OMIM ID:
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features
Alternate Names
Defective Genes
Clinical Characteristics
Ocular Features
The facial dysmorphism is present at birth together with the cleft palate. Downslanting lid fissures, widely spaced eyes, and ptosis may be present. Eyebrows have been described as sparse in one patient. Strabismus and ocular apraxia are present in some children.
Systemic Features
Three patients have been reported, one of whom also had a second deletion in a gene implicated in the Kabuki syndrome. This individual had hypertrichosis and synophyrys whereas the others had sparse eyebrow and temporal hair. The teeth are malformed with some conically shaped and widely spaced. The forehead is prominent and the fingers are tapered and brachydactylous with 5th finger clinodactyly.
There are significant delays in achieving developmental milestones. Hypotonia has been described. Speech and walking in particular may be delayed for several years. Physical growth may be delayed as well. A variety of brain anomalies have been seen in some but not all individuals. Hypospadius and cryptorchidism have been described. All children reported have palatal anomalies.
Genetics
Inheritance
Heterozygous mutations in the KDM1A gene have been identified in two patients. In another report a single patient had an out-of-frame 3-nucleotide deletion in the ANKRD11 gene (as sometimes found in Kabuki syndrome) plus a mutation in the KDM1A gene.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission