[symptoma.com] Burning mouth syndrome (BMS) is an oral dysesthesia presenting as a burning sensation of the tongue and other oral and perioral mucosae. [de.dict.md]

Here, two previously reported cases of SFPKS are presented with emphasis on their phenotypic evolution. [nature.com]

Affected individuals may present with congenital heart disease, as well as respiratory, renal and digestive tract malformations, and umbilical hernia in the first months of life. [orpha.net]

• Abnormal Breathing

  These abnormalities can lead to severe neurological problems, including headaches, abnormal vision and balance, a buildup of fluid in the brain (hydrocephalus), abnormal breathing, and sudden death. [ghr.nlm.nih.gov]

• Hirsutism

  Previously the delineation of these two disorders has primarily been through the presence of serpentine fibulae in SFPKS, while individuals with HCS have acro-osteolysis and coarse hirsute facial features. [nature.com]

  Short stature, early loss of permanent teeth and hirsutism are observed in adults. Cystic kidney disease is rare but an essential syndromic component in a subset of patients. [orpha.net]

  narrow head Tall and narrow skull [ more ] 0000268 Downturned corners of mouth Downturned corners of the mouth Downturned mouth [ more ] 0002714 Full cheeks Apple cheeks Big cheeks Increased size of cheeks Large cheeks [ more ] 0000293 Generalized hirsutism [rarediseases.info.nih.gov]

• Hearing Impairment

  impairment Deafness Hearing defect [ more ] 0000365 Hypoplastic 5th lumbar vertebrae Underdeveloped 5th lumbar vertebrae 0008424 Joint hyperflexibility Joints move beyond expected range of motion 0005692 Macrocephaly Increased size of skull Large head [rarediseases.info.nih.gov]

  Clinically, all neonates are hearing impaired from birth and develop diffuse PPK in childhood. Leukonychia and hyperkeratoses over the joints of the hand also appear. [emedicine.medscape.com]

  impairment, enlarged vestibular aqueduct, and goiter, see Pendred syndrome autosomal recessive spastic ataxia of Charlevoix-Saguenay autosomal recessive spastic paraplegia 15, see spastic paraplegia type 15 autosomal recessive spastic paraplegia 5A, [mygenomics.com]

• Increased Bone Density

  Differential diagnosis Differential diagnoses may include pycnodysostosis and Hutchinson-Gilford progeria syndrome (see these terms) based on clinical and x-ray findings, however, patients lack premature aging seen in progeria and increased bone density [orpha.net]

Management and treatment No treatment exists for AOD, but early osteoporosis might be treated by bisphosphonates, alone or in combination with teriparatide. Prognosis Patients have a normal life expectancy. [orpha.net]

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.ro]

Acne: Treatment With Alpha Hydroxy Acids Acne: Treatment With Antibiotics Acne: Treatment With Benzoyl Peroxide Acne: Treatment With Salicylic Acid Acosta's Disease Acoustic Neurilemoma acoustic neurinoma Acoustic Neuroma ACPS II ACPS III ACPS IV ACPS [healthmedicinet.com]

Prognosis - Acroosteolysis dominant type Not supplied. Treatment - Acroosteolysis dominant type Not supplied. Resources - Acroosteolysis dominant type [checkorphan.org]

Prognosis Patients have a normal life expectancy. However, osteoporosis and respiratory dysfunction are factors for severe morbidity. The documents contained in this web site are presented for information purposes only. [orpha.net]

Prognosis If the Hirschsprung’s disease is treated in time, ABCD sufferers live otherwise healthy lives. If it is not found soon enough, death often occurs in infancy. [senyawa-kimia.blogspot.com]

Etiology AOD is caused by truncating mutations in the NOTCH2 gene (1p13-p11). All mutations lie within the last coding exon of NOTCH2 resulting in a gain of function due to the loss of the protein-destabilizing PEST domain. [orpha.net]

Idiopathic non-familial variant is of unknown etiology and usually affects fingers and is progressive. Hereditary causes of acroosteolysis follow an autosomal dominant or recessive pattern of inheritance and distal phalanges are primarily affected. [bone-abstracts.org]

; Every entity is defined by its clinical homogeneity, regardless of its etiology or the number of causing genes identified; The rarity is defined according to the European legislation defining a prevalence threshold of not more than 5 affected persons [zrftpfso.ga]

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.es]

Summary Epidemiology Prevalence is unknown; over 80 cases have been described to date. Clinical description AOD has a variable, broad and evolving clinical spectrum. [orpha.net]

Hajdu-Cheney syndrome Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare renal disease Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue - Epidemiological [csbg.cnb.csic.es]

The pathophysiology of the disease is not known. [rrnursingschool.biz]

Additional data are urgently needed to support specific pathogenetic or pathophysiologic hypotheses. [docslide.net]

Prevention - Acroosteolysis dominant type Not supplied. Diagnosis - Acroosteolysis dominant type Not supplied. Prognosis - Acroosteolysis dominant type Not supplied. Treatment - Acroosteolysis dominant type Not supplied. [checkorphan.org]

These treatments include drugs that act to strengthen the bones and prevent the loss of bone mass. [diseaseinfosearch.org]

Author Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public [emedicine.staging.medscape.com]

Alcohol Withdrawal Antianxiety Medicines for Irritable Bowel Syndrome Antibiotic Sensitivity Test Antibiotic-Induced Proctitis Antibiotics for an Ear Infection, Deciding About Antibiotics, Using Wisely Antibody Tests for Lupus Anticoagulants for Stroke Prevention [healthmedicinet.com]

Nothing can be done to prevent the disease. Diagnosis The occurrence of WS has been reported to be one in 45,000 in Europe. [senyawa-kimia.blogspot.com]