{"Name":"Ring chromosome 18","DiseaseID__c":"GARD:0006077","id":6077,"encodedName":"ring-chromosome-18","IsDeleted":false,"Disease_Name_Full__c":"Ring chromosome 18","Xref_IDs__c":"88154004; C0265475; C175706; C538304; MEDGEN:539285; MONDO:0015434; ORPHA:1442","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0015434","Disease_Description__c":"A rare autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.","GARD_Name__c":"Ring chromosome 18","GARD_Synonym__c":"chromosome 18 ring; ring 18; ring chromosome 18 syndrome; ring chromosome type 18","Curated_Disease_Description_Source__c":"GARD:0006077","Curated_Disease_Description__c":"Ring chromosome 18 is a rare chromosome abnormality in which the ends (arms) of chromosome 18 join together to form a ring shape. When a ring chromosome forms, genetic material can be lost from either arm or both arms, causing various signs and symptoms. While most people with Ring chromosome 18 have the ring chromosome in all of their body cells, some people also have some body cells with normal chromosomes (this is called mosaicism). People with Ring chromosome 18 mosaicism may have milder symptoms. Depending on the amount of genetic material lost and which genes are involved, signs and symptoms that may be present in a person with Ring chromosome 18 include ear and hearing abnormalities, abnormally-developed feet or hands, genital abnormalities in males, an increased risk to develop juvenile rheumatoid arthritis, holoprosencephaly, developmental delays, learning difficulties, short stature, and/or various birth defects. Ring chromosome 18 usually occurs sporadically (by chance) during the formation of egg or sperm cells or shortly after the egg and sperm join together. Occasionally, it is inherited from a parent (typically the mother). A chromosome test of the parents can help determine whether it was inherited and whether future children have an increased chance to have a chromosome abnormality.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:1442","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015434","ORPHANET_ID__c":"ORPHA:1442","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome del cromosoma 18 en anillo","Spanish_Description_Source__c":"ORPHA:1442","Spanish_Description__c":"Es una anomalía autosómica caracterizada por manifestaciones clínicas variables que incluyen, más comúnmente, hipotonía, dificultades de alimentación neonatal y respiratorias, microcefalia, retraso global del desarrollo y discapacidad intelectual, deficiencia de hormona del crecimiento, hipotiroidismo, pérdida auditiva, atresia auditiva, rasgos faciales dismórficos y características conductuales.","Spanish_Disease_Name__c":"síndrome del cromosoma 18 en anillo","Spanish_GARD_Synonym__c":"anillo 18; cromosoma 18 en anillo","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Ring chromosome 18 is a rare chromosome abnormality in which the ends (arms) of chromosome 18 join together to form a ring shape. When a ring chromosome forms, genetic material can be lost from either arm or both arms, causing various signs and symptoms. While most people with Ring chromosome 18 have the ring chromosome in all of their body cells, some people also have some body cells with normal chromosomes (this is called mosaicism). People with Ring chromosome 18 mosaicism may have milder symptoms. Depending on the amount of genetic material lost and which genes are involved, signs and symptoms that may be present in a person with Ring chromosome 18 include ear and hearing abnormalities, abnormally-developed feet or hands, genital abnormalities in males, an increased risk to develop juvenile rheumatoid arthritis, holoprosencephaly, developmental delays, learning difficulties, short stature, and/or various birth defects. Ring chromosome 18 usually occurs sporadically (by chance) during the formation of egg or sperm cells or shortly after the egg and sperm join together. Occasionally, it is inherited from a parent (typically the mother). A chromosome test of the parents can help determine whether it was inherited and whether future children have an increased chance to have a chromosome abnormality.","Curated_Disease_Description_Source__c":"GARD:0006077","GARD_Synonym__c":"chromosome 18 ring; ring 18; ring chromosome 18 syndrome; ring chromosome type 18","Name":"Ring chromosome 18","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Chromosome 18 Registry & Research Society","Website__c":"https://www.chromosome18.org/"},{"Account_Name__c":"Chromosome Disorder Outreach","Website__c":"https://chromodisorder.org/"},{"Account_Name__c":"Unique","Website__c":"https://rarechromo.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1442"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1442"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:1442"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0265475"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=539285","Source__c":"C0265475","Xref__c":"MEDGEN:539285"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265475","Source__c":"C0265475","Xref__c":"C0265475"},{"URL__c":"https://www.orpha.net/en/disease/detail/1442","Source__c":"C0265475; MONDO:0015434; ORPHA:1442","Xref__c":"ORPHA:1442"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=88154004","Source__c":"C0265475; MONDO:0015434","Xref__c":"88154004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538304","Source__c":"MONDO:0015434","Xref__c":"C538304"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015434","Source__c":"GARD:0006077","Xref__c":"MONDO:0015434"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C175706","Source__c":"C0265475","Xref__c":"C175706"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1442","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001762","HPO_Synonym__c":"Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus","HPO_Name__c":"Talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1442","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1442","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Delayed myelination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012448","HPO_Name__c":"Delayed myelination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1442","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000812","HPO_Synonym__c":"Abnormal internal genitalia","HPO_Name__c":"Abnormal internal genitalia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1442","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1442","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A gap in the lip or lips.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410030","HPO_Synonym__c":"Cleft lip; Cleft of the lip","HPO_Name__c":"Cleft lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1442","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1442","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1442","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1442","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1442","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002463","HPO_Synonym__c":"Language disorder","HPO_Name__c":"Language impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1442","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1442","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1442","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["chromosome 18 ring"," ring 18"," ring chromosome 18 syndrome"," ring chromosome type 18"]}