Mental retar-dation is uniformly present in these patients, though theseverity varies; usually they exhibit a pleasant andaffectionate affect. [docslide.com.br]

Clinical presentation Patients most commonly present with a classic triad of: d... [radiopaedia.org]

Authors; occurring in either or both the lumbar or thoracic spine and is not associated with spinal deformity.We present a case of polyostotic fibrous dysplasia with limited involvement in thoracic spine and adjacent ribs. [sacyy.webcindario.com]

Acronym CFSMR Synonyms Cerebrofaciothoracic dysplasia Cerebro-facio-thoracic dysplasia TMCO1 defect syndrome Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Costovertebral abnormalities are always present and may include: short or fused ribs, and misshaped vertebrae or ribs. [diseaseinfosearch.org]

• Pain

  Significant chronic back pain in the thoracic or lumbar spine without spinal deformity associated with disc space. Scolioza lombară toracică dysplastică : Rating: 858 / 159 Overall: 968 Rates [sacyy.webcindario.com]

  This may include pain or discomfort especially with coughing, exercise, or bowel movements. Infiltración de toxina botulínica en la preparación preoperatoria de las hernias con defectos de 10. Start a new discussion. [sukeyaya.ga]

  Clinical presentation Recurrent abdominal pain, cholangitis, pancreatitis, or biliary obstr... [radiopaedia.org]

  Chorea, hereditary, benign Neurological Choreoathetosis, hypothyroidism and neonatal respiratory distress Neurological Cognitive impairment with or without cerebellar ataxia Neurological Complex II deficiency Neurological Congenital indifference to pain [genomediagnosticsnijmegen.nl]

  Lohr C E - - 2004 Chilaiditi's syndrome refers to the symptoms of abdominal pain, distention, vomiting, anorexia, and constipation caused by hepatodiaphragmatic interposition of the intestine. [biomedsearch.com]

• Poor Feeding

  […] difficulties Feeding problems Poor feeding [ more ] 0011968 Flat face Flat facial shape 0012368 Gingival overgrowth Gum enlargement 0000212 Hemivertebrae Missing part of vertebrae 0002937 High palate Elevated palate Increased palatal height [ more ] [rarediseases.info.nih.gov]

• Narrow Thorax

  Chondroectoder-mal dysplasia in a 25-week male fetus. a Note narrow, cylindrical thorax with short ribs. b The vertebrae are not affected. [rrnursingschool.biz]

  Inguinal hernia 2 2 2 SkeletalCostovertebral anomalies Narrow thorax 2 2 Raised scapulae 2 2 2 2Central nervous systemAnomaly septum pellucidum ? 2 2Hypoplasia corpus callosum ? 2 2 2 Hypoplasia cerebellar vermis 2 2 2 2 2 2 M. [docslide.com.br]

• Low-Set Posteriorly Rotated Ears

  posteriorly rotated ears, short neck, and multiple costal and vertebral anomalies. [unboundmedicine.com]

  […] anterior hairline Low frontal hairline Low-set frontal hairline [ more ] 0000294 Low posterior hairline Low hairline at back of neck 0002162 Low-set ears Low set ears Lowset ears [ more ] 0000369 Low-set, posteriorly rotated ears 0000368 Macrocephaly [rarediseases.info.nih.gov]

  posteriorly rotated ears, short neck,... more Whole-exome sequencing (WES) is a type of disruptive technology that has tremendous influence on human and clinical genetics research. [scinapse.io]

• Widely Spaced Nipples

  0000582 Wide intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 Wide nose Broad nose Increased breadth of nose Increased nasal breadth Increased nasal width Increased width of nose [ more ] 0000445 [rarediseases.info.nih.gov]

• Short Neck

  The characteristic findings are mental retardation, characteristic facies, narrow forehead, bushy eyebrows with synophrys, hypertelorism, broad nose, wide philtrum, triangular-shaped mouth, short neck, marked maxillary hypoplasia, a low hairline (especially [ncbi.nlm.nih.gov]

  neck, and multiple costal and vertebral anomalies. [unboundmedicine.com]

  neck Skeletal abnormalities Abnormalities of the upper thoracic vertebrae and ribs Hypermobility Talipes (clubfoot) Central nervous system Hypoplasia of the corpus callosum and cerebellar vermis Cognitive impairment Chiari I malformation Optic nerve [en.wikipedia.org]

• Narrow Forehead

  We report another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome) characterized by mental retardation and characteristic facies: narrow forehead, synophris, hypertelorism, broad nasal bridge, long philtrum, micrognathia, triangular-shaped [ncbi.nlm.nih.gov]

  The second patient has hypodensity of t... more Abstract We report another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome) characterized by mental retardation and characteristic facies: narrow forehead, synophris, hypertelorism [scinapse.io]

