Case report The case reported in the present study involves an 18-year-old female patient presenting with short stature, facial deformities, chronic muscle and joint pain, multiple allergies and suspicion of vasculitis, without diagnosis of any autoimmune [spandidos-publications.com]

Large nose with prominent root and short philtrum is present, with a small mouth and thin upper lip. The thorax has large flat vertebrae with large pedicles. [accessanesthesiology.mhmedical.com]

The affected individuals often present with delayed psychomotor development, autistic features and variably expressed intellectual disability, although none of these were present in our patient (8, 9). [frontiersin.org]

Impairment of speech development was present in 22/32 patients. [nature.com]

We aim to define the clinical presentation in adulthood. We ask ERN-ITHACA based clinicians to contact us if they would like to share clinical data and facial photographs of individuals with Myhre syndrome aged 18 years old and above. [ern-ithaca.eu]

• Short Stature

  Facial dysmorphism Myhre syndrome SMAD4 Short stature APA Author BIBTEX Harvard Standard RIS Vancouver [snucm.elsevierpure.com]

  A new syndrome of short stature, joint limitation and muscle hypertrophy. [jmg.bmj.com]

  At a glance It is a syndrome characterized by laryngotracheal stenosis, mental retardation, short stature, maxillary hypoplasia, prognathism, severe midface hypoplasia, short palpebral fissures, short philtrum, microstomia, generalized muscle hypertrophy [accessanesthesiology.mhmedical.com]

  Keywords: Myhre syndrome, SMAD4, Short stature, Facial dysmorphism Highlights Myhre syndrome is a rare autosomal-dominant disorder characterized by short stature, intellectual disability, skeletal anomalies, restricted joint mobility, distinctive facial [e-apem.org]

  From Wikipedia, the free encyclopedia Myhre syndrome Other names Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome Myhre syndrome is inherited in an autosomal dominant manner[1] Specialty Medical genetics Myhre syndrome is [en.wikipedia.org]

• Developmental Disorder

  Source : Nat Genet 2011 déc 11 Pmid : 22158539 Abstract Myhre syndrome (MIM 139210) is a developmental disorder characterized by short stature, short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive delay. [institutimagine.org]

  Entry H02102 Disease Name Myhre syndrome Description Myhre syndrome (MYHRS) is a developmental disorder characterized by reduced growth, generalized muscular hypertrophy, facial dysmorphism, deafness, cognitive deficits, joint stiffness, and skeletal [genome.jp]

  'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). [ncbi.nlm.nih.gov]

  Discussion MS is a rare developmental disorder affecting various systems over time [7]. Early diagnosis of MS is difficult because some of its features become apparent at school age [8]. [e-apem.org]

• Hearing Impairment

  Growth delay, abnormally stiff joints, and hearing impairment may not become obvious until late infancy or early childhood. Periodic testing of an infant’s or child’s hearing is essential to detect any loss in hearing capability. [rarediseases.org]

  Other symptoms commonly found in MS are ophthalmological and hearing impairment—cataracts, disordered retina, pseudo-papilledema, and refractory abnormalities such as hypermetropia and astigmatism, together with variably expressed hearing loss (1, 13) [frontiersin.org]

  Hearing impairment MedGen UID: 235586 •Concept ID: C1384666 • Disease or Syndrome A decreased magnitude of the sensory perception of sound. [ncbi.nlm.nih.gov]

• Short Neck

  The patient demonstrated a short neck, blepharophimosis, and prognathism. Fig. 2. Skeletal radiographs. (A, B) Skull x-rays showing thickened calvarium and prognathism. (C) A hand x-ray showing clinodactyly. [e-apem.org]

  Short neck MedGen UID: 99267 •Concept ID: C0521525 • Finding Diminished length of the neck. [ncbi.nlm.nih.gov]

  He had facial dysmorphism with small palpebral fissures, small round ears, a broad nasal bridge, short philtrum, small mouth, marked prognathism, and a short neck. The hands were short with brachydactyly. He had a striking muscular build. [jmg.bmj.com]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

Laryngotracheal stenosis may require surgical treatment; however, the condition may recur after successful treatment. [rarediseases.org]

Because of the patient’s precocious puberty and short stature, we administered combined recombinant human growth hormone and gonadotropin-releasing hormone agonist treatments, which resulted in improved height. [snucm.elsevierpure.com]

Maximize all medical treatment and minimize instrumentation for all cardiac studies and therapies. Medical treatment of systemic hypertension and pulmonary hypertension (based on underlying cause). [ncbi.nlm.nih.gov]

GnRHa treatment was discontinued after about 3 years, and rhGH treatment was discontinued at the age of 14 years due to her bone age of 15 years. [e-apem.org]

Parents of affected children and adults with Myhre syndrome should talk to their primary care physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

This is considered to be a storage disease with progressive worsening and a poor prognosis. [jmg.bmj.com]

PMID: 23610053 Prognosis Cappuccio G, Caiazza M, Roca A, Melis D, Iuliano A, Matyas G, Rubino M, Limongelli G, Brunetti-Pierri N Am J Med Genet A 2021 Mar;185(3):702-709. Epub 2020 Dec 24 doi: 10.1002/ajmg.a.62019. [ncbi.nlm.nih.gov]

Etiology Yang DD, Rio M, Michot C, Boddaert N, Yacoub W, Garcelon N, Thierry B, Bonnet D, Rondeau S, Herve D, Guey S, Angoulvant F, Cormier-Daire V Orphanet J Rare Dis 2022 Jul 30;17(1):304. doi: 10.1186/s13023-022-02447-x. [ncbi.nlm.nih.gov]

Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options. [ncbi.nlm.nih.gov]

Pathophysiology of premature aging characteristics in Mendelian progeroid disorders. Eur J Med Genet. 2020;63(11):104028. https://doi.org/10.1016/j.ejmg.2020.104028. [link.springer.com]

Limiting tissue trauma appears to be the single most important preventive concept in this disorder to communicate to all health care providers involved in their care (see Prevention of Secondary Findings). [ncbi.nlm.nih.gov]

This prevents sound waves from being conducted through the middle ear (conductive hearing loss). [rarediseases.org]

Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]

Targeting TGF-beta mediated SMAD signaling for the prevention of fibrosis Front Pharmacol. 2017;8:461. 15. Lin AE, Michot C, Cormier-Daire V, L'Ecuyer TJ, Matherne GP, Barnes BH, et al. [e-apem.org]