TEST CHARACTERISTICS 2.1 Analytical sensitivity (proportion of positive tests if the genotype is present) Not applicable. 2.2 Analytical specificity (proportion of negative tests if the genotype is not present) Not applicable. 2.3 Clinical sensitivity [nature.com]

Acronym 3M3 Synonyms 3M syndrome-3 Three M syndrome 3 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

In this report, we present four children (3 males, 1 female) from two families who were aged between 4 11/12 and 10 11/12 years and had clinical findings of 3M syndrome. [mendeley.com]

The purpose of the present work was to analyse the cortical OR through chemosensory event-related potentials (CSERPs) and power spectra calculated by electroencephalogram (EEG) signals recorded in 3M infants: two twins (3M-N) and an additional subject [mdpi.com]

Clinical description Infants present with severe postnatal (and prenatal) growth retardation, usually associated with a low birth weight (<2nd centile). [orpha.net]

• Short Stature

  Physicians should be aware of this entity in the differential diagnosis of children with severe short stature and mild skeletal changes. © Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing. 3m syndrome Short stature [mendeley.com]

  3-M syndrome is a disorder that causes skeletal abnormalities including short stature (dwarfism) and unusual facial features. [ghr.nlm.nih.gov]

  Description 3-M syndrome is a disorder that causes skeletal abnormalities including short stature (dwarfism) and unusual facial features. [medlineplus.gov]

  Summary Summary 3M syndrome is a growth disorder that causes short stature, characteristic facial features, and skeletal abnormalities. [rarediseases.info.nih.gov]

  Prognosis (please describe): Short stature (−5 to −6 s.d.) [nature.com]

• Large Hand

  Mulibrey nanism: includes prenatal and postnatal growth deficiency with relatively large hands, triangular faces with frontal bossing and depressed nasal bridge, small tongue, yellowish dots on the fundus, and pericardial constriction. [nature.com]

• Short Neck

  neck Decreased length of neck 0000470 Short stature Decreased body height Small stature [ more ] 0004322 Slender long bone Long bones slender Thin long bones [ more ] 0003100 Thick eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows [rarediseases.info.nih.gov]

• Bulbous Nose

  Upturned nostrils [ more ] 0000463 Broad forehead Increased width of the forehead Wide forehead [ more ] 0000337 Bulbous nose 0000414 Delayed skeletal maturation Delayed bone maturation Delayed skeletal development [ more ] 0002750 Everted lower lip [rarediseases.info.nih.gov]

• Depressed Nasal Bridge

  Mulibrey nanism: includes prenatal and postnatal growth deficiency with relatively large hands, triangular faces with frontal bossing and depressed nasal bridge, small tongue, yellowish dots on the fundus, and pericardial constriction. [nature.com]

Treatment The resources below provide information about treatment options for this condition. [rarediseases.info.nih.gov]

In general, the response to treatment is modest, however a trial of treatment over 1 year (GH doses of 35-45 microgram/kg/day with monitoring of serum IGF-I levels) may show a reasonable response. In this case, r-hGH should be continued long-term. [orpha.net]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

One of these patients had received growth hormone (GH) treatment which was discontinued due to an inadequate height gain. [mendeley.com]

Treatment is aimed at addressing the growth and skeletal problems and may include surgical bone lengthening, adaptive aids, and physical therapy. [en.wikipedia.org]

Prognosis 3M syndrome is not a life-threatening condition and the prognosis is good. The documents contained in this web site are presented for information purposes only. [orpha.net]

The issues of fertility should be discussed with male patients at the end of puberty and semen analysis offered.[4] 3-M syndrome is not a life-treating condition and the prognosis is good. [en.wikipedia.org]

Prognosis (please describe): Short stature (−5 to −6 s.d.) [nature.com]

Etiology Mutations in the CUL7 gene (6p21.1) are most often responsible for 3M syndrome (67% of cases). Other causal mutations include those in the OBSL1 gene (2q35), in 28% of cases, or the CCDC8 gene (19q13.33), in 5% of cases. [orpha.net]

Summary Epidemiology Approximately 200 cases have been reported to date but as the condition is likely under-recognized, the true figure is probably higher. [orpha.net]

If the test result is positive (please describe): If the test result is negative (please describe): Yes for management of the growth retardation and prevention of recurrence if positive. [nature.com]

Knowing more about the underlying mechanism can reveal new possibilities for treatment and prevention of genetic disorders like 3-M syndrome. [en.wikipedia.org]

Mutations in the CUL7 or OBSL1 gene prevent the cullin-7 protein from bringing together the components of the E3 ubiquitin ligase complex, interfering with the process of tagging unneeded proteins for degradation. [ghr.nlm.nih.gov]

Evaluation of Relatives at Risk It is appropriate to evaluate apparently asymptomatic younger sibs of a proband and at-risk relatives in order to identify as early as possible those who would benefit from prompt initiation of treatment and preventive [ncbi.nlm.nih.gov]