{"Name":"Amniotic band syndrome","DiseaseID__c":"GARD:0000429","id":429,"encodedName":"amniotic-band-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Amniotic band syndrome","Xref_IDs__c":"440214006; C0220724; C84552; D000652; MEDGEN:66322; MONDO:0015167; OMIM:217100; ORPHA:295000","USA_Estimate__c":null,"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":null,"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:0015167","Disease_Description__c":"A group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies.","GARD_Name__c":"Amniotic band syndrome","GARD_Synonym__c":"adam syndrome; amniotic band constriction; amniotic band sequence; amniotic bands; amniotic bands sequence; amniotic deformity-adhesion-mutilation syndrome; congenital constricting bands; congenital ring constrictions; constriction band syndrome; constriction rings syndrome; deformity due to amniotic band; familial amniotic bands; streeter anomaly; streeter dysplasia","Curated_Disease_Description_Source__c":"GARD:0000429","Curated_Disease_Description__c":"Constriction rings syndrome refers to a condition in which bands develop from the inner lining of the amnion. The amnion is the sac that surrounds the baby in the womb. As the baby develops in the womb, the bands may attach to and affect the development of different areas of the body. This may result in constriction of the affected area or even amputation. The signs and symptoms vary greatly depending on the area(s) of the body involved and may include: shortened or absent digits (fingers and/or toes) or limbs (arms and/or legs), an opening in the abdomen through which various abdominal organs can protrude (abdominal wall defects), protrusion of a portion of the brain and its surrounding membranes through a skull defect (encephalocele), and cleft lip and/or palate. In most instances, the cause of constriction rings syndrome remains unknown.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:295000","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015167","ORPHANET_ID__c":"ORPHA:295000","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de anillos de constricción","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de anillos de constricción","Spanish_GARD_Synonym__c":"anillos de constricción congénitos; displasia de streeter; secuencia de bandas amnióticas; síndrome de bandas amnióticas; síndrome de bandas de constricción","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":"Constriction rings syndrome refers to a condition in which bands develop from the inner lining of the amnion. The amnion is the sac that surrounds the baby in the womb. As the baby develops in the womb, the bands may attach to and affect the development of different areas of the body. This may result in constriction of the affected area or even amputation. The signs and symptoms vary greatly depending on the area(s) of the body involved and may include: shortened or absent digits (fingers and/or toes) or limbs (arms and/or legs), an opening in the abdomen through which various abdominal organs can protrude (abdominal wall defects), protrusion of a portion of the brain and its surrounding membranes through a skull defect (encephalocele), and cleft lip and/or palate. In most instances, the cause of constriction rings syndrome remains unknown.","Curated_Disease_Description_Source__c":"GARD:0000429","GARD_Synonym__c":"adam syndrome; amniotic band constriction; amniotic band sequence; amniotic bands; amniotic bands sequence; amniotic deformity-adhesion-mutilation syndrome; congenital constricting bands; congenital ring constrictions; constriction band syndrome; constriction rings syndrome; deformity due to amniotic band; familial amniotic bands; streeter anomaly; streeter dysplasia","Name":"Amniotic band syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"myFace","Website__c":"https://www.myface.org/"},{"Account_Name__c":"Fetal Health Foundation","Website__c":"https://www.fetalhealthfoundation.org/"},{"Account_Name__c":"Reach: The Association for Children with Hand or Arm Deficiency","Website__c":"https://www.reach.org.uk/"},{"Account_Name__c":"Helping Hands Foundation","Website__c":"https://helpinghandsgroup.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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:295000"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:295000"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/295000","Source__c":"C0220724; MONDO:0015167","Xref__c":"ORPHA:295000"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=440214006","Source__c":"MONDO:0015167","Xref__c":"440214006"},{"URL__c":"https://www.omim.org/entry/217100","Source__c":"C0220724; MONDO:0015167; ORPHA:295000","Xref__c":"OMIM:217100"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=66322","Source__c":"C0220724","Xref__c":"MEDGEN:66322"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000652","Source__c":"MONDO:0015167","Xref__c":"D000652"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84552","Source__c":"MONDO:0015167","Xref__c":"C84552"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0220724","Source__c":"C0220724","Xref__c":"C0220724"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015167","Source__c":"GARD:0000429","Xref__c":"MONDO:0015167"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:295000","HPO_Frequency__c":"Occasional (5-29%)","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:295000","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001543","HPO_Name__c":"Gastroschisis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295000","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:295000","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:295000","HPO_Frequency__c":"Occasional (5-29%)","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:295000","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:295000","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295000","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Congenital abnormality with cleft (gap or opening) in the craniofacial bones. Craniofacial cleft includes facial cleft, orofacial clef, and cleft of the jaw.