Ruvalcaba Syndrome, also known as macrocephaly, mental retardation, and dysmorphic facies syndrome (MRDF), is a rare genetic disorder characterized by a combination of physical and developmental abnormalities. It is an autosomal dominant condition caused by mutations in the CREBBP gene.
Individuals with Ruvalcaba Syndrome typically exhibit macrocephaly, which refers to an abnormally large head size. This is often accompanied by intellectual disability or developmental delay. The severity of these cognitive impairments can vary widely among affected individuals.
In addition to macrocephaly and intellectual disability, individuals with Ruvalcaba Syndrome may have a distinct set of dysmorphic facial features. These can include a prominent forehead, wide-set eyes, low-set ears, a short nose with a broad nasal bridge, and a thin upper lip. Some individuals may also have limb abnormalities such as syndactyly (fusion of fingers or toes) or brachydactyly (short fingers or toes).
Due to the rarity of Ruvalcaba Syndrome, there is no specific ICD-10 code assigned to this condition. However, the individual symptoms and manifestations of the syndrome can be coded separately using the appropriate ICD-10 codes. For example, macrocephaly can be coded as Q75.3 (Other congenital malformations of skull and face bones), intellectual disability as F70-F79 (Intellectual disabilities), and dysmorphic facial features as Q87.0 (Congenital malformation syndromes predominantly affecting facial appearance).
In terms of ICD-9 codes, which are no longer in use, there was no specific code for Ruvalcaba Syndrome either. However, similar to ICD-10, the individual symptoms and manifestations could have been coded separately using the appropriate ICD-9 codes. For example, macrocephaly could have been coded as 756.0 (Anomalies of skull and face bones), intellectual disability as 317-319 (Mental retardation), and dysmorphic facial features as 759.89 (Other specified congenital anomalies).
It is important to note that the ICD codes mentioned above are just examples and should be used in consultation with a healthcare professional or medical coder for accurate coding and billing purposes.