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]

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

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

• Developmental Delay

  Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

  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]

  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]

  Both of siblings had mild facial dysmorphism, hypotonia, feeding problems, failure to thrive, developmental delay. She also had dilated cardiomyopathy which differ from other reported patients. [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]

• 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]

• Delayed Milestone

  Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

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]