{"Name":"Fetal akinesia syndrome, X-linked","DiseaseID__c":"GARD:0002293","id":2293,"encodedName":"fetal-akinesia-syndrome-x-linked","IsDeleted":false,"Disease_Name_Full__c":"Fetal akinesia syndrome, X-linked","Xref_IDs__c":"C1848171; C537921; DOID:0081043; MEDGEN:341166; MONDO:0010242; OMIM:300073","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:300073","Disease_Description__c":"{2:Holmes et al. (1997)} reported male sibs with a possibly X-linked form of fetal akinesia syndrome. One sib died at 11 weeks of age and other sib was stillborn. In both, the pregnancies were characterized by polyhydramnios and hypokinesia. Both had brain malformations (absence of corpus callosum in one; arhinencephaly in the other), telecanthus, and narrow palpebral fissures. (See holoprosencephaly with fetal akinesia/hypokinesia sequence ({306990}).) Only affected male sibs were described in several reports: {5:Mease et al. (1976)}, {4:MacMillan et al. (1985)}, {3:Lammer et al. (1989)}, {1:Gyr et al. (1992)}. This led {2:Holmes et al. (1997)} to suggest that there is an X-linked form of fetal akinesia syndrome(s). Also see fetal akinesia deformation sequence ({208150}).","GARD_Name__c":"Fetal akinesia syndrome, X-linked","GARD_Synonym__c":"polyhydramnios, hypokinesia, brain malformations, telecanthus, and narrow palpebral fissures; x-linked form of fetal akinesia syndrome","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Fetal akinesia syndrome, x-linked is a rare genetic condition that affects movement and development of fetuses. It mostly affects males. The condition can cause too much amniotic fluid around the baby and reduced movement. The brain development and facial features of babies with this syndrome may also be severely affected. Some babies may not survive or may die shortly after birth. This condition is caused by one gene on the X chromosome being different.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:300073","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010242","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Fetal akinesia syndrome, x-linked is a rare genetic condition that affects movement and development of fetuses. It mostly affects males. The condition can cause too much amniotic fluid around the baby and reduced movement. The brain development and facial features of babies with this syndrome may also be severely affected. Some babies may not survive or may die shortly after birth. This condition is caused by one gene on the X chromosome being different.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"polyhydramnios, hypokinesia, brain malformations, telecanthus, and narrow palpebral fissures; x-linked form of fetal akinesia syndrome","Name":"Fetal akinesia syndrome, X-linked","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537921","Source__c":"MONDO:0010242","Xref__c":"C537921"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1848171","Source__c":"C1848171","Xref__c":"C1848171"},{"URL__c":"https://www.omim.org/entry/300073","Source__c":"C1848171; MONDO:0010242","Xref__c":"OMIM:300073"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341166","Source__c":"C1848171","Xref__c":"MEDGEN:341166"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081043","Source__c":"MONDO:0010242","Xref__c":"DOID:0081043"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010242","Source__c":"GARD:0002293","Xref__c":"MONDO:0010242"}],"Inheritance__c":["X-linked"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:300073","Feature__r":{"HPO_Description__c":"Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001989","HPO_Name__c":"Fetal akinesia sequence","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300073","Feature__r":{"HPO_Description__c":"A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000581","HPO_Synonym__c":"Decreased width of palpebral fissure; Narrow opening between the eyelids","HPO_Name__c":"Blepharophimosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300073","Feature__r":{"HPO_Description__c":"The presence of excess amniotic fluid in the uterus during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001561","HPO_Synonym__c":"High levels of amniotic fluid; Hydramnios","HPO_Name__c":"Polyhydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300073","Feature__r":{"HPO_Description__c":"Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000506","HPO_Synonym__c":"Corners of eye widely separated; Dystopia canthorum; Increased distance between medial canthi; Increased intercanthal distance","HPO_Name__c":"Telecanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300073","Feature__r":{"HPO_Description__c":"Reduction in the vertical distance between the upper and lower eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045025","HPO_Synonym__c":"Narrow palpebral fissures; Small opening between the eyelids; Small palpebral fissures","HPO_Name__c":"Narrow palpebral fissure","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300073","Feature__r":{"HPO_Description__c":"Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001274","HPO_Synonym__c":"Absence of corpus callosum; Absent corpus callosum; Agenesis of the corpus callosum; Callosal agenesis; Corpus callosum agenesis; Dysplastic or absent corpus callosum","HPO_Name__c":"Agenesis of corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300073","Feature__r":{"HPO_Description__c":"Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002375","HPO_Synonym__c":"Decreased muscle movement; Decreased spontaneous movement; Decreased spontaneous movements","HPO_Name__c":"Hypokinesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300073","Feature__r":{"HPO_Description__c":"A defect of development of the brain characterized by congenital absence of the part of the brain that includes the olfactory bulbs, tracts, and other structures associated with the sense of smell.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002139","HPO_Synonym__c":"Arhinencephaly","HPO_Name__c":"Arrhinencephaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["polyhydramnios, hypokinesia, brain malformations, telecanthus, and narrow palpebral fissures"," x-linked form of fetal akinesia syndrome"]}