{"Name":"Limb body wall complex","DiseaseID__c":"GARD:0003251","id":3251,"encodedName":"limb-body-wall-complex","IsDeleted":false,"Disease_Name_Full__c":"Limb body wall complex","Xref_IDs__c":"716106000; C4274839; MEDGEN:906212; MONDO:0016528; ORPHA:2369","USA_Estimate__c":"50,000","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":"80,000 to 800,000","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":3,"Description_Source__c":"MONDO:0016528","Disease_Description__c":"Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts.","GARD_Name__c":"Limb body wall complex","GARD_Synonym__c":"body stalk anomaly; lbwc (limb body wall complex) syndrome; lbwc syndrome","Curated_Disease_Description_Source__c":"GARD:0003251","Curated_Disease_Description__c":"Limb-body wall complex (LBWC) is a condition characterized by multiple, severe congenital abnormalities in a fetus. It typically results in openings in the anterior body wall (chest and belly) and defects of the limbs (arms and legs). Other features of LBWC may include facial clefts; a short or missing umbilical cord; scoliosis; neural tube defects; and abnormalities of the urogenital organs (i.e. kidney, bladder, and/or genitals). The exact cause of LBWC is unclear. The majority of affected pregnancies end in fetal demise.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:2369","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016528","ORPHANET_ID__c":"ORPHA:2369","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Complejo extremidad-pared abdominal","Spanish_Description_Source__c":"ORPHA:2369","Spanish_Description__c":"El complejo extremidad-pared abdominal (LBWC) se caracteriza por anomalías congénitas múltiples en el feto: exencefalia /encefalocele, toraco- y/o abdominosquisis (anomalías de la pared abdominal) y anomalías de los miembros, con o sin hendiduras faciales.","Spanish_Disease_Name__c":"complejo extremidad-pared abdominal","Spanish_GARD_Synonym__c":"anomalía del tallo corporal; síndrome lbwc","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":"Limb-body wall complex (LBWC) is a condition characterized by multiple, severe congenital abnormalities in a fetus. It typically results in openings in the anterior body wall (chest and belly) and defects of the limbs (arms and legs). Other features of LBWC may include facial clefts; a short or missing umbilical cord; scoliosis; neural tube defects; and abnormalities of the urogenital organs (i.e. kidney, bladder, and/or genitals). The exact cause of LBWC is unclear. The majority of affected pregnancies end in fetal demise.","Curated_Disease_Description_Source__c":"GARD:0003251","GARD_Synonym__c":"body stalk anomaly; lbwc (limb body wall complex) syndrome; lbwc syndrome","Name":"Limb body wall complex","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Fetal Health Foundation","Website__c":"https://www.fetalhealthfoundation.org/"}],"GARD_Disease_Tag__c":[{"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":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2369"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2369"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2369"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2369","Source__c":"C4274839; MONDO:0016528; ORPHA:2369","Xref__c":"ORPHA:2369"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716106000","Source__c":"C4274839; MONDO:0016528","Xref__c":"716106000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=906212","Source__c":"C4274839","Xref__c":"MEDGEN:906212"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4274839","Source__c":"C4274839","Xref__c":"C4274839"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016528","Source__c":"GARD:0003251","Xref__c":"MONDO:0016528"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002242","HPO_Synonym__c":"Abnormality of the intestine; Enteropathy","HPO_Name__c":"Abnormal intestine morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in the congenital absence of skin on the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007385","HPO_Synonym__c":"Scalp aplasia cutis congenita","HPO_Name__c":"Aplasia cutis congenita of scalp","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001627","HPO_Synonym__c":"Abnormality of cardiac morphology; Abnormality of the heart; Abnormally shaped heart; Cardiac abnormality; Cardiac anomalies; Cardiac anomaly; Congenital heart defect; Congenital heart defects; Heart defect","HPO_Name__c":"Abnormal heart morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Partial dislocation of the lens of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001132","HPO_Synonym__c":"Partially dislocated lens","HPO_Name__c":"Lens subluxation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","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":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Posterior positioning of the nasal root in relation to the overall facial profile for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005280","HPO_Synonym__c":"Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge","HPO_Name__c":"Depressed nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A coloboma of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000612","HPO_Synonym__c":"Cat eye; Coloboma of iris; Coloboma of the iris; Keyhole iris","HPO_Name__c":"Iris coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010242","HPO_Synonym__c":"Absent innermost bones; Absent proximal phalanges","HPO_Name__c":"Aplasia of the proximal phalanges of the hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased breadth of the nasal bridge (and with it, the nasal root).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000431","HPO_Synonym__c":"Broad nasal bridge; Broad nasal root; Broadened nasal bridge; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Nasal bridge broad; Nasal bridge, wide; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge","HPO_Name__c":"Wide nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001629","HPO_Synonym__c":"Hole in heart wall separating two lower heart chambers; Ventricular septal defects; Ventriculoseptal defect; VSD","HPO_Name__c":"Ventricular septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","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":"ORPHA:2369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased length of the umbilical cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001196","HPO_Synonym__c":"Short umbilical cord","HPO_Name__c":"Short umbilical cord","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a hernia of the diaphragm present at birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000776","HPO_Synonym__c":"Diaphragmatic hernia","HPO_Name__c":"Congenital diaphragmatic hernia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001683","HPO_Name__c":"Ectopia cordis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence (due to failure to form) or underdevelopment of the bones of the upper limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006496","HPO_Synonym__c":"Absent/small bones of the upper