Edit concept Question Editor Create issue ticket

Oculomaxillofacial Dysostosis

Tessier number 4 Facial Cleft


Presentation

  • Features nearly 2,500 illustrations - 2,350 in full color - which depict each abnormality or condition as they present in practice. Presents practical information on autopsy techniques and protocols.[books.google.es]
  • There are a few cases of EEC syndrome reported in the literature, with variable presentation. Here, we offer an insight into the diagnosis and management of EEC syndrome through the presentation of a case.[parjournal.net]
  • It is designed this way to ensure a high amount of transcriptional RNA is present so that a high viral titer is obtained.[abmgood.com]
  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
Short Finger
  • fingers or toes 0001156 Camptodactyly of finger Permanent flexion of the finger 0100490 Cognitive impairment Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ] 0100543[rarediseases.info.nih.gov]
  • […] thorax Anteverted ears Psychomotor deterioration Abnormal corpus callosum morphology Broad philtrum Short attention span Narrow nose Delayed gross motor development Short toe Short middle phalanx of finger Finger clinodactyly Narrow palpebral fissure Short[mendelian.co]
Painter
  • Rembrandt [videos] Rembrandt Harmenszoon van Rijn was a Dutch draughtsman, painter and printmaker.[wikivisually.com]
Sleep Apnea
  • Effect of oral appliance therapy for sleep apnea syndrome on blood pressure. International Journal of Prosthodontics 19: 463-468, 2006. Yoshida K. Effect of oral appliance therapy for sleep apnea syndrome on blood pressure.[kyoto.hosp.go.jp]
  • O-Ob * O Doherty syndrome * O Donnell Pappas syndrome * Obesity * Obesophobia * Obsessive-compulsive disorder * Obstructive asymmetric septal hypertrophy * Obstructive sleep apnea Oc Occ-Och * Occipital horn syndrome * Occlusive Infantile ateriopathy[en.academic.ru]
  • O-Ob O Doherty syndrome O Donnell Pappas syndrome Obesophobia Obsessive-compulsive disorder Obsessive-compulsive personality disorder Obstructive asymmetric septal hypertrophy Obstructive sleep apnea Oc Occ-Och Occipital horn syndrome Occlusive Infantile[ssf.f15ijp.com]
  • O-Ob O Doherty syndrome O Donnell Pappas syndrome Obesity Obesophobia Obsessive-compulsive disorder Obstructive asymmetric septal hypertrophy Obstructive sleep apnea Oc Occ-Och Occipital horn syndrome Occlusive Infantile ateriopathy Occult spinal dysraphism[wikidoc.org]
  • O–Ob [ edit ] O Doherty syndrome O Donnell Pappas syndrome Obesophobia Obsessive–compulsive disorder (OCD) Obsessive–compulsive personality disorder Obstructive asymmetric septal hypertrophy Obstructive sleep apnea Oc [ edit ] Occ–Och [ edit ] Occipital[en.wikipedia.org]
Abnormal Teeth
  • Showing of 24 30%-79% of people have these symptoms Abnormality of the dentition Abnormal dentition Abnormal teeth Dental abnormalities Dental abnormality [ more ] 0000164 Aplasia/Hypoplasia of the eyebrow Absence of eyebrow Lack of eyebrow Missing eyebrow[rarediseases.info.nih.gov]
Brachydactyly
  • Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.Visit the Orphanet disease page for more resources.[malacards.org]
  • Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.[rarediseases.info.nih.gov]
  • Diseases Hyperbilirubinemia type 2 Pyridoxine deficit Tracheophageal fistula hypospadias Brachydactyly a Brachydactyly s Contact dermatitis, irritant Diabetic embryopathy Diabetes insipidus Oculomaxillofacial dysplasia with oblique facial clefts Dyssegmental[sarcomacancer.org]
  • This publication is cited by 3 and mapped to 6 other entries. 8 "Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels."[uniprot.org]
  • Brachydactyly A1, C (BDA1C) [MIM:615072] (GDF5,NOG) Brachydactyly B2 (BDB2) [MIM:611377] (GDF5,NOG) Brachydactyly C (BDC) [MIM:113100] (GDF5,NOG) Breast cancer Breast cancer (BC) [MIM:114480] (PIK3R1,PIK3CA) Breast-ovarian cancer, familial, 3 (BROVCA3[dsysmap.irbbarcelona.org]
Decrease in Height
  • […] body height Small stature [ more ] 0004322 Sparse or absent eyelashes 0200102 Underdeveloped nasal alae Underdeveloped tissue around nostril 0000430 Upslanted palpebral fissure Upward slanting of the opening between the eyelids 0000582 Wide nasal bridge[rarediseases.info.nih.gov]
Fracture
  • Vigorous use of water jets should be avoided with fractures, known blood clots, bleeding disorders, severe osteoporosis, open wounds, or during pregnancy.[naturesfoodpatch.com]
