3M syndrome 3

3M syndrome 3 is a developmental disorder characterized primarily by markedly short stature, low body weight, and distinctive facial features, all stemming from mutations in the CCDC8 gene. This condition is caused by alterations in the CCDC8 gene and follows an autosomal recessive inheritance pattern, meaning that an affected individual inherits an altered copy from each parent. Precise prevalence data is not available, and while symptoms are typically evident from birth with features such as small size for gestational age and growth delay, outcomes depend on individual factors.

The clinical presentation of 3M syndrome 3 is marked by a consistent pattern of features that primarily affect growth and skeletal development. Almost all affected individuals exhibit decreased body weight, short stature, a prominent nasal tip, prominent calcaneus, and a short thorax, along with being small for gestational age and experiencing growth delay. In addition, many individuals may display frontal bossing, hyperlordosis, protruding ears, hip dysplasia, microcephaly, a short neck, increased vertebral height, midface retrusion, triangular facies, a pointed chin, and anteverted nares. Less common findings include a slender phenotype of the long bones, dolichocephaly, joint hypermobility, a long philtrum, and clinodactyly of the fifth finger. Not all individuals experience all features, and severity varies considerably.

3M syndrome 3 is caused by pathogenic variants in the CCDC8 gene. This gene plays a critical role in normal growth and development, and its disruption leads to the characteristic features of the syndrome. The condition is inherited in an autosomal recessive pattern, which means that each parent contributes one copy of the mutated gene. Families are encouraged to pursue genetic counseling to better understand the implications of this inheritance pattern for future pregnancies.

Management of 3M syndrome 3 centers on supportive care and symptom management, as there are currently no FDA-approved or foundational therapies specifically for this condition. Treatment is individualized and typically involves a multidisciplinary team, including pediatricians, endocrinologists, and other specialists who are experienced with growth disorders. Regular surveillance is an essential part of long-term care, helping to identify potential complications early. Patients and families are advised to engage in genetic counseling to discuss treatment options and long-term management strategies, with care tailored to the evolving clinical picture.

The long-term outlook for individuals with 3M syndrome 3 varies greatly depending on the severity of symptoms and the availability of multidisciplinary care. Although growth challenges are a consistent feature, many individuals continue to reach adulthood and benefit from ongoing supportive interventions. Outcomes described in medical literature continue to evolve as standards of care improve, and families often find it helpful to connect with genetic counselors and specialists familiar with managing complex growth disorders. Variability in symptoms means that while some may experience stable conditions after early childhood, others might require adjustments in care as they grow.

Clinical trials are underway exploring new treatment approaches for 3M syndrome 3. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their healthcare team about eligibility, as ongoing research continues to investigate potential therapies that might improve long-term outcomes.