, choanal atresia, and mixed hearing loss are often present. Choanal atresia is common.
Genetics
Inheritance
Biallelic loss-of-function mutations in the TXNL4A gene have been found in this presumed autosomal recessive condition.
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.