limbs; Absent/underdeveloped bones of the upper limbs","HPO_Name__c":"Aplasia/hypoplasia involving bones of the upper limbs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010541","HPO_Synonym__c":"Cutis verticis gyrata; Furrows in thickened skin on top of scalp; Scalp rugae; Thickened folds on top of scalp","HPO_Name__c":"Cutis gyrata of scalp","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006711","HPO_Synonym__c":"Absent/small outermost thorax bone; Absent/underdeveloped thorax bone","HPO_Name__c":"Aplasia/Hypoplasia involving bones of the thorax","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Failure of the chest and abdominal wall to close, which is likely caused by the failure of the ventral wall to close during week 4 of development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100656","HPO_Synonym__c":"Thoracoabdominal schisis","HPO_Name__c":"Thoracoabdominal wall defect","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000765","HPO_Synonym__c":"Abnormality of the chest; Abnormality of the thorax; Structural abnormality of the chest wall","HPO_Name__c":"Abnormal thorax morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002933","HPO_Name__c":"Ventral hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction of corneal clarity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007957","HPO_Synonym__c":"Corneal clouding; Corneal opacities; Reduction of corneal clarity; Scarring or clouding of the cornea of the eye","HPO_Name__c":"Corneal opacity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000077","HPO_Synonym__c":"Abnormal kidney; Abnormality of the kidney; Renal anomalies; Renal anomaly","HPO_Name__c":"Abnormality of the kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Visible increase in width of the hallux without an increase in the dorso-ventral dimension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010055","HPO_Synonym__c":"Abnormally broad great toes; Broad big toe; Broad great toe; Broad great toes; Broad halluces; Wide big toe","HPO_Name__c":"Broad hallux","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004275","HPO_Synonym__c":"Duplication of hand bones","HPO_Name__c":"Duplication of hand bones","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006368","HPO_Name__c":"Forearm reduction defects","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001392","HPO_Synonym__c":"Abnormal liver; Abnormality of the liver; Liver abnormality","HPO_Name__c":"Abnormality of the liver","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Anomalous location of the insertion of umbilical cord in the placenta. Normally, the insertion is at least two centimers distant from the edge of the placenta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011418","HPO_Name__c":"Abnormal insertion of umbilical cord","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040064","HPO_Synonym__c":"Abnormal limbs; Abnormality of limbs; Limb anomaly","HPO_Name__c":"Abnormality of limbs","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","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":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001839","HPO_Synonym__c":"Foot ectrodactyly; Lobster-claw foot deformity; Split foot; Split-foot","HPO_Name__c":"Split foot","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005257","HPO_Synonym__c":"Small chest; Small thorax","HPO_Name__c":"Thoracic hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001195","HPO_Synonym__c":"2 vessel cord; 2 vessel umbilical cord; Only one artery in umbilical cord instead of two; SUA; Two vessel cord; Two vessel umbilical cord; Two-vessel cord","HPO_Name__c":"Single umbilical artery","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Imaging_Ultrasound_Fetal; Imaging_Echocardiogram"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001540","HPO_Synonym__c":"Gap between large left and right abdominal muscles","HPO_Name__c":"Diastasis recti","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002084","HPO_Synonym__c":"Bifid skull; Cranium bifidum","HPO_Name__c":"Encephalocele","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002323","HPO_Synonym__c":"Embryonic anencephaly; Fetal anencephaly","HPO_Name__c":"Anencephaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002414","HPO_Name__c":"Spina bifida","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A progressive form of scoliosis with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008458","HPO_Name__c":"Progressive congenital scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An incomplete closure of the abdominal wall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010866","HPO_Synonym__c":"Abdominal wall defect; Congenital anterior abdominal wall defect","HPO_Name__c":"Abdominal wall defect","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the spinal cord (myelon).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002143","HPO_Synonym__c":"Abnormality of the spinal cord","HPO_Name__c":"Abnormal spinal cord morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A soft tissue continuity in the A/P axis between two fingers 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 fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010554","HPO_Synonym__c":"Cutaneous syndactyly of fingers; Cutaneous syndactyly of hands; Webbed fingers; Webbed skin of fingers","HPO_Name__c":"Cutaneous finger syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002011","HPO_Synonym__c":"Abnormality of the central nervous system; Morphological abnormality of the central nervous system; Morphological abnormality of the CNS","HPO_Name__c":"Morphological central nervous system abnormality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001631","HPO_Synonym__c":"An opening in the wall separating the top two chambers of the heart; ASD; Atria septal defect; Atrial septum defect; Atrioseptal defect; Defect in the atrial septum; Hole in heart wall separating two upper heart chambers","HPO_Name__c":"Atrial septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000453","HPO_Synonym__c":"Blockage of the rear opening of the nasal cavity","HPO_Name__c":"Choanal atresia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003298","HPO_Synonym__c":"Hidden spina bifida","HPO_Name__c":"Spina bifida occulta","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","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:2369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000925","HPO_Synonym__c":"Abnormal spine; Abnormal vertebral column; Abnormality of the spine; Abnormality of the vertebral column","HPO_Name__c":"Abnormality of the vertebral column","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009775","HPO_Synonym__c":"Amniotic bands; Congenital constriction band sequence; Pseudoainhum","HPO_Name__c":"Amniotic constriction ring","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Congenital Abnormality"],"Specialist":["Obstetrics / Gynecology","Pediatrics"]},"synonyms":["body stalk anomaly"," lbwc (limb body wall complex) syndrome"," lbwc syndrome"]}