Growth mental deficiency syndrome of Myhre

A rare hereditary autosomal dominant disorder characterized by intellectual disability and facial abnormalities that include MICROCEPHALY, midface hypoplasia, PROGNATHISM, and BLEPHAROPHIMOSIS. Skeletal anomalies include short stature, square body shape, broad ribs, iliac hypoplasia, BRACHYDACTYLY, flattened vertebrae, and thickened CALVARIA. Other features, such as congenital heart disease, may also occur. All reported cases have been sporadic. Mutations in the SMAD4 gene have been identified. OMIM: 139210

Also Known As:

Networked: 14 relevant articles (2 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Retinitis Pigmentosa (Pigmentary Retinopathy)
2.	Prognathism
3.	Pleural Effusion (Pleural Effusions)
4.	Pericarditis
5.	Macular Degeneration (Age-Related Maculopathy)

Experts

1.	Tolmie, John: 3 articles (08/2014 - 11/2011)
2.	Brunetti-Pierri, Nicola: 2 articles (01/2021 - 08/2014)
3.	Melis, Daniela: 2 articles (01/2021 - 08/2014)
4.	Afenjar, Alexandra: 2 articles (10/2012 - 12/2011)
5.	Héron, Delphine: 2 articles (10/2012 - 12/2011)
6.	Di Cesare, Tiziana: 1 article (08/2021)
7.	Di Nardo, Walter: 1 article (08/2021)
8.	Girotto, Giorgia: 1 article (08/2021)
9.	Rossi, Giorgia: 1 article (08/2021)
10.	Caiazza, Martina: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Growth mental deficiency syndrome of Myhre:

1.	Losartan (Cozaar)FDA LinkGeneric 08/01/2014 - "SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan." 01/01/2021 - "A pilot clinical trial with losartan in Myhre syndrome."
2.	Growth Hormone (Somatotropin)IBA 01/01/2021 - "We report the case of a Chinese boy with Myhre syndrome presenting with a novel symptom of giant testicles where treatment with growth hormone combined with letrozole successfully improved his short stature. " 01/01/2021 - "Case Report: Improved Height in a Patient With Myhre Syndrome Using a Combination of Growth Hormone and Letrozole." 01/01/2021 - "This case shows that letrozole combined with growth hormone can improve height in children with Myhre syndrome without adverse effects."
3.	Letrozole (Femara)FDA LinkGeneric 01/01/2021 - "We report the case of a Chinese boy with Myhre syndrome presenting with a novel symptom of giant testicles where treatment with growth hormone combined with letrozole successfully improved his short stature. " 01/01/2021 - "Case Report: Improved Height in a Patient With Myhre Syndrome Using a Combination of Growth Hormone and Letrozole." 01/01/2021 - "This case shows that letrozole combined with growth hormone can improve height in children with Myhre syndrome without adverse effects."
4.	Transforming Growth Factors (Transforming Growth Factor)IBA 12/11/2011 - "Using exome sequencing of individuals with Myhre syndrome, we identified SMAD4 as a candidate gene that contributes to this syndrome on the basis of its pivotal role in the bone morphogenetic pathway (BMP) and transforming growth factor (TGF)-β signaling. " 04/01/2016 - "Myhre syndrome and the allelic laryngeal stenosis, arthropathy, prognathism and short stature syndrome are caused by a missense mutation of SMAD4, resulting in altered expression of transforming growth factor β and bone morphogenic protein, affecting cell growth and differentiation. "
5.	Proteins (Proteins, Gene)FDA Link 01/01/2021 - "Myhre syndrome (MS) is an ultra-rare disorder due to pathogenic variants in the SMAD4 gene that encodes a protein regulating the TGF-β pathway and extra-cellular matrix (ECM) homeostasis. " 04/01/2016 - "Myhre syndrome and the allelic laryngeal stenosis, arthropathy, prognathism and short stature syndrome are caused by a missense mutation of SMAD4, resulting in altered expression of transforming growth factor β and bone morphogenic protein, affecting cell growth and differentiation. "
6.	Smad4 ProteinIBA 11/01/2022 - "It is caused by germline variants in the transcriptional co-regulator SMAD4 that localize at two positions within the SMAD4 protein, I500 and R496, with I500 V/T/M variants more commonly identified in individuals with Myhre syndrome. "
7.	Smad Proteins (Mothers Against Decapentaplegic Homolog)IBA 11/01/2022 - "Our findings not only provide novel insights into the mechanism of Myhre syndrome pathogenesis but also extend the current knowledge of how pathogenic variants in SMAD proteins cause disease."
8.	Interleukin-1 Receptors (Interleukin 1 Receptor)IBA 05/01/2013 - "Here we describe a 7-year-old boy with a molecularly proven Myhre syndrome who presented life-threatening recurrent pericarditis and systemic inflammatory symptoms that required treatment with steroid and recombinant interleukin-1 receptor antagonist."
9.	SteroidsIBA 05/01/2013 - "Here we describe a 7-year-old boy with a molecularly proven Myhre syndrome who presented life-threatening recurrent pericarditis and systemic inflammatory symptoms that required treatment with steroid and recombinant interleukin-1 receptor antagonist."
10.	Retinaldehyde (Retinal)IBA 10/01/2012 - "Retinal involvement in two unrelated patients with Myhre syndrome." 10/01/2012 - "We report here the new finding of retinal involvement including retinitis pigmentosa and maculopathy in two unrelated patients with Myhre syndrome. "

Therapies and Procedures

1.	Cochlear Implantation 08/25/2021 - "Benefit of cochlear implantation in a patient with Myhre syndrome."
2.	Heart Transplantation (Grafting, Heart) 12/01/2015 - "Included herein is the first report of cardiac transplantation in patients with Myhre syndrome. "
3.	Tracheostomy 01/01/2021 - "Multilevel Airway Stenosis Being Bypassed by a Customized Tracheostomy Tube in an Infant with Myhre Syndrome."
4.	Pericardiectomy 10/01/2016 - "We report four newly described patients with typical features of Myhre syndrome who had (i) a mildly narrow descending aorta and restrictive cardiomyopathy; (ii) recurrent pericardial and pleural effusions; (iii) a large persistent ductus arteriosus with juxtaductal aortic coarctation; and (iv) restrictive pericardial disease requiring pericardiectomy. "