Presentation
CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. [phgkb.cdc.gov]
Key examples are the slides presenting Huntington disease, tuberous sclerosis, and Binswanger disease because their image quality is especially sharp. [nah.sen.es]
Extensive investigation is necessary for patients presenting with livedo racemosa or stroke to rule out other diseases in the differential. [dermnetnz.org]
It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person. Disclaimer: Whonamedit? does not give medical advice. [whonamedit.com]
Entire Body System
- Disability
[…] hypoplasia Abnormality of the eye Astigmatism Myopia (disease) Abnormality of the integument Abnormality of the hair Abnormality of the musculoskeletal system Acroosteolysis Distal ulnar hypoplasia Micrognathia Abnormality of the nervous system Intellectual disability [ncbi.nlm.nih.gov]
Specific PHGKB|Rare Diseases PHGKB|PHGKB Van Bogaert-hozay Syndrome Quick Links CDC National Center on Birth Defects and Developmental Disabilities NIH Genetic and Rare Diseases Information Center Disclaimer: Articles listed in the Public Health Knowledge [phgkb.cdc.gov]
Human phenotypes related to Van Bogaert-Hozay Syndrome: 30 (show all 10) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 depressed nasal bridge 30 HP:0005280 2 intellectual disability, mild 30 HP:0001256 3 micrognathia 30 HP:0000347 [malacards.org]
[…] recessive inheritance 0000007 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Distal ulnar hypoplasia 0005033 Intellectual disability [rarediseases.info.nih.gov]
- Short Stature
Petit, JP Fryns: Distal osteolysis, short stature, mental retardation, and characteristic facial appearance: delineation of an autosomal recessive subtype of essential osteolysis. In: American journal of medical genetics. [de.zxc.wiki]
stature AC deficiency - See Farber's disease ACAD8 deficiency - See Isobutyryl-CoA dehydrogenase deficiency ACADL deficiency - See LCAD deficiency ACADM deficiency - See Medium-chain acyl-coenzyme A dehydrogenase deficiency ACADS deficiency - See Short-chain [herenciageneticayenfermedad.blogspot.com]
Systemic features are hypotrichosis ,dyscephaly, short stature. [eophtha.com]
- Nightmare
The new initiative of Fondazione Internazionale Menarini: Coronavirus Library "Dear Friends and Colleagues, We are all experiencing the most serious global nightmare in our lifetimes. [fondazione-menarini.it]
Gastrointestinal
- Vomiting
Anosmia, headache, dizziness, vomiting, memory loss, psychic changes, also may be caused by an olfactory groove tumor (usually a meningioma)or pituitary adenoma. [eophtha.com]
[…] storage disease type 2 Acidemia, methylmalonic - See Methylmalonic acidemia Acinic cell carcinoma Acinic cell tumor - See Acinic cell carcinoma Acitretin embryofetopathy - See Acitretin embryopathy Acitretin embryopathy Ackee poisoning - See Jamaican vomiting [herenciageneticayenfermedad.blogspot.com]
- Nausea
[…] irritability, headaches, impaired judgment at approximately 15,000 feet, confusion, cyanosis, muscular incoordination and possible loss of consciousness at approximately 18,000–20,000 feet, exertional dyspnea, epistaxis, gum bleeding, hemoptysis, anorexia, nausea [eophtha.com]
Skin
- Skin Atrophy
Synonyms A Familial form of acro-osteolysis associated with a mild mental retardation, skin atrophy, facial dysmorphism, and ocular defects Hozay’s syndrome Acro-osteolysis-facial dysplasia syndrome Overview No overview is available at this time. [rarediseases.org]
About Library Blog FAQ Testimonials Rare Charities Press Contact Search the Library Other Names: A Familial form of acro-osteolysis associated with a mild mental retardation, skin atrophy, facial dysmorphism, and ocular defects, Acro-osteolysis-facial [rareguru.com]
A dictionary of medical eponyms Related people Jean Hozay Ludo Van Bogaert A Familial form of acro-osteolysis associated with a mild mental retardation, skin atrophy, facial dysmorphism, and ocular defects. [whonamedit.com]
atrophy with ulceration over the osteolyses, partly also on the face Debility Differential diagnosis Other forms of hereditary acroosteolysis are to be distinguished. literature A. [de.zxc.wiki]
- Angiomatosis
Martin, JJ, Navarro, C, Roussel, JM, Michielssen, P. (1973) Familial capillaro-venous leptomeningeal angiomatosis. Eur Neurol 9:202–15. [cambridge.org]
Artificial Intelligence & Built-in Healthcare Terminology (Snomed-Ct, ICD-10) & Neural Machine Translation Translation of "van bogaert-hozay syndrom " (German → French) : Hozay Syndrom | van Bogaert-Hozay Syndrom syndrome de Hozay IATE - Health IATE - Health Angiomatosis [wordscope.com]
Sturge-Weber Syndrome (Encephalofacial Angiomatosis,Encephalotrigeminal Syndrome, MeningocutaneousSyndrome, Neuro-Oculocutaneous Angiomatosis, VascularEncephalotrigeminal Syndrome) Ocular features are unilateral hydrophthalmos, secondary glaucoma(late [eophtha.com]
- Ulcer
[…] stature Facial abnormalities such as wide face, flat nose, auricular deformities, accentuated zygomatic arch, hypertelorism, micrognathia Eye abnormalities such as hypoplasia of the eyelashes and eyebrows, ptosis, astigmatism and myopia Skin atrophy with ulceration [de.zxc.wiki]
[…] features include inflammation of mucous membrane with ulcerations,general epidermolysis, cicatricial changes,especially of orifices. [eophtha.com]
