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]

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]

CUL7 was one of the 141 genes present in this region. Sanger sequencing of CUL7 gene detected a 2-bp novel deletion in the 15th exon (c.2943_2944delCT of the cDNA). [agris.fao.org]

Although it doesn’t wholly shut down production, it allows the present enzymes to keep one’s body in balance. Ultimately, the management of GD requires a multidisciplinary approach. [financialexpress.com]

• Short Stature

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

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

  Growth delays and immature bone development (growth retardation and delayed bone maturation) typically continue after birth (postnatally), leading to short stature (dwarfism) with proportional development of the arms and legs (as opposed to short stature [rarediseases.org]

  A rare cause of syndromic short stature: 3M syndrome in three families. Isik E, Arican D, Atik T, Ooi JE, Darcan S, Ozen S, Simsek Kiper PO, Utine E, Cogulu O, Ozkinay F. Isik E, et al. [pubmed.ncbi.nlm.nih.gov]

  Clinical features Short stature of prenatal onset [Lugli et al 2016]. Typical height is -5.0 SDS (standard deviation score) [Shapiro et al 2017]. Facial features. [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]

  In other people with this disorder, the head has an unusually long and narrow shape (dolichocephaly). Intelligence is unaffected by 3-M syndrome, and life expectancy is generally normal. [medlineplus.gov]

  Other findings include dolichocephaly, flattened coronal suture, narrowed intraorbital distance, elbow dysplasia, shortened ulna, pseudoepiphyses of the second metacarpal bone, dislocated hips, and prominent talus. [ncbi.nlm.nih.gov]

  Other findings include dolichocephaly, flattened coronal suture, narrowed intraorbital distance, elbow dysplasia, shortened ulna, pseudo-epiphyses of the second metacarpal bone, clinodactyly of the little fingers, dislocated hips, and prominent talus. [nature.com]

• Winged Scapula

  Musculoskeletal features present by early childhood variably include short broad neck, prominent trapezii, deformed sternum, short thorax, square shoulders, winged scapulae, and hyperlordosis. [ncbi.nlm.nih.gov]

  Additional features, such as a short broad neck, prominent trapezii, deformed sternum, short thorax, square shoulders, winged scapulae, hyperlordosis, dislocated hips, and short fifth fingers. Prominent heels and loose joints. [nature.com]

• 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]

• Frontal Bossing

  In addition, the forehead may be abnormally prominent (frontal bossing), and the face may be triangular shaped with a prominent, pointed chin. [rarediseases.org]

  In addition to short stature, people with 3-M syndrome have a triangle-shaped face with a broad, prominent forehead (frontal bossing) and a pointed chin; the middle of the face is less prominent (hypoplastic midface). [medlineplus.gov]

  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]

• Thick Lips

  Infants with three M syndrome have a relatively large head, triangular face, midface retrusion, thick eyebrows, fleshy nose tip, long philtrum, thick lips, and pointed chin. [ncbi.nlm.nih.gov]

• Delayed Bone Age

  Additional skeletal abnormalities, such as unusually slender long bones in the arms and legs; tall, narrow spinal bones (vertebrae); or slightly delayed bone age may be apparent in x-ray images. [medlineplus.gov]

  Signs & Symptoms Three M syndrome is an extremely rare inherited disorder characterized by low birth weight, delayed bone age, and short stature; characteristic malformations of the head and facial (craniofacial) area; and/or finger (digital) and/or skeletal [rarediseases.org]

  Full size image Skeletal changes were not consistently present at birth but occurred in the course of the disease, namely delayed bone age, slender long bones and tall vertebral bodies (Figures 1b and 2). [nature.com]

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]

A lifelong treatment, ERT is given once every 14 days as an intravenous infusion. [financialexpress.com]

Standard Therapies Treatment The treatment of Three M syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

The follow up is mainly orthopedic with possible GH-based treatment. [pubmed.ncbi.nlm.nih.gov]

Treatment with growth hormone is indicated in the presence of documented growth hormone (GH) deficiency, but treatment of children with normal serum concentration of growth hormone is experimental. [ncbi.nlm.nih.gov]

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

Immune cells, hepatocytes and osteoblasts are among other cells linked to disease pathophysiology. Gaucher cells (glucocerebroside-laden macrophages) that accumulate across the body characterise its multi-systemic disease manifestations. [financialexpress.com]

Additionally, in India, preventing the recurrence of GD through prenatal diagnosis and genetic counselling is imperative because of the consistently severe phenotypes that occur in the local populace. [financialexpress.com]

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]

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. [medlineplus.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]