Menke-Hennekam syndrome
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| Menke-Hennekam syndrome | |
|---|---|
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| Autosomal dominant pattern is the inheritance manner of this condition | |
| Specialty | Medical genetics |
| Causes | Mutations in the CREBBP gene |
Menke-Hennekam syndrome is a rare condition characterised by a constellation of lesions mostly involving the brain.
Signs and symptoms
[edit]The feature of this condition include
- Microcephaly
- Ventriculomegaly
- Absent corpus callosum
- Autistic behavior
- Feeding problems
- Epilepsy
- Variable intellectual disability
- Staphyloma
- Cochlear malformations
- Mild hearing impairment
- Exomphalos
- Short stature
- Recurrent upper airway infections
Genetics
[edit]This condition has been associated with mutations in the CREB binding protein gene (CREBBP). This gene is located on the short arm of chromosome 16 (16p13.3).
Pathopysiology
[edit]The pathogenesis of this condition is not understood.[citation needed]
Diagnosis
[edit]This syndrome may be suspected on clinical grounds. The diagnosis is established by sequencing the CREBBP gene.[citation needed]
Differential diagnosis
[edit]Treatment
[edit]There is no specific treatment for this condition. Management is supportive.[citation needed]
Epidemiology
[edit]This condition is considered to be rare with less than 20 cases reported in the literature.[citation needed]
History
[edit]This condition was first described in 2019.[1]
References
[edit]- ^ Banka S, Sayer R, Breen C, Barton S, Pavaine J, Sheppard SE, Bedoukian E, Skraban C, Cuddapah VA, Clayton-Smith J (2019) Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP. Am J Med Genet A