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Menke-Hennekam syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Menke Hennekam syndrome
SNOMED CT: Menke Hennekam syndrome (1260095004)
Related genes: EP300, CREBBP
Monarch Initiative: MONDO:0020774
OMIM® Phenotypic series: PS618332
Orphanet: ORPHA592574


A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability, developmental delay, autistic behavior, short stature and microcephaly. Additional variable manifestations include feeding problems, vision and hearing impairments, recurrent upper airway infections and epilepsy. Reported malformations are cryptorchidism and cerebral anomalies. Dysmorphic facial features include short and upslanted palpebral fissures, ptosis, telecanthus, depressed nasal ridge, short nose, anteverted nares, short columella and long philtrum. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies


Cogan G, Bourgon N, Borghese R, Julien E, Jaquette A, Stos B, Achaiaa A, Chuon S, Nitschke P, Fourrage C, Stirnemann J, Boutaud L, Attie-Bitach T
Mol Genet Genomic Med 2023 Sep;11(9):e2219. Epub 2023 Jun 23 doi: 10.1002/mgg3.2219. PMID: 37353886Free PMC Article
Nishi E, Takenouchi T, Miya F, Uehara T, Yanagi K, Hasegawa Y, Ueda K, Mizuno S, Kaname T, Kosaki K, Okamoto N
Am J Med Genet A 2022 Feb;188(2):446-453. Epub 2021 Oct 15 doi: 10.1002/ajmg.a.62533. PMID: 34652060
Banka S, Sayer R, Breen C, Barton S, Pavaine J, Sheppard SE, Bedoukian E, Skraban C, Cuddapah VA, Clayton-Smith J
Am J Med Genet A 2019 Jun;179(6):1058-1062. Epub 2019 Mar 20 doi: 10.1002/ajmg.a.61131. PMID: 30892814

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