OMIM ID:
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Alternate Names
Defective Genes
Clinical Characteristics
Ocular Features
Patients have been described as having variable oculofacial features including epicanthal folds, hypertelorism, strabismus, and ‘tapetoretinal degeneration’.
Systemic Features
The full phenotype is variable and unknown based on the 5 reported patients from 4 families of whom 3 were consanguineous. Recurrent infections (especially respiratory and otitis media) seem to be among the most consistent features. Others include intrauterine growth retardation, developmental delay including psychomotor delays, a flat midface with various anomalies, low-set ears, renal dysgenesis, polydactyly, severe agammaglobulinemia, hypospadias, and cryptorchidism. Normal T-cell function and normal B cells are present. Conductive hearing loss, polydactyly, and scoliosis may be features as well. Two of the 5 reported patients with ICF3 were reported to have mental retardation. One patient died at the age of 26 years.
Genetics
Inheritance
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.