{"Name":"Growth delay-hydrocephaly-lung hypoplasia syndrome","DiseaseID__c":"GARD:0002427","id":2427,"encodedName":"growth-delay-hydrocephaly-lung-hypoplasia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Growth delay-hydrocephaly-lung hypoplasia syndrome","Xref_IDs__c":"716198008; C1856052; C535406; MEDGEN:344639; MONDO:0009362; OMIM:236640; ORPHA:3035","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009362","Disease_Description__c":"Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.","GARD_Name__c":"Growth delay-hydrocephaly-lung hypoplasia syndrome","GARD_Synonym__c":"game friedman paradice syndrome; game-friedman-paradice syndrome; growth delay with hydrocephalus and lung hypoplasia syndrome; hydrocephalus with associated malformations","Curated_Disease_Description_Source__c":"MONDO:0009362","Curated_Disease_Description__c":"Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy","SourceID__c":"ORPHA:3035","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009362","ORPHANET_ID__c":"ORPHA:3035","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de retraso de crecimiento-hidrocefalia-hipoplasia pulmonar","Spanish_Description_Source__c":"ORPHA:3035","Spanish_Description__c":"El retraso de crecimiento - hidrocefalia - hipoplasia pulmonar, también llamado síndrome de Game-Friedman-Paradice, es un trastorno del desarrollo poco frecuente, descrito hasta la fecha en 4 hermanos, y que se caracteriza por retraso del crecimiento fetal, hidrocefalia con acueducto de Silvio patente, pulmones subdesarrollados, y otras anomalías como mandíbula pequeña, malrotación intestinal, onfalocele, extremidades inferiores cortas, tibias arqueadas y deformidades en los pies.","Spanish_Disease_Name__c":"síndrome de retraso de crecimiento-hidrocefalia-hipoplasia pulmonar","Spanish_GARD_Synonym__c":"síndrome de game-friedman-paradice","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":"Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.","Curated_Disease_Description_Source__c":"MONDO:0009362","GARD_Synonym__c":"game friedman paradice syndrome; game-friedman-paradice syndrome; growth delay with hydrocephalus and lung hypoplasia syndrome; hydrocephalus with associated malformations","Name":"Growth delay-hydrocephaly-lung hypoplasia syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"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":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory 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":"Antenatal","Provided_By__c":"ORPHA:3035"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535406","Source__c":"MONDO:0009362","Xref__c":"C535406"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=344639","Source__c":"C1856052","Xref__c":"MEDGEN:344639"},{"URL__c":"https://www.omim.org/entry/236640","Source__c":"C1856052; MONDO:0009362; ORPHA:3035","Xref__c":"OMIM:236640"},{"URL__c":"https://www.orpha.net/en/disease/detail/3035","Source__c":"C1856052; MONDO:0009362; ORPHA:3035","Xref__c":"ORPHA:3035"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1856052","Source__c":"C1856052","Xref__c":"C1856052"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716198008","Source__c":"C1856052; MONDO:0009362","Xref__c":"716198008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009362","Source__c":"GARD:0002427","Xref__c":"MONDO:0009362"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3035","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the rib.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000772","HPO_Synonym__c":"Abnormality of the ribs; Rib abnormalities; Rib anomalies","HPO_Name__c":"Abnormal rib morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3035","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature of the radius.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002986","HPO_Synonym__c":"Bowed radii; Bowed radius; Bowing of outer large bone of the forearm; Bowing of radius bone of the forearm","HPO_Name__c":"Radial bowing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3035","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3035","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of calcium deposition within the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002514","HPO_Synonym__c":"Abnormal deposits of calcium in the brain","HPO_Name__c":"Cerebral calcification","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3035","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002814","HPO_Synonym__c":"Abnormality of the leg; Abnormality of the lower limb; Lower limb deformities","HPO_Name__c":"Abnormality of the lower limb","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3035","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the formation and mineralization of one or more vertebrae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100569","HPO_Synonym__c":"Abnormal bone maturation of vertebra; Abnormal vertebral ossification; Abnormality of ossification/mineralisation of vertebrae","HPO_Name__c":"Abnormally ossified vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3035","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Leg shortening because of underdevelopment of one or more bones of the lower extremity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009816","HPO_Synonym__c":"Hypoplasia involving bones of the lower limbs; Hypoplasia of the lower limbs; Lower limb undergrowth; Underdeveloped lower limb bones","HPO_Name__c":"Lower limb undergrowth","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3035","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000582","HPO_Synonym__c":"Mongoloid slant; Upslanting palpebral fissures; Upward slanted palpebral fissures; Upward slanting of palpebral fissures; Upward slanting of the opening between the eyelids; Upward slanting palpebral fissures","HPO_Name__c":"Upslanted palpebral fissure","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3035","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature of the tibia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002982","HPO_Synonym__c":"Bowed shankbone; Bowed shinbone; Bowed tibia; Bowing of the tibia","HPO_Name__c":"Tibial bowing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3035","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002089","HPO_Synonym__c":"Hypoplastic lung; Hypoplastic lungs; Lung hypoplasia; Poorly developed lungs; Small lung; Underdeveloped lung","HPO_Name__c":"Pulmonary hypoplasia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3035","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:3035","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the calf bone (fibula), one of the two bones of the calf.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002991","HPO_Synonym__c":"Abnormality of fibula morphology; Abnormality of the calf bone","HPO_Name__c":"Abnormal fibula morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3035","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002410","HPO_Synonym__c":"Aqueduct of Sylvius stenosis; Aqueduct stenosis; Narrowing of aqueduct of Sylvius","HPO_Name__c":"Aqueductal stenosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3035","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002566","HPO_Synonym__c":"Malrotation","HPO_Name__c":"Intestinal malrotation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3035","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001539","HPO_Synonym__c":"Exomphalos; Omphalocoele","HPO_Name__c":"Omphalocele","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3035","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature of a long bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006487","HPO_Synonym__c":"Bowed long bones; Bowing of long bones; Bowing of the long bones; Camptomelia; Diaphyseal bowing; Diaphyseal bowing of long bones","HPO_Name__c":"Bowing of the long bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3035","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology","Congenital Abnormality"],"Specialist":["Genetics","Pulmonology","Pediatrics"]},"synonyms":["game friedman paradice syndrome"," game-friedman-paradice syndrome"," growth delay with hydrocephalus and lung hypoplasia syndrome"," hydrocephalus with associated malformations"]}