3M syndrome is an autosomal recessive disorder characterized by distinctive facial features, severe prenatal and postnatal growth retardation, and normal intelligence. Skeletal anomalies include long, slender tubular bones, reduced vertebral body diameter, and delayed bone age. Other manifestations are joint hypermobility, joint dislocation, winged scapulae, and pes planus. The disorder is caused by mutations in CUL7, OBSL1, or CCDC8 genes and is inherited in an autosomal recessive pattern. Diagnosis is based on clinical features, and treatment aims to address growth and skeletal issues. Life expectancy is generally normal, and intelligence is unaffected. Individuals with 3M syndrome have a triangle-shaped face with a broad forehead, pointed chin, large ears, full eyebrows, and other facial features. Additional skeletal abnormalities may include a short, broad neck, prominent shoulder blades, square shoulders, spinal curvature, clinodactyly, and loose joints. A variant called Yakut short stature syndrome has been identified in the Yakut population, with additional breathing problems in infancy.
Phenotype Information Associated with the Current Disease:
Categorization: Anatomical classification of the disease manifestations.
HPO Frequency/Orphanet Frequency: Indicates the probability of the manifestation occurring in the current disease, allowing sorting by probability.
HPO Source Accession: Links to HPO for detailed manifestation information.
Data Source: HPO, Orphanet
Gene & Mutation
Genes and Mutations Associated with the Current Disease:
Function: Primary biological roles of the genes.
Score: Indicates the strength of the association between the disease and the gene, with higher scores reflecting stronger associations.
Count: Number of mutations associated with the disease-gene pair. The number in parentheses represents the total data points linked to the same ClinVar ID. Clicking the number reveals mutation details.
Data Source: Clinvar
Related Drugs
Drugs Related to the Current Gene, Displaying CAS Number, Status and Phase.
Data Source: Clinical Trials
Related Mouse Models
Mouse Models Related to the Current Gene. Click on the model name to view detailed information.
Data Source: MGI, Cyagen
References Literature
Most Relevant Literature for the Current Gene, Filterable by Year, Article Type, and Sortable by Impact Factor.