  Signs and symptoms[edit] These can be divided into four areas[citation needed] Facial features Brachycephaly Low hairline Narrow forehead Bushy eyebrows Synophrys Hypertelorism Ptosis Broad nose Wide philtrum Triangular shaped mouth Maxillary hypoplasia [en.wikipedia.org]

• Tremor

  Syndrome Balo Disease Banti's Syndrome Barakat Syndrome Bardet Biedl Syndrome Barrett Esophagus Barth Syndrome Bartonellosis Bartter's Syndrome Batten Disease Beals Syndrome Beckwith Wiedemann Syndrome Behcet's syndrome Bejel Bell's Palsy Benign Essential Tremor [arrayit.com]

  Syndrome Olivopontocerebellar Atrophy Ollier's Disease (Multiple Enchondromatosis) Ophthalmia: Anophthalmia & Microphthalmia Oral-Facial-Digital Syndrome (OFDS) Orbital Cyst Orbital Cyst Organic Acidemia Ornithine Transcarbamylase Deficiency Orthostatic tremors [geneticalliance.org.au]

  DISSINERGIA CEREBELLARE MIOCLONICA DI HUNT ATROFIA SPINODENTATA ATASSIA PERIODICA ATASSIA VESTIBULOCEREBELLARE MARINESCO-SJÖGREN, SINDROME DI ATASSIA FRIEDREICH-LIKE DEFICIENZA FAMILIARE DI VITAMINA E ATASSIA-TELEANGECTASIA LOUIS-BAR, SINDROME DI SINDROME CON TREMORE [retemalattierare.it]

  […] kinesigenic dyskinesia Neurological Episodic pain syndrome Neurological Erythermalgia, primary or idiopathic Neurological Familial infantile convulsions with paroxysmal choreoathetosis Neurological Febrile seizures Neurological Fragile-X associated tremor [genomediagnosticsnijmegen.nl]

[citation needed] Treatment[edit] There is no known treatment for this condition. Surgery may be helpful in treating the cleft lip and palate.[citation needed] Prognosis[edit] All cases to date have been reported in children. [en.wikipedia.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

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]

Abnormal anterior curvature of the lumbar spine (swayback or Asphyxiating thoracic dysplasia (Jeune syndrome.Skeletal Dysplasia: Treatments. [sacyy.webcindario.com]

Consult your personal physician or other professional health care provider when seeking individualized treatment regarding your medical diagnosis or condition. [varsome.com]

[citation needed] Prognosis[edit] All cases to date have been reported in children. Long term prognosis is not known.[citation needed] Epidemiology[edit] Pascual-Castroviejo syndrome type 1 is rare. About 20 cases have been reported worldwide. [en.wikipedia.org]

CNS abnormalities have an important role in long-term prognosis of children with GSDs and should consequently not be missed. [scinapse.io]

Acute spinal cord ischemia syndrome (ASCIS) is uncommon, but usually presents with profound neurological signs and symptoms, and the prognosis is poor. [radiopaedia.org]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

We report a patient with Seckel ... 547 Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for ... [biomedsearch.com]

The etiology is thought to be due to changes of position of the otoliths in the inner ear, most commonly into the posterio... Bertolotti syndrome refers to the association between lumbosacral transitional vertebrae and low back pain. [radiopaedia.org]

Google Scholar Driscoll, D.A., M.L.Budarf and B.S.Emanuel, A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22qll. Am.J.Hum.Genet. 50 (1992) 924–933. [link.springer.com]

The etiology of DOS is not known. The normal bone scan shows that unlike MOP this disorder is not a result of osteoclastic dysfunction or osteoblastic hyperfunc- tion. [documents.tips]

[citation needed] Epidemiology[edit] Pascual-Castroviejo syndrome type 1 is rare. About 20 cases have been reported worldwide. [en.wikipedia.org]

Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA pediatrics, 168(4), 371-377. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Correa A (2010). [centogene.com]

Google Scholar Martinez-Frias, M.L., Epidemiological analysis of outcomes of pregnancy in diabetic mothers: Identification of the most characteristic and most frequent congenital anomalies. Am.J. Med.Genet. 51 (1994) 108–113. [link.springer.com]

The real X-Men fought and defeated Cerebro 's team, and prevented the satellite from exploding ... [liquisearch.com]

Genetics, Genetic Counseling, and Prevention 4. Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation Syndromes 5. Normal Standards Appendix I Pattern of Malformation Differential Diagnosis by Anomalies show more [bookdepository.com]

Early recognition of this condition is important for genetic counseling and prevention of progressive skeletal ... 523 Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping ... [biomedsearch.com]

FUNCTION: Calcium-selective channel required to prevent calcium CC stores from overfilling, thereby playing a key role in calcium CC homeostasis (PubMed:27212239). [genome.jp]

Arrayit Corporation ( ARYC ) leads and empowers the genetic, research, pharmaceutical, and diagnostic communities through the discovery, development and manufacture of proprietary life science technologies and consumables for disease prevention, treatment [arrayit.com]