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]

In its final chapter 6, the imperative for reducing harmful use of alcohol in a public health perspective is presented. [who.int]

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]

All the patients presented skeletal abnormalities with various severities such as lumbar lordosis, hyperextensible joints, short thorax, square shoulders, hip dislocation, and prominent heels. [pubmed.ncbi.nlm.nih.gov]

• 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]

  stature/skeletal dysplasia (100.0% *) * % of the coding region of this gene has a coverage of >20x. [order.radboudumc.nl]

  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]

  Physicians should be aware of this entity in the differential diagnosis of children with severe short stature and mild skeletal changes. [jcrpe.org]

• Male Hypogonadism

  Male hypogonadism and hypospadias. [nature.com]

  Males with three M syndrome have hypogonadism and occasionally hypospadias. Diagnosis/testing. The diagnosis of three M syndrome is established in a proband with characteristic clinical and radiographic features. [ncbi.nlm.nih.gov]

• Developmental Delay

  Although Dubowitz syndrome is also inherited in an autosomal recessive manner, it can be differentiated from 3M by the presence of typical facial features, eczema, microcephaly, and developmental delay. [nature.com]

• Hirsutism

  Fetal alcohol syndrome: Microcephaly decreased subcutaneous fat, hirsutism, nail hypoplasia, facial appearance, and mental retardation with significant behavioural problems are the primary features, and these allow differentiation from 3M syndrome. [nature.com]

  […] disability Mulibrey nanism (OMIM 253250) TRIM37 AR IUGR IUGR often less severe than in infants w/3-M Characteristic facial features (high forehead, pseudo-hydrocephalic skull configuration) Fetal alcohol syndrome NA NA IUGR Microcephaly ↓ subcutaneous fat Hirsutism [ncbi.nlm.nih.gov]

• Eczema

  Although Dubowitz syndrome is also inherited in an autosomal recessive manner, it can be differentiated from 3M by the presence of typical facial features, eczema, microcephaly, and developmental delay. [nature.com]

  Dubowitz syndrome (OMIM 223370) Unknown AR IUGR Microcephaly Eczema Characteristic facial features (small face w/sloping forehead, broad nasal bridge, shallow supraorbital ridge, broad nasal tip, short palpebral fissures, telecanthus, ptosis, dysplastic [ncbi.nlm.nih.gov]

• Dolichocephaly

  In most cases, premature closure of fibrous joints (sagittal sutures) between certain bones (parietal bones) of the skull may restrict lateral growth of the head, causing it to appear abnormally long and narrow (dolichocephaly). [rarediseases.org]

• Lordosis

  All the patients presented skeletal abnormalities with various severities such as lumbar lordosis, hyperextensible joints, short thorax, square shoulders, hip dislocation, and prominent heels. [pubmed.ncbi.nlm.nih.gov]

• 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]

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]

Can I combine erectile dysfunction treatments? Your specific treatment plan will depend on the causes of your ED, and treatment options will be decided by your doctor. [healthline.com]

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]

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]

This can help to prevent damage that can lead to ED. Explore the connection between ED and type 2 diabetes. [healthline.com]

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]