  • […] floating-harbor, florid, flotch, flutter, flynn, focal, foetal, foeto-foetal, foix, folate, folinic, follicular, follicularis, following, fontaine, foot, foramina, forelock, form, formiminoglutamic, forms, forney-robinson-pascoe, foveal, fowler-christmas-chapple, fractures[rapsodyonline.eurordis.org]
Small Head
Corneal Opacity
  • Affiliated tissues include bone and eye, and related phenotypes are corneal opacity and abnormality of the dentition[malacards.org]
  • opacity 0007957 Facial cleft Cleft of the face 0002006 Median cleft lip Central cleft upper lip 0000161 Short stature Decreased body height Small stature [ more ] 0004322 Sparse or absent eyelashes 0200102 Underdeveloped nasal alae Underdeveloped tissue[rarediseases.info.nih.gov]
  • opacity Retinal degeneration Respiratory tract infection Retinopathy Joint stiffness Skeletal dysplasia Kyphosis Abnormal pyramidal sign Hepatosplenomegaly Umbilical hernia Coarse facial features Glaucoma Recurrent respiratory infections Hernia Inguinal[mendelian.co]
Small Eyes
  • eye Absent/underdeveloped eye [ more ] 0008056 Brachydactyly Short fingers or toes 0001156 Camptodactyly of finger Permanent flexion of the finger 0100490 Cognitive impairment Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive[rarediseases.info.nih.gov]
  • eyes dis-order), mandibular hypoplasia, dyscephaly (usually brachycephaly), bird-like facies (parrot nose), proportionate nanism, and bilateral congenital cataracts. [14824] References: Tartaglia M. et al "Jackson-Weiss syndrome: identification of two[wellnessadvocate.com]
Sparse Eyebrows
  • eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts.[malacards.org]
  • eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip /palate, and oblique facial clefts.[rarediseases.info.nih.gov]
  • She had short stature, mental retarda- tion, down-slanted and S-shaped palpebral fissures, sparse eyebrows, with abnormal lateral orientation, irregular contour of the upper lid, absent lower eye- lashes, bilateral anophthalmia, broad and abnormally modelled[docslide.net]
Sparse or Absent Eyelashes
  • […] or absent eyelashes 0200102 Underdeveloped nasal alae Underdeveloped tissue around nostril 0000430 Upslanted palpebral fissure Upward slanting of the opening between the eyelids 0000582 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened[rarediseases.info.nih.gov]
Sparse Eyelashes
  • He presented short stature, asymmetric orbits, down-slanted and S-shaped palpebral fissures, sparse eyelashes mainly on the lower lid, irregu- lar contour of upper and lower lids, ectropion, a/ hypoplasia of lacrimal puncta bilaterally, corneal leukoma[docslide.net]
Grieving
  • G.I. comforting a grieving infantryman Crew of an M-24 tank along the Nakdong River front, August 1950 Combat in the streets of Seoul Rolls-Royce Motor Cars [videos] Rolls-Royce Motor Cars Limited is a British luxury automobile maker.[wikivisually.com]
Broad Nasal Bridge
  • nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [[rarediseases.info.nih.gov]
  • Facial features include prominent forehead, flat philtrum, hypertelorism, telecanthus, broad nasal bridge, and anteverted nares. read more[ctgt.net]
  • nasal bridge, high arch/cleft palate.[4] There is no reported sex predilection.[5] Initially it was thought to be an autosomal dominant condition but subsequent reports of consanguinity as well as affected ACS sibs born to unaffected parents, have suggested[jemds.com]
  • nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and[mendelian.co]
Median Cleft Lip
  • cleft lip Central cleft upper lip 0000161 Short stature Decreased body height Small stature [ more ] 0004322 Sparse or absent eyelashes 0200102 Underdeveloped nasal alae Underdeveloped tissue around nostril 0000430 Upslanted palpebral fissure Upward[rarediseases.info.nih.gov]
  • At birth presence of two or more of the following symptoms is considered positive for FND: A skin-covered gap in the bones of the forehead (anterior cranium bifidum occultum); hypertelorism; median cleft lip; median cleft nose; and/or any abnormal development[ruralneuropractice.com]
Cognitive Defect
  • defects Cognitive deficits Intellectual impairment Mental impairment [ more ] 0100543 Coloboma Notched pupil 0000589 Deep palmar crease Deep palm line 0006191 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Percent of people[rarediseases.info.nih.gov]
Cognitive Deficit
  • deficits Intellectual impairment Mental impairment [ more ] 0100543 Coloboma Notched pupil 0000589 Deep palmar crease Deep palm line 0006191 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Percent of people who have these symptoms[rarediseases.info.nih.gov]

