We hypothesize that the presently reported patients represent further evidence that phenotypes strongly resembling FMD exist that are not accounted for by mutations in FLNA. [ncbi.nlm.nih.gov]

We present two families with frontometaphyseal dysplasia, in which both males and females showed the facial and skeletal features of the syndrome in association with progressive scoliosis. [hungary.pure.elsevier.com]

• Asymptomatic

  The two, however, are clinically, radiographically, and genetically distinct from one another. [4] Treatment [ edit ] People with Pyle disease are often asymptomatic. Dental anomalies may require orthodontic interventions. [en.wikipedia.org]

  Usually asymptomatic at birth and then gradually progressive, particularly contractures. Radiography shows bony changes of dysplasia and osteosclerosis. Metachromatic fibroblasts on blood work. [accessanesthesiology.mhmedical.com]

  Patients are often asymptomatic, but some suffer from pain and hearing loss. ADOI appears to be the only type of osteopetrosis not associated with an increased fracture rate. [encyclopedia.com]

• Constipation

  FG syndrome (FGS) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. Defects in FLNA are the cause of terminal osseous dysplasia (TOD) [MIM:300244]. [abcam.com]

  Article CAS Google Scholar Hehr U, Hehr A, Uyanik G, Phelan E, Winkler J, Reardon W : A Filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia and severe constipation reminiscent of Cerebro-Fronto-Facial [nature.com]

• Vomiting

  At the age of two months she had recurrent cyanotic events, frequent choking while feeding, and significant vomiting. [cags.org.ae]

• Selective Tooth Agenesis

  tooth agenesis Short chin Skeletal muscle atrophy Stridor Wide nasal bridge Wrist flexion contracture Based on the frequency of symptoms observed, the following information may be noted: Very frequently present symptoms in 80-99% of the cases: Abnormality [dovemed.com]

  tooth agenesis 0001592 Short chin Decreased height of chin Short lower third of face [ more ] 0000331 Skeletal muscle atrophy Muscle degeneration Muscle wasting [ more ] 0003202 Stridor 0010307 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened [rarediseases.info.nih.gov]

• Microdontia

  Craniofacial phenotype is represented by stellate iris, periorbital oedema, flattening of nasal pyramid, short nose with anteverted nostrils, long philtrum, macrostomy, thick lips, microdontia, multiple diastema, dental malocclusion and micrognathia. [intechopen.com]

• Hearing Impairment

  Complete Probemix List New and Improved Products IVD-Registered Products Bacteria Blood Cancers Cardiovascular Carrier Endocrine & Reproductive Gastrointestinal & Liver Hearing Impairment Hereditary Blood Disorders Immunological Imprinting Intellectual [mlpa.com]

  impairment Craniofacial hyperostosis Downslanted palpebral fissures Hypertelorism Joint stiffness Micrognathia Prominent supraorbital ridges Reduced number of teeth Sensorineural hearing impairment Frequently present symptoms in 30-79% of the cases: [dovemed.com]

  impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Craniofacial hyperostosis Excessive bone growth of the skull and face 0004493 Downslanted palpebral fissures Downward slanting of the opening between the eyelids 0000494 Hypertelorism [rarediseases.info.nih.gov]

• Coxa Valga

  Severe left sided coxa valga. Minor right sided coxa valga with lateral bowing of the right leg. CASES REPORT This Czech girl was born at 36 weeks of gestation to a 24 year old, gravida 1 para 1 mother and a healthy father. [czytelniamedyczna.pl]

  Keywords Foramen Magnum Orthopaedic Complication Coxa Valga Sclerosing Bone Dysplasia Diaphyseal Dysplasia These keywords were added by machine and not by the authors. [link.springer.com]

  Femoral capital epiphyses are flattened, with expansion of the femoral heads and coxa valga (hip deformity). Finger bones are undermodeled, with erosion and loss of joint space. [merckmanuals.com]

  valga Delayed eruption of teeth Dental malocclusion Elbow flexion contracture Genu valgum Hirsutism Hydroureter Increased density of long bone diaphyses Intellectual disability Knee flexion contracture Large foramen magnum Long foot Long phalanx of finger [dovemed.com]

• Winged Scapula

  He has prominent supraorbital ridges, height-span disproportion, dental abnormalities, thick clavicles, pectus excavatum, winged scapulae, joint contractures, and generalized muscular underdevelopment. [ncbi.nlm.nih.gov]