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:5201015","HPO_Name__c":"Craniofacial cleft","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295000","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295000","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin of the arms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010742","HPO_Synonym__c":"Fluid accumulation in upper limbs","HPO_Name__c":"Edema of the upper limbs","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Amniotic constriction rings affecting the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010495","HPO_Name__c":"Amniotic constriction rings of legs","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295000","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in quantity or strength of fetal movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001558","HPO_Synonym__c":"Decreased fetal activity; Decreased fetal movements; Decreased movement in utero; Dminished fetal movement; Fetal hypokinesia; Less than 10 fetal movements in 12 hours; Reduced fetal movement; Reduced fetal movements","HPO_Name__c":"Decreased fetal movement","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295000","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the corpus callosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007370","HPO_Synonym__c":"Absent/hypoplastic corpus callosum; Agenesis/hypoplastic corpus callosum; Complete or partial absence of the corpus callosum; Hypoplasia or absence of the corpus callosum; Hypoplastic or absent corpus callosum","HPO_Name__c":"Aplasia/Hypoplasia of the corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295000","HPO_Frequency__c":"Frequent (30-79%)","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:295000","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008872","HPO_Name__c":"Feeding difficulties in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295000","HPO_Frequency__c":"Frequent (30-79%)","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:295000","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000589","HPO_Synonym__c":"Notched pupil; Ocular coloboma; Ocular colobomas","HPO_Name__c":"Coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295000","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295000","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the arm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002817","HPO_Synonym__c":"Abnormality of the arm; Abnormality of the upper limb","HPO_Name__c":"Abnormality of the upper limb","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295000","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002803","HPO_Synonym__c":"congenital contractures; Congenital joint contractures","HPO_Name__c":"Congenital contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295000","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:295000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A narrow segment of significantly reduced circumference of a digit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010491","HPO_Synonym__c":"Amniotic constriction rings of digits","HPO_Name__c":"Digital constriction ring","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295000","HPO_Frequency__c":"Frequent (30-79%)","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:295000","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:295000","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010741","HPO_Synonym__c":"Edema of the lower limbs; Fluid accumulation in lower limbs; Leg edema; Lower leg swelling; Peripheral edema of lower extremity","HPO_Name__c":"Pedal edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010721","HPO_Synonym__c":"Abnormal hair whorl; Abnormal hair whorls; Abnormal whorl of hair","HPO_Name__c":"Abnormal hair whorl","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Forward prominence of the entire forehead, due to protrusion of the frontal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011220","HPO_Synonym__c":"Prominence of frontal region; Prominent forehead; Pronounced forehead; Protruding forehead","HPO_Name__c":"Prominent forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295000","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Amniotic constriction rings affecting the arms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010483","HPO_Name__c":"Amniotic constriction rings of arms","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Orthopedics","Vascular Medicine","Pediatrics"],"Account":["Dermatology","Congenital limb malformation"]},"synonyms":["adam syndrome"," amniotic band constriction"," amniotic band sequence"," amniotic bands"," amniotic bands sequence"," amniotic deformity-adhesion-mutilation syndrome"," congenital constricting bands"," congenital ring constrictions"," constriction band syndrome"," constriction rings syndrome"," deformity due to amniotic band"," familial amniotic bands"," streeter anomaly"," streeter dysplasia"]}