Ohdo syndrome, Maat-Kievit-Brunner type
Última actualización 18 Aug 2020
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The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterised by intellectual disability and distinctive facial features. It has only been reported in males.
Descripción
The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterised 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 behavioural 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.
Patrones de herencia
The source lists the following possible inheritance patterns: X-linked recessive. More than one pattern can apply in different cases.
Related genes
Otros nombres
Blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type
BMRS, MKB type
Ohdo syndrome, MKB type
X-linked Ohdo syndrome
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Lecturas adicionales y referencias
- Ohdo syndrome, Maat-Kievit-Brunner type; MedlinePlus, National Library of Medicine.
- Maat-Kievit A, Brunner HG, Maaswinkel-Mooij P. Two additional cases of the Ohdo blepharophimosis syndrome. Am J Med Genet. 1993 Nov 1;47(6):901-6. doi: 10.1002/ajmg.1320470618.
- Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Heron D, Heron B, Benzacken B, Lacombe D, Brunner H, Bitoun P. Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. Am J Med Genet A. 2006 Jun 15;140(12):1285-96. doi: 10.1002/ajmg.a.31270.
- Vulto-van Silfhout AT, de Vries BB, van Bon BW, Hoischen A, Ruiterkamp-Versteeg M, Gilissen C, Gao F, van Zwam M, Harteveld CL, van Essen AJ, Hamel BC, Kleefstra T, Willemsen MA, Yntema HG, van Bokhoven H, Brunner HG, Boyer TG, de Brouwer AP. Mutations in MED12 cause X-linked Ohdo syndrome. Am J Hum Genet. 2013 Mar 7;92(3):401-6. doi: 10.1016/j.ajhg.2013.01.007. Epub 2013 Feb 7.
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