  Scoliosis, cervical vertebral abnormalities and limited movement, and winged scapula. Flexion contracture of joints (particularly fingers), poorly developed musculature. Cardiac murmurs are common, but often no abnormalities are found. [accessanesthesiology.mhmedical.com]

• Long Arm

  […] case the mutant gene has been tracked to the long arm of chromosome 6 (6q21-q22). [rarediseases.org]

• Confusion

  A scholarly effort to bring order into this confusing field must be welcomed. Professors Beighton and Cremin have skillfully defined the problem and concisely yet thoroughly have identified the various sclerosing dysplasias. [books.google.de]

  The unique facial features and characteristic radiographic appearances do not allow confusion with other craniotubular disorders (12-14). [czytelniamedyczna.pl]

  You can help by adding to it. ( July 2017 ) Diagnosis [ edit ] Differential diagnosis [ edit ] Pyle disease may be confused with craniometaphyseal dysplasia. [en.wikipedia.org]

  This rare, autosomal recessive disorder is often confused semantically with craniometaphyseal dysplasia. Affected people are clinically normal, apart from genu valgum, although scoliosis and bone fragility occasionally occur. [msdmanuals.com]

Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]

Treatment with intermittent supplemental oxygen, nocturnal nasal volume ventilation, and posture modification was successful in partial resolution of chronic hypoventilation and excessive daytime somnolence. [ncbi.nlm.nih.gov]

The complications of Frontometaphyseal Dysplasia may include: Immobility of joints Heat abnormalities Physical deformities Complications may occur with or without treatment, and in some cases, due to treatment also. [dovemed.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Prognosis depends on the progression of ankylosis and thoracic restriction (respiratory failure). Genitourinary tract obstructive anomalies and hydrocephaly are not unusual. Assessment of associated abnormalities, particularly the airway. [accessanesthesiology.mhmedical.com]

Prognosis The prognosis for individuals affected by sclerosing bone dysplasia varies greatly depending upon the type of sclerosing bone dysplasia and severity of symptoms. [encyclopedia.com]

The nature of their genetic condition and any other health issues, how quickly the child is diagnosed, and possible treatment options, all factor into a child’s long-term prognosis. [chop.edu]

An adequate genetic evaluation usually facilitates decisions about therapeutic intervention and gives clues about the prognosis. 2. Genetic disorders with primary effect on growth 2.1. [intechopen.com]

Other features that may indicate a different etiology in these patients are the increased frequency of cleft palate, Robin sequence, tracheal stenosis, and mild intellectual disability, which all occur in three of more patients in the present group. [ncbi.nlm.nih.gov]

Etiology The exact pathogenesis of FMD is still unknown, however around half of cases of FMD are caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. [orpha.net]

(Etiology) Inheritance is X-linked. [dovemed.com]

[…] interstitial and granulonodulo alveolar pattern 324 Interstitialreticular pulmonary pattern 326 Disseminated interstitial pneumonitis 327 The miliary pattern of pneumonia 328 Short linear andor wedgeshaped densities 329 Pulmonary edema in infancy and childhood Etiology [books.google.de]

A discussion based on a literature review of the mode of inheritance, of variation in the clinical expression, and of the etiology of hearing loss is also included. [opdsyndrome.org]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.de]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

Summary Epidemiology To date, over 100 cases have been described in the literature. [orpha.net]

CRC Genetic Epidemiology Research Group, Princess Anne Hospital, Southampton, UK. We describe the prenatal diagnosis and post mortem findings, including fetal radiographs and bone histology, in a fetus with oto-palato-digital syndrome type II. [opdsyndrome.org]

Currently, Frontometaphyseal Dysplasia may not be preventable, since it is a genetic disorder. [dovemed.com]

To have strong bones when you are young, and to prevent bone loss when you are older, you need to get enough calcium, vitamin D, and exercise. You should also avoid smoking and drinking too much alcohol. Bone diseases can make bones easy to break. [medlineplus.gov]

Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] [icdlist.com]

This is critical to preventing aortic dissection, which is often fatal. [genetests.org]

Charlie Oldfield (pictured aged three) was diagnosed with craniosynostosis at just 21 months old and had to undergo 10 gruelling operations to prevent his skull putting fatal pressure on his brain The tenth operation took five and a half hours and dismantled [dailymail.co.uk]