The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.
The intellectual disability associated with this condition varies from mild to severe, and the development of motor skills (such as sitting, standing, and walking) is delayed. Some affected individuals also have behavioral problems.
Distinctive facial features often seen in this condition include a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), prominent cheeks, a broad nasal bridge, a nose with a rounded tip, a large space between the nose and upper lip (a long philtrum), and a narrow mouth. Some affected individuals also have widely set eyes (hypertelorism), an unusually small chin (micrognathia), and small and low-set ears. As people with the condition get older, these facial characteristics become more pronounced and the face becomes more triangular.
Other possible signs of this condition include dental problems, weak muscle tone (hypotonia), and hearing loss.
Inheritance Pattern
X-linked recessive
Other Names
Blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type; BMRS, MKB type; Ohdo syndrome, MKB type; X-linked Ohdo syndrome
Related Genetics Topics
- MED12 — MedlinePlus Genetics
Identifiers
- GTR: C3698541
- MeSH: D000015
- OMIM: 300895
- SNOMED CT: 699297004
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
