ADULT Syndrome Caused by a Mutation Previously Associated with EEC Syndrome.
Summary of "ADULT Syndrome Caused by a Mutation Previously Associated with EEC Syndrome."
â€ƒ Acro-Dermato-Ungual-Lacrimal-Tooth (ADULT) syndrome is a rare autosomal dominant syndrome characterized by ectrodactyly or syndactyly, excessive freckling and dry skin, dysplastic nails, lacrimal duct atresia, primary hypodontia and early loss of permanent teeth. ADULT syndrome is one of five such syndromes that result from mutations in TP63, encoding the transcription factor p63. Until now, only four families and three individuals with ADULT syndrome have been reported in the English literature. We present a 14-year-old female patient with ADULT syndrome and discuss phenotype-genotype correlations in the p63 syndromes.
Department of Dermatology, Rambam Health Care Campus Center for Translational Genetics, Rappaport Institute for Research in the Medical Sciences Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.
This article was published in the following journal.
Name: Pediatric dermatology
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/21078104
- DOI: http://dx.doi.org/10.1111/j.1525-1470.2010.01131.x
Medical and Biotech [MESH] Definitions
Long Qt Syndrome
A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME.
A form of long QT syndrome that is without congenital deafness. It is caused by mutation of the KCNQ1 gene which encodes a protein in the VOLTAGE-GATED POTASSIUM CHANNEL.
Cryopyrin-associated Periodic Syndromes
A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 protein mutations.
An autosomal recessive condition characterized by hypogonadism; spinocerebellar degeneration; MENTAL RETARDATION; RETINITIS PIGMENTOSA; and OBESITY. This syndrome was previously referred to as Laurence-Moon-Biedl syndrome until BARDET-BIEDL SYNDROME was identified as a distinct entity. (From N Engl J Med. 1989 Oct 12;321(15):1002-9)
A rare syndrome characterized by UROGENITAL ABNORMALITIES; GONADAL DYSGENESIS; PSEUDOHERMAPHRODITISM; and WILMS TUMOR. It is caused by a mutation in the Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.
The Proteus syndrome is characterized by the overgrowth of skin, connective tissue, brain, and other tissues. It has been hypothesized that the syndrome is caused by somatic mosaicism for a mutation t...
Tall stature is a common feature of both Marfan syndrome and XYY syndrome. Differential diagnosis between these entities has important prognostic implications. We report the case of a 21-year-old youn...
Temple-Baraitser syndrome, previously described in two unrelated patients, is the association of severe mental retardation and abnormal thumbs and great toes. We report two additional unrelated patien...
INTRODUCTION: Peutz-Jeghers syndrome is a rare autosomal dominantly inherited disease characterized by mucocutaneous pigmentations and gastrointestinal polyps. The polyps are loc...
Sodium Channelopathies: Do We Really Understand? Long-QT syndrome, Brugada syndrome, and conduction disease may be caused by mutations in the cardiac sodium channel gene SCN5A, and from the ECG one ca...
RATIONALE: The identification of gene mutations in individuals who have or are at risk for von Hippel-Lindau syndrome may allow doctors to better determine the genetic processes involved i...
Detect the PHOX2B Mutation-confirmed congenital central hypoventilation syndrome
The variations of ENaC have an impact on the degradation of epithelial sodium channels and sodium reabsorption, and thus are associated with hypertension and hypokalemia. Liddle's syndrom...
Rett Syndrome (RTT) is a genetic brain disorder that occurs almost exclusively in females and is usually caused by a change (mutation) in the gene MECP2. The disorder is characterized by m...
RATIONALE: Pyridoxine may help prevent hand-foot syndrome caused by capecitabine in patients with cancer. It is not yet known whether pyridoxine is more effective than a placebo in prevent...