The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.de]

Patients present with facial hypotonia and a characteristic mouth. Genital abnormalities are observed in 80% of children and range from undescended testes to ambiguous genitalia. Alpha thalassaemia is not always present. [orpha.net]

Acronym SGYMR Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Presents ultrasound video ciips as they would appear in practice on the bonus DVD. [books.google.com]

• Short Stature

  Definition A disorder characterized by mental retardation, craniofacial dysmorphism, microcephaly and short stature. [uniprot.org]

  Note moderate short stature, flat facial profile (fetal face–like appearance), short forearms, and small hands. [emedicine.medscape.com]

  Entry H00969 Disease Name Skeletal defects, genital hypoplasia, and mental retardation Description This syndrome is associated with mental retardation, craniofacial dysmorphism, disproportionate short stature, and genital hypoplasia. [genome.jp]

  […] femur ; Short stature ; Short tibia ; Strabismus ; Supernumerary ribs ; Thin vermilion border Associated Genes ZBTB16 (Withdrawn symbols: PLZF, ZNF145 ) Mouse Orthologs Zbtb16 (Withdrawn symbols: AI467657, Zfp145, lu ) Source OMIM:612447 (names, synonyms [mousephenotype.org]

  Most children with Robinow syndrome experience growth delays after birth, resulting in slight to moderate short stature. [rarediseases.org]

• Developmental Delay

  Disease definition X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. [orpha.net]

  delay and mental retardation. [genome.jp]

  Mental functioning and intelligence is usually unaffected; developmental delay/mental retardation should suggest an alternative diagnosis. The cause of VACTERL association remains unknown in most cases and is likely heterogeneous. [rarediseases.org]

• Brachydactyly

  One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B. Hum Mutat. 2003;22:1-11. Patton MA, Afzal AR. Robinow syndrome. J Med Genet. 2002;39:305-10. Venditti CP, et al. [rarediseases.org]

  Syndromes associated with longitudinal vaginal septa Syndrome Somatic anomalies Etiology Edwards-Gale (camptobrachydactyly) 24 Flexion contractures of distal interphalangeal joints, brachydactyly, polydactyly, syndactyly, urinary incontinence Autosomal [glowm.com]

This era was followed by improved environmental factors which operate to produce methods of medical treatment, introduction congenital cardiac malformations. [books.google.de]

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]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Standard Therapies Treatment The treatment of Ruvalcaba syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Prognosis A number of individuals with ATR-X are fit and well in their 30s and 40s. The documents contained in this web site are presented for information purposes only. [orpha.net]

Prognosis The prognosis for a disorder varies with the specific condition. Prevention Pregnant women should eat a nutritious diet. [encyclopedia.com]

In 183 short chapters, the book provides the essentials clinicians need on symptoms/signs, diagnostic tests, and neurologic disorders of all etiologies. For this edition, Timothy A. [books.google.de]

Etiology This syndrome is X-linked recessive and results from mutations in the ATRX gene. This gene encodes the widely expressed ATRX protein. [orpha.net]

The other plausible explanation is genetic (etiologic) heterogeneity. [glowm.com]

A population study of the VACTERL association: evidence for its etiologic heterogeneity. Pediatrics. 1983;71:815-20. INTERNET Online Mendelian Inheritance in Man (OMIM).The Johns Hopkins University.VATER Association. Entry No: 192350. [rarediseases.org]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.de]

Summary Epidemiology So far, 168 patients have been reported. Clinical description Language is usually very limited. Seizures occur in about one third of the cases. [orpha.net]

Neto RM, Castilla EE, Paz JE (1981) Hypospadias: an epidemiological study in Latin America. Am J Med Genet 10:5 CrossRef Google Scholar 26. Opitz JM (1982) The developmental field concept in clinical genetics. [link.springer.com]

VACTERL association, epidemiologic definition and delineation. Am J Med Genet. 1996;63:529-36. Corsello G, et al. VATER/VACTERL association: clinical variability and expanding phenotype including laryngeal stenosis. Am J Med Genet. 1992;44:813-5. [rarediseases.org]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.de]

Metabolic defects prevent the body from properly breaking down food to create energy. [m.kidshealth.org]

Centers for Disease Control and Prevention (CDC). [encyclopedia.com]

Aplastic anemia is a condition that prevents the bone marrow from producing an adequate amount of new red blood cells. Affected individuals have low levels of red blood cells, white blood cells, and platelets. [abcore.com]

TIS is a congenital condition where severe deformities of the chest, spine, and ribs prevent normal breathing and lung development. [rarediseases.org]