Lesions are painless and are not associated with oedema, ulceration, or pruritus. Other dermatological manifestations associated with Sneddon syndrome include: Acrocyanosis Raynaud phenomenon. [dermnetnz.org]
Musculoskeletal
- Muscle Cramp
cramps acral enlargement Acardia ACAT2 - See Acetyl CoA acetyltransferase 2 deficiency Acatalasemia Acatalasia - See Acatalasemia ACC - See Adrenocortical carcinoma ACC with abnormal genitalia - See Proud syndrome ACC with intestinal lymphangiectasia [herenciageneticayenfermedad.blogspot.com]
Eyes
- Blepharoptosis
CHARGE Association (Atresia, Coloboma, Ear MalformationAssociation, Genital Hypoplasia, Heart Disease, Multiple CongenitalAnomalies Syndrome, Retarded Growth) Ocular features include blepharoptosis, iris coloboma, optic nerve coloboma,macular hypoplasia [eophtha.com]
- Prolapse
Systemic features include autosomaldominant (Ch12q, COL2A1), abnormality of type II collagen, arthropathy, Pierre Robin sequence (micrognathia, high arched/cleft palate), sensorineural deafness, mitral valve prolapse, p. 389. [eophtha.com]
Face, Head & Neck
- Hypertelorism
Facial and ocular anomalies include asymmetry, flat nose with broad bridge, thickened cheeks, malformed ears, pronounced zygomatic arc, hypertelorism, micrognathia, malocclusion, arched palate, hypoplasia of cilia and eyebrows, eyelid ptosis, alternating [whonamedit.com]
Greig Syndrome (Hypertelorism, Hypertelorism Ocularis, Ocular Hypertelorism Syndrome, Primary Embryonic Hypertelorism) Ocular features are hypertelorism (wide spacing of orbits), enophthalmos,epicanthus, deformities of eyelids andbrows, defects of the [eophtha.com]
[…] amputation-like changes, contractures of the finger joints, possibly also of the wrist and elbow joint Hypoplasia of the ulna near the wrist Short stature Facial abnormalities such as wide face, flat nose, auricular deformities, accentuated zygomatic arch, hypertelorism [de.zxc.wiki]
- Wide Face
[…] also on the face Debility Differential diagnosis Other forms of hereditary acroosteolysis are to be distinguished. literature A. [de.zxc.wiki]
Neurologic
- Myoclonus
An acute syndrome of ocular oscillations and truncal myoclonus. Brain 91, 473 (1968) Google Scholar 2. Bargeton, E.: Three cases of atypical encephalitis in children. In: van Bogaert, Radermecker, Hozay, Lowenthal: Encephalitides. [link.springer.com]
Additional examples are his histochemical and ultrastructural studies of striated muscle fibres in Prader-Willi syndrome, the case series of neuronal ceroid lipofuscinosis or Batten disease, and his clinical and neuropathological examination of progressive myoclonus [nah.sen.es]
In the clinical picture the constancy of myoclonus or losses of tonus, and psychiatric disorders was evidenced. The first symptom was the psychiatric alteration in 55.6% of the cases, myoclonus in 35.5% and grand mal seizures in 33.3%. [scielo.br]
Kinsbourne Syndrome (Dancing Eyes Syndrome, Opsoclonus-Myoclonus Syndrome) Ocular features include twitching of lids and eyebrows on occasion,more pronounced with activity than at rest,irregular vertical movements, jerky in appearanceand sometimes with [eophtha.com]
Workup
It is crucial for a clinically astute ophthalmologist to be aware of these syndromes to initiate necessary workup for more sinister lesions associated with certain ocular findings. [eophtha.com]
Other Pathologies
- Gliosis
Bloch–Sulzberger Syndrome (Incontinentia Pigmenti) Ocular features are abnormal peripheral retinal vasculature, gliosis, tractional retinal detachment. Systemic features are abnormal teeth, cutaneous pigment whorls, and CNS anomalies. [eophtha.com]
Treatment
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]
Prognosis
Acrocyanosis Microchapters Home Patient Information Overview Historical Perspective Classification Pathophysiology Causes Differentiating Acrocyanosis from other Diseases Epidemiology and Demographics Risk Factors Screening Natural History, Complications and Prognosis [wikidoc.org]
Etiology
Etiology unknown. Possible autosomal recessive inheritance. The condition was described by van Bogaert and Hozay in the same pair of siblings in 1952, respectively 1953. Bibliography J. Hozay: Sur une dystrophie familiale particulière. [whonamedit.com]
Epidemiology
Subacute sclerosing leucoencephalitis: an epidemiological, clinical and biochemical study of 31 cases Leucoencefalite esclerosante subaguda: estudo epidemiológioco, clínico e bioquímico de 31 casos Horácio M. CanelasI; O. [scielo.br]
Acrocyanosis Microchapters Home Patient Information Overview Historical Perspective Classification Pathophysiology Causes Differentiating Acrocyanosis from other Diseases Epidemiology and Demographics Risk Factors Screening Natural History, Complications [wikidoc.org]
Pathophysiology
Acrocyanosis Microchapters Home Patient Information Overview Historical Perspective Classification Pathophysiology Causes Differentiating Acrocyanosis from other Diseases Epidemiology and Demographics Risk Factors Screening Natural History, Complications [wikidoc.org]
Prevention
Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. [phgkb.cdc.gov]
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]
Secondary Prevention Cost-Effectiveness of Therapy Future or Investigational Therapies Case Studies Case #1 Acrocyanosis causes On the Web Most recent articles Most cited articles Review articles CME Programs Powerpoint slides Images American Roentgen [wikidoc.org]