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Orphanet Journal of Rare Diseases

, 10:114

Clinical genetics and genomics


Meier-Gorlin syndrome MGS is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia-hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females and urogenital anomalies, such as cryptorchidism and hypoplastic labia minora and majora. Typical facial characteristics during childhood comprise a small mouth with full lips and micro-retrognathia. During ageing, a narrow, convex nose becomes more prominent. The diagnosis MGS should be considered in patients with at least two of the three features of the clinical triad of microtia, patellar anomalies, and pre- and postnatal growth retardation. In patients with short stature and-or microtia, the patellae should be assessed with care by ultrasonography before age 6 or radiography thereafter. Mutations in one of five genes ORC1, ORC4, ORC6, CDT1, and CDC6 of the pre-replication complex, involved in DNA-replication, are detected in approximately 67-78 % of patients with MGS. Patients with ORC1 and ORC4 mutations appear to have the most severe short stature and microcephaly.

Management should be directed towards in-depth investigation, treatment and prevention of associated problems, such as growth retardation, feeding problems, hearing loss, luxating patellae, knee pain, gonarthrosis, and possible pulmonary complications due to congenital pulmonary emphysema with or without broncho- or laryngomalacia. Growth hormone treatment is ineffective in most patients with MGS, but may be effective in patients in whom growth continues to decrease after the first year of life usually growth velocity normalizes after the first year and with low levels of IGF1. At present, few data is available about reproduction of females with MGS, but the risk of premature labor might be increased.

Here, we propose experience-based guidelines for the regular care and treatment of MGS patients.

KeywordsMeier-Gorlin syndrome Ear patella short stature syndrome Microtia Short stature Patellar a-hypoplasia Pre-replication complex Origin recognition complex AbbreviationsMGSMeier-Gorlin syndrome

IDIntellectual disability

ORC1Origin recognition complex subunit 1

ORC4Origin recognition complex subunit 4

ORC6Origin recognition complex subunit 6

CDT1Chromatin licensing and DNA replication factor 1

CDC6Cell division cycle 6

MOPDMicrocephalic osteodysplastic primordial dwarfism

Electronic supplementary materialThe online version of this article doi:10.1186-s13023-015-0322-x contains supplementary material, which is available to authorized users.

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Autor: Sonja A. de Munnik - Elisabeth H. Hoefsloot - Jolt Roukema - Jeroen Schoots - Nine VAM Knoers - Han G. Brunner - Andrew 


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