{"Name":"Familial caudal dysgenesis","DiseaseID__c":"GARD:0000215","id":215,"encodedName":"familial-caudal-dysgenesis","IsDeleted":false,"Disease_Name_Full__c":"Familial caudal dysgenesis","Xref_IDs__c":"722493007; C2931053; C99054; MEDGEN:418973; MONDO:0010831; OMIM:600145; ORPHA:1768","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":2,"Description_Source__c":"MONDO:0010831","Disease_Description__c":"A rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies.","GARD_Name__c":"Familial caudal dysgenesis","GARD_Synonym__c":"caudal regression; rudd klimek syndrome; rudd-klimek syndrome","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Familial caudal dysgenesis is a rare genetic condition that happens when a fetus is developing in the womb. It can cause different problems with the lower part of the body, such as having only one umbilical artery or an imperforate (closed) anus. Some people with this condition may have more severe problems, like having their legs fused together. This condition can run in families and may cause other features like heart or bone problems. People with this condition may also have facial differences.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:1768","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0010831","ORPHANET_ID__c":"ORPHA:1768","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Disgenesia caudal familiar","Spanish_Description_Source__c":"ORPHA:1768","Spanish_Description__c":"Es un trastorno genético poco frecuente del desarrollo durante la embriogénesis, caracterizado por diversos grados de disgenesia caudal, que van desde una arteria umbilical única o un ano imperforado hasta una sirenomelia completa, en varios miembros de la misma familia. El fenotipo incluye agenesia lumbosacra, atresia anal o ectopia, anomalías genitourinarias, componentes de la asociación VATER o VACTERL, y dismorfia facial (facies plana, orejas anómalas, pliegues epicánticos bilaterales, puente nasal deprimido, micrognatia). Otros rasgos descritos incluyen anomalías cardiovasculares (como defectos de los cojínes endocárdicos, hipoplasia de la arteria pulmonar) y esqueléticas (cifosis, hemipelvis).","Spanish_Disease_Name__c":"disgenesia caudal familiar","Spanish_GARD_Synonym__c":"síndrome de rudd-klimek","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":"Familial caudal dysgenesis is a rare genetic condition that happens when a fetus is developing in the womb. It can cause different problems with the lower part of the body, such as having only one umbilical artery or an imperforate (closed) anus. Some people with this condition may have more severe problems, like having their legs fused together. This condition can run in families and may cause other features like heart or bone problems. People with this condition may also have facial differences.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"caudal regression; rudd klimek syndrome; rudd-klimek syndrome","Name":"Familial caudal dysgenesis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Pull-thru Network","Website__c":"https://www.pullthrunetwork.org/"}],"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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal 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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1768"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1768"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722493007","Source__c":"C2931053; MONDO:0010831","Xref__c":"722493007"},{"URL__c":"https://www.orpha.net/en/disease/detail/1768","Source__c":"C2931053; MONDO:0010831; ORPHA:1768","Xref__c":"ORPHA:1768"},{"URL__c":"https://www.omim.org/entry/600145","Source__c":"MONDO:0010831","Xref__c":"OMIM:600145"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C99054","Source__c":"MONDO:0010831","Xref__c":"C99054"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931053","Source__c":"C2931053","Xref__c":"C2931053"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=418973","Source__c":"C2931053","Xref__c":"MEDGEN:418973"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010831","Source__c":"GARD:0000215","Xref__c":"MONDO:0010831"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"VANGL1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:600145","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002144","HPO_Synonym__c":"Occult spinal dysraphism","HPO_Name__c":"Tethered cord","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600145","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600145","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600145","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030708","HPO_Name__c":"Myeloschisis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600145","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A dermal sinus tract is an abnormality present at birth over the dorsal midline where an abnormal epithelialized connection from the skin tracks inwards towards the spine, most commonly seen in the lumbosacral region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020223","HPO_Name__c":"Dermal sinus tract","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600145","Feature__r":{"HPO_Description__c":"Inflammation of the meninges.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001287","HPO_Name__c":"Meningitis","Feature_System__c":"Nervous System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600145","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007293","HPO_Name__c":"Anterior sacral meningocele","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600145","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain","HPO_Name__c":"Hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600145","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100565","HPO_Name__c":"Hydromyelia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600145","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002475","HPO_Synonym__c":"Meningomyelocele; Spina bifida cystica","HPO_Name__c":"Myelomeningocele","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600145","Feature__r":{"HPO_Description__c":"Inability to completely empty the urinary bladder during the process of urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000016","HPO_Synonym__c":"Increased post-void residual urine volume","HPO_Name__c":"Urinary retention","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600145","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003418","HPO_Synonym__c":"Back pain","HPO_Name__c":"Back pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600145","Feature__r":{"HPO_Description__c":"Protrusion of the meninges through a defect of the skull or vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002435","HPO_Name__c":"Meningocele","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600145","Feature__r":{"HPO_Description__c":"A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009790","HPO_Name__c":"Hemisacrum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600145","Feature__r":{"HPO_Description__c":"A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000011","HPO_Synonym__c":"Lack of bladder control due to nervous system injury","HPO_Name__c":"Neurogenic bladder","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600145","Feature__r":{"HPO_Description__c":"Presence of a lipoma in the region of the sacrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012033","HPO_Name__c":"Sacral lipoma","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600145","Feature__r":{"HPO_Description__c":"A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are slowly progressive and can grow to a size of 1 to 4 cm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025247","HPO_Name__c":"Dermoid cyst","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600145","Feature__r":{"HPO_Description__c":"Absence (aplasia) of the sacrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010305","HPO_Synonym__c":"Absent sacrum; Sacral agenesis","HPO_Name__c":"Absence of the sacrum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600145","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bilateral clubfoot deformity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001776","HPO_Synonym__c":"Bilateral clubfeet; Bilateral clubfoot; Club foot on both sides","HPO_Name__c":"Bilateral talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600145","Feature__r":{"HPO_Description__c":"A collection of pus in the area of the rectum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005224","HPO_Synonym__c":"Perirectal abscess","HPO_Name__c":"Rectal abscess","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Gastroenterology","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Neurology","Gastroenterology","Orthopedics","Urologist","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["caudal regression"," rudd klimek syndrome"," rudd-klimek syndrome"]}