Menke-Hennekam syndrome (MKHK) is a novel syndrome caused by mutations in CREBBP and EP300. Although mutations in the same genes cause Rubinstein-Taybi syndrome [DS:H00504], MKHK patients didn't show the characteristics typical for Rubinstein-Taybi syndrome. The main characteristics of the MKHK are developmental delay, autistic behavior, short stature, and microcephaly.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H02650 Menke-Hennekam syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06523 Epigenetic regulation by Polycomb complexes
H02650 Menke-Hennekam syndrome