3M syndrome

A primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.

Postnatal growth retardation

Slow or limited growth after birth.


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PMID (PMCID)
28675896
 FEMALE Infant
Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome.
Liao L, Gan HW, Hwa V, Dattani M, Dauber A.
Horm Res Paediatr. 2017;88(5):364-370.
3-M syndrome is a rare growth disorder marked by severe pre- and postnatal growth retardation along with subtle dysmorphic features.
23457316
 MALE Infant
Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation.
Demir K, Altnck A, Bober E.
J Pediatr Endocrinol Metab. 2013;26(1-2):147-50.
3-M syndrome is an underdiagnosed autosomal recessive disorder characterized by severe pre- and postnatal growth retardation with minimal dysmorphic features and distinguishing radiological findings.
21166787
 MIXED_SAMPLE
Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome.
Sasaki K, Okamoto N, Kosaki K, Yorifuji T, Shimokawa O, Mishima H, Yoshiura KI, Harada N.
Clin Genet. 2011;80(5):478-83.
3M syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation that was recently reported to involve mutations in the CUL7 or obscurin-like 1 (OBSL1) genes.
3314510
 MIXED_SAMPLE
Further delineation of the 3-M syndrome with review of the literature.
Hennekam RC, Bijlsma JB, Spranger J.
Am J Med Genet. 1987;28(1):195-209.
The 3-M syndrome is a clinically recognizable disorder characterized by prenatal and postnatal growth retardation and a spectrum of consistent minor anomalies.