Treatment

  • Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines.[orpha.net]
  • The purpose of this study was to describe the plastic surgeon's approach to EEC treatment by retrospective analysis of the course of surgical treatment .[journals.lww.com]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • Treatment Treatment Options: Supportive care is required but no other treatment has been reported.[disorders.eyes.arizona.edu]
  • Further research is awaited and should be obtained through a significant effort on experimental treatment trials and neuroscience research.[books.google.it]

Prognosis

  • Diagnosis - Rodini Richieri Costa syndrome * Cold & Flu: Home Testing: o Home Fever Tests o Home Ear Infection Tests o Home Flu Tests Prognosis - Rodini Richieri Costa syndrome Not supplied. Treatment - Rodini Richieri Costa syndrome Not supplied.[checkorphan.org]
  • Genetic counseling, appropriate treatment and prognosis were explained in detail to the parents but they decided to give consent for do not resuscitate (DNR). Baby died at 36 hours of life.[ruralneuropractice.com]
  • Although these individuals typically have normal life span, the prognosis varies depending on the severity of the systemic associations.[parjournal.net]
  • Neurodeveopmental profile of infants and toddlers with oculo-auriculo-vertebral spectrum and the correlation of prognosis with physical find-ings. American Journal of Medical genetics (neuropsychiatric genetics), 60 , 535-40.[doi.org]
  • Toxicity prognosis is also compound nigh the duration of toxicity (Trotti et al. 2007). Prepare an insignificant column near placing an appropriate membrane strain inside at the grovelling and fixing a stopcock at the outlet.[sarcomacancer.org]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • CNCC dysfunction plays a prominent role in the etiology of orofacial clefts, a frequent birth malformation. Heterozygous mutations in SPECC1L have been identified in patients with atypical and syndromic clefts.[hungary.pure.elsevier.com]
  • Oblique facial clefts: Pathology, etiology, and reconstruction. Plastic and Reconstructive Surgery, 76 , 212–224. PubMed CrossRef Google Scholar Warburg, M., Jensen, H., Prause, J. U., et al. (1997).[link.springer.com]
  • ., Wolf, P.A. (1971) Frontonasal dysplasia (median cleft face syndrome): comments on etiology and pathogenesis. Birth defects original article series , 7(7): 117-9 [ PM ] [ EČ ][ GS ] DeMyer, W. (1967) The median cleft face syndrome.[scindeks.ceon.rs]
  • The disease is seen sporadically, and its etiology is unclear.[parjournal.net]

Prevention

  • Prevention - Rodini Richieri Costa syndrome Not supplied. Diagnosis - Rodini Richieri Costa syndrome * Cold & Flu: Home Testing: o Home Fever Tests o Home Ear Infection Tests o Home Flu Tests Prognosis - Rodini Richieri Costa syndrome Not supplied.[checkorphan.org]
  • For long term storage store at -20C in small aliquots to prevent freeze-thaw cycles. Concentration: Approximately 0.5mg/ml. Actual concentration varies with each lot.[avivasysbio.com]
  • Protein coding - C9JLY8 - 3' truncation in transcript evidence prevents annotation of the end of the CDS. CDS 3' incomplete Transcript Support Level 3, when transcripts are supported by a single EST only.[ensembl.org]
  • For long term storage store at -20 C in small aliquots to prevent freeze-thaw cycles. Expiry Date 6 months Supplier Images CYTSA Antibody (N-term) (ABIN656040) immunohistochemistry analysis in formalin fixed ...[antibodies-online.com]
  • Tea tree oil : Tea tree oil is purported to have antiseptic properties, and has been used traditionally to prevent and treat infections.[naturesfoodpatch.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!