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femur ; Short stature ; Short tibia ; Strabismus ; Supernumerary ribs ; Thin vermilion border Associated Genes ZBTB16 (Withdrawn symbols: PLZF, ZNF145 ) Mouse Orthologs Zbtb16 (Withdrawn symbols: AI467657, Zfp145, lu ) Source OMIM:612447 (names, synonyms [mousephenotype.org]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

• Retinal Pigmentation

  pigment (retinitis pigmentosa), polydactyly, obesity, mental retardation Autosomal recessive Fraser Cryptophthalmia, nose and ear anomalies, stenotic larynx, skeletal defects, syndactyly, renal agenesis, large clitoris and labia majora, mental retardation [glowm.com]

• Skin Disease

  If an individual inherits one normal gene and one gene for the disease, the person will be a carrier for the disease but usually will not show symptoms. [rarediseases.org]

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]