{"Name":"Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome","DiseaseID__c":"GARD:0017922","id":17922,"encodedName":"multinucleated-neurons-anhydramnios-renal-dysplasia-cerebellar-hypoplasia-hydranencephaly-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome","Xref_IDs__c":"C1856053; C206523; C565507; DOID:0080327; MEDGEN:343465; MONDO:0009359; OMIM:236500; ORPHA:500135","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:500135","Disease_Description__c":"A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by severe hydranencephaly and renal dysplasia or agenesis. Pregnancy is complicated by oligo- or anhydramnios, leading to features of Potter sequence (including typical facies and microretrognathia, limb contractures, talipes equinovarus, and pulmonary hypoplasia) in the fetus. Affected fetuses either die <i>in utero</i> or shortly after birth. Histology of the brain shows widespread presence of multinucleated neurons and glial cells.","GARD_Name__c":"Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome","GARD_Synonym__c":"hydranencephaly with renal aplasia-dysplasia; march syndrome; multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, hydranencephaly syndrome","Curated_Disease_Description_Source__c":"ORPHA:500135","Curated_Disease_Description__c":"A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by severe hydranencephaly and renal dysplasia or agenesis. Pregnancy is complicated by oligo- or anhydramnios, leading to features of Potter sequence (including typical facies and microretrognathia, limb contractures, talipes equinovarus, and pulmonary hypoplasia) in the fetus. Affected fetuses either die in utero or shortly after birth. Histology of the brain shows widespread presence of multinucleated neurons and glial cells.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy","SourceID__c":"ORPHA:500135","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009359","ORPHANET_ID__c":"ORPHA:500135","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de neuronas multinucleadas-anhidramnios-displasia renal-hipoplasia cerebelosa-hidranencefalia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de neuronas multinucleadas-anhidramnios-displasia renal-hipoplasia cerebelosa-hidranencefalia","Spanish_GARD_Synonym__c":"síndrome march","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":"A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by severe hydranencephaly and renal dysplasia or agenesis. Pregnancy is complicated by oligo- or anhydramnios, leading to features of Potter sequence (including typical facies and microretrognathia, limb contractures, talipes equinovarus, and pulmonary hypoplasia) in the fetus. Affected fetuses either die in utero or shortly after birth. Histology of the brain shows widespread presence of multinucleated neurons and glial cells.","Curated_Disease_Description_Source__c":"ORPHA:500135","GARD_Synonym__c":"hydranencephaly with renal aplasia-dysplasia; march syndrome; multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, hydranencephaly syndrome","Name":"Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydran","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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney 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":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:500135"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=343465","Source__c":"C1856053","Xref__c":"MEDGEN:343465"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1856053","Source__c":"C1856053","Xref__c":"C1856053"},{"URL__c":"https://www.omim.org/entry/236500","Source__c":"C1856053; MONDO:0009359; ORPHA:500135","Xref__c":"OMIM:236500"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080327","Source__c":"MONDO:0009359","Xref__c":"DOID:0080327"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565507","Source__c":"MONDO:0009359","Xref__c":"C565507"},{"URL__c":"https://www.orpha.net/en/disease/detail/500135","Source__c":"C1856053; MONDO:0009359; ORPHA:500135","Xref__c":"ORPHA:500135"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009359","Source__c":"GARD:0017922","Xref__c":"MONDO:0009359"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C206523","Source__c":"C1856053","Xref__c":"C206523"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1169358003","Source__c":"C1856053","Xref__c":"1169358003"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CEP55","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:236500","Feature__r":{"HPO_Description__c":"Diminished length of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000470","HPO_Synonym__c":"Decreased length of neck; Short neck","HPO_Name__c":"Short neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:236500","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure of the ureter to undergo development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012300","HPO_Name__c":"Ureteral agenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:236500","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000954","HPO_Synonym__c":"Simian crease; Simian creases; Simian line; Single flexion crease; Single palmar crease; Single palmar creases; Single transverse palmar creases; Transverse palmar crease","HPO_Name__c":"Single transverse palmar crease","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:236500","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cystic lymphatic lesion of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000476","HPO_Synonym__c":"Cystic hygroma of the neck","HPO_Name__c":"Cystic hygroma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:236500","Feature__r":{"HPO_Description__c":"Abnormal narrowing of the choana (the posterior nasal aperture).