They present with a phenotype intermediate between HCS and 2p21 deletion syndrome. BMJ Case Rep. 2009:0-0(2009) [PubMed] [Europe PMC] [uniprot.org]

We now present the transcription content of this region: Multiple splicing variants of the genes protein phosphatase 1B (formerly 2C) magnesium-dependent, beta isoform (PPM1B), SLC3A1, and KIAA0436 (approved gene symbol PREPL) were identified and their [unboundmedicine.com]

On 2p21, however, several overlapping homozygous gene deletion syndromes have been described, all presenting with cystinuria but otherwise distinct phenotypes. [onlinelibrary.wiley.com]

Patients present with generalized hypotonia at birth, failure to thrive, growth retardation and cystinuria type I. [nature.com]

With this case report, we present cardiac manifestation of hypotonia-cystinuria syndrome for the first time. Because of two siblings had hyperechogenic bowel in prenatal sonography, it might be a prenatal marker for HCS. [link.springer.com]

• Poor Feeding

  Hypotonia-cystinuria syndrome (HCS, OMIM606407) is characterized by infantile hypotonia, poor feeding, and growth hormone deficiency. Affected individuals carry homozygous deletions including the cystinuria gene SLC3A1 and the adjacent PREPL gene. [onlinelibrary.wiley.com]

• Disability

  Features Top most frequent phenotypes and symptoms related to 2p21 Microdeletion Syndrome Seizures Global developmental delay Growth delay Failure to thrive Muscular hypotonia Depressed nasal bridge Frontal bossing Hypogonadism Hypoglycemia Intellectual disability [mendelian.co]

• Failure to Thrive

  A rare, genetic disorder of amino acid absorption and transport, characterized by generalized hypotonia at birth, neonatal/infantile failure to thrive (followed by hyperphagia and rapid weight gain in late childhood), cystinuria type 1, nephrolithiasis [ebi.ac.uk]

  Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. [informatics.jax.org]

  […] to thrive Muscular hypotonia Depressed nasal bridge Frontal bossing Hypogonadism Hypoglycemia Intellectual disability, moderate And another 9 symptoms. [mendelian.co]

  Failure to thrive usually persists for several years, followed by a period of hyperphagia and excessive weight gain. Growth retardation is usually observed, which responds well to growth hormone therapy. [eurekaselect.com]

  Implication dans la Maladie: Hypotonia-cystinuria syndrome: Characterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood [antibodies.com]

• Almond-Shaped Eyes

  Dysmorphic features include frontal bossing, almond-shaped eyes, long eyelashes, depressed nasal bridge, and large, posteriorly rotated ears. Renal lithiasis occurs at an early age in all patients. [ncbi.nlm.nih.gov]

• Frontal Bossing

  Dysmorphic features include frontal bossing, almond-shaped eyes, long eyelashes, depressed nasal bridge, and large, posteriorly rotated ears. Renal lithiasis occurs at an early age in all patients. [ncbi.nlm.nih.gov]

  bossing Hypogonadism Hypoglycemia Intellectual disability, moderate And another 9 symptoms. [mendelian.co]

• Depressed Nasal Bridge

  Dysmorphic features include frontal bossing, almond-shaped eyes, long eyelashes, depressed nasal bridge, and large, posteriorly rotated ears. Renal lithiasis occurs at an early age in all patients. [ncbi.nlm.nih.gov]

  nasal bridge Frontal bossing Hypogonadism Hypoglycemia Intellectual disability, moderate And another 9 symptoms. [mendelian.co]

• Neonatal Seizures

  We have previously identified a homozygous deletion of 179,311 bp on chromosome 2p21 as the cause of a unique syndrome, inherited in a recessive mode, consisting of cystinuria, neonatal seizures, hypotonia, severe somatic and developmental delay, facial [unboundmedicine.com]

  The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidaemia. [ncbi.nlm.nih.gov]

  Mendelian Rare Diseases 2P21 MICRODELETION SYNDROME Description The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia. [mendelian.co]

• Forgetful

  2012 14 2p21 Deletions in hypotonia-cystinuria syndrome. 61 Eggermann T...Ensenauer R 22766003 2012 15 Cystinuria: an inborn cause of urolithiasis. 61 Eggermann T...Zerres K 22480232 2012 16 Evaluation of the pediatric patient with hypotonia: don't forget [malacards.org]

  Am J Hum Genet 78:38–51 Article PubMed CAS Google Scholar Jaeken J, Creemers J, Régal L (2012) Evaluation of the pediatric patient with hypotonia: don't forget the hypotonia-cystinuria syndrome! [link.springer.com]

The diagnostic workup in this patient illustrates the need for a careful clinical examination in context with powerful molecular genetic tools in patients with unusual phenotypes. [zora.uzh.ch]

Patients respond well to growth hormone treatment. Electromyography and brain magnetic resonance imaging are normal, when performed. In addition, patients have classical cystinuria type I causing nephrolithiasis at variable ages. [nature.com]

PMID: 26087224 Prognosis Jaeken J, Martens K, Francois I, Eyskens F, Lecointre C, Derua R, Meulemans S, Slootstra JW, Waelkens E, de Zegher F, Creemers JW, Matthijs G Am J Hum Genet 2006 Jan;78(1):38-51. Epub 2005 Nov 23 doi: 10.1086/498852. [ncbi.nlm.nih.gov]

Cancer epidemiology in the last century and the next decade. Nature2001;411(6835):390-5. http://doi.org/cxcvxb. [ Links ] 3. Ferlay J, Shin HR, Bray F, Forman D, Mathers C, Parkin DM. GLOBOCAN 2008: Cancer incidence and mortality worldwide. [scielo.org.co]

Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group. [scielo.org.co]