Menke-Hennekam Syndrome 1 (MKHK1)

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OMIM 56 618332 OMIM Phenotypic Series 56 PS618332 MeSH 43 D000015

MedGen 41 CN258217 EFO 17 EFO_0010252

UniProtKB/Swiss-Prot : ⁷³ Menke-Hennekam syndrome 1: A form of Menke-Hennekam syndrome, a congenital autosomal dominant disease characterized by developmental delay, growth retardation, and craniofacial dysmorphism. Patients have intellectual disability of variable severity, speech delay, autistic behavior, short stature and microcephaly. Main facial characteristics include short palpebral fissures, telecanthi, depressed nasal ridge, short nose, anteverted nares, short columella and long philtrum.

MalaCards based summary : Menke-Hennekam Syndrome 1, also known as mkhk1, is related to menke-hennekam syndrome 2. An important gene associated with Menke-Hennekam Syndrome 1 is CREBBP (CREB Binding Protein).

OMIM : ⁵⁶ Menke-Hennekam syndrome-1 (MKHK1) is a congenital disorder characterized by variable impairment of intellectual development and facial dysmorphisms. Feeding difficulties, autistic behavior, recurrent upper airway infections, hearing impairment, short stature, and microcephaly are also frequently seen. Although mutations in the same gene cause Rubinstein-Taybi syndrome-1 (RSTS1; 180849), patients with MKHK1 do not resemble the striking phenotype of RSTS1. (618332)

Clinical features from OMIM:

618332

Search Clinical Trials , NIH Clinical Center for Menke-Hennekam Syndrome 1

Search GEO for disease gene expression data for Menke-Hennekam Syndrome 1.