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000452","HPO_Synonym__c":"Coanal stenosis; Narrowing of the rear opening of the nasal cavity","HPO_Name__c":"Choanal stenosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:236500","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Multiple congenital contractures in different body areas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002804","HPO_Synonym__c":"Arthrogryposis; Arthrogryposis multiplex; Arthrogryposis, congenital; Multiple congenital contractures","HPO_Name__c":"Arthrogryposis multiplex congenita","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:236500","Feature__r":{"HPO_Description__c":"A fluid filled sac in the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000107","HPO_Synonym__c":"Kidney cyst","HPO_Name__c":"Renal cyst","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:236500","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000369","HPO_Synonym__c":"Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia","HPO_Name__c":"Low-set ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:236500","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:236500","Feature__r":{"HPO_Description__c":"Hypoplasia of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000089","HPO_Synonym__c":"Hypoplastic kidney; Hypoplastic kidneys; Small kidneys; Underdeveloped kidneys","HPO_Name__c":"Renal hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:236500","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":"OMIM:236500","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012725","HPO_Synonym__c":"Cutaneous syndactyly of digits; Syndactyly, cutaneous","HPO_Name__c":"Cutaneous syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:236500","Feature__r":{"HPO_Description__c":"A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002009","HPO_Name__c":"Potter facies","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:236500","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001321","HPO_Synonym__c":"Congenital cerebellar hypoplasia; Hypoplasia of cerebellum; Hypoplastic cerebellum; Small cerebellum; Underdeveloped cerebellum","HPO_Name__c":"Cerebellar hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:236500","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:236500","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002324","HPO_Synonym__c":"Hydrancephaly","HPO_Name__c":"Hydranencephaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:236500","Feature__r":{"HPO_Description__c":"Underdevelopment of the brainstem.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002365","HPO_Synonym__c":"Brainstem hypoplasia; Hypoplastic brain stem; Hypoplastic brainstem; Small brainstem; Underdeveloped brainstem","HPO_Name__c":"Hypoplasia of the brainstem","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:236500","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004209","HPO_Synonym__c":"Bilateral fifth digit clinodactyly; Bilateral fifth finger clinodactyly; Clinodactyly of fifth digit; Clinodactyly of the little finger; Fifth finger clinodactyly; Permanent curving of the pinkie finger","HPO_Name__c":"Clinodactyly of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:236500","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Neurons that contain more than one nucleus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:4000150","HPO_Name__c":"Multinucleated neuron","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:236500","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:236500","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Excess skin around the neck, often lying in horizontal folds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005989","HPO_Synonym__c":"Excess neck skin; Excess skin over the neck; Excessive nuchal skin; Redundant neck skin; Redundant nuchal skin; Redundant skin folds of neck; Redundant skin over the neck","HPO_Name__c":"Redundant neck skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:236500","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000110","HPO_Synonym__c":"Dysplastic kidneys; Renal adysplasia","HPO_Name__c":"Renal dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:236500","Feature__r":{"HPO_Description__c":"Decreased width of the nasal ridge.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000418","HPO_Synonym__c":"Decreased width of dorsum of nose; Decreased width of nasal dorsum; Decreased width of nasal ridge; Narrow dorsum of nose; Narrow nasal dorsum; Narrow nasal ridge; Pinched nose; Thin dorsum of nose; Thin nasal dorsum; Thin nasal ridge","HPO_Name__c":"Narrow nasal ridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:236500","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000308","HPO_Synonym__c":"Retromicrognathia; Small retruded chin","HPO_Name__c":"Microretrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:236500","Feature__r":{"HPO_Description__c":"Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000463","HPO_Synonym__c":"Anteverted nose; Anteverted nostrils; Nasal tip, upturned; Nostrils anteverted; Upturned nares; Upturned nasal tip; Upturned nose; Upturned nostrils","HPO_Name__c":"Anteverted nares","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:236500","Feature__r":{"HPO_Description__c":"Increased volume and globular shape of the anteroinferior aspect of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000414","HPO_Synonym__c":"Bulbous nose","HPO_Name__c":"Bulbous nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:236500","Feature__r":{"HPO_Description__c":"Syndactyly with fusion of toes two and three.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004691","HPO_Synonym__c":"2-3 syndactyly of feet; 2-3 toe soft tissue syndactyly; 2-3 toes syndactyly; partial or complete syndactyly 2nd-3rd toes; Syndactyly of second and third toes; Toe syndactyly, 2-3; Webbed 2nd and 3rd toes","HPO_Name__c":"2-3 toe syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:236500","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminished amniotic fluid volume in pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001562","HPO_Synonym__c":"Low levels of amniotic fluid; Maternal oligohydramnios","HPO_Name__c":"Oligohydramnios","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Nephrology","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Neurology","Nephrology","Urologist","Pediatrics"],"Account":["Nephrology"]},"synonyms":["hydranencephaly with renal aplasia-dysplasia"," march syndrome"," multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, hydranencephaly syndrome"]}