{"Name":"Bockenheimer syndrome","DiseaseID__c":"GARD:0013063","id":13063,"encodedName":"bockenheimer-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Bockenheimer syndrome","Xref_IDs__c":"C5679814; MEDGEN:1843091; MONDO:0016311; ORPHA:217008","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"GARD:0013063","Disease_Description__c":"Genuine diffuse phlebectasia or Bockenheimer's syndrome is a very rare condition characterized by an extensive venous malformation involving all veins, including the smallest ones, on the arms and legs. It is present at birth (congenital) and is progressive during life. The venous dilatation can be seen beneath the skin on the arms and legs. It is more common on a single arm and hand but may occur on both sides. The involved arm or leg may be thicker than the normal one. Pain, swelling, muscle wasting, and ulceration can occur. The cause is unknown.","GARD_Name__c":"Bockenheimer syndrome","GARD_Synonym__c":"genuine diffuse phlebectasia","Curated_Disease_Description_Source__c":"GARD:0013063","Curated_Disease_Description__c":"Bockenheimer syndrome is a very rare condition characterized by an extensive venous malformation involving all veins, including the smallest ones, on the arms and legs. It is present at birth (congenital) and is progressive during life. The venous dilatation can be seen beneath the skin on the arms and legs. It is more common on a single arm and hand but may occur on both sides. The involved arm or leg may be thicker than the normal one. Pain, swelling, muscle wasting, and ulceration can occur. The cause is unknown.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as a Child","SourceID__c":"ORPHA:217008","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016311","ORPHANET_ID__c":"ORPHA:217008","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de bockenheimer","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de bockenheimer","Spanish_GARD_Synonym__c":"flebectasia difusa genuina","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":"Bockenheimer syndrome is a very rare condition characterized by an extensive venous malformation involving all veins, including the smallest ones, on the arms and legs. It is present at birth (congenital) and is progressive during life. The venous dilatation can be seen beneath the skin on the arms and legs. It is more common on a single arm and hand but may occur on both sides. The involved arm or leg may be thicker than the normal one. Pain, swelling, muscle wasting, and ulceration can occur. The cause is unknown.","Curated_Disease_Description_Source__c":"GARD:0013063","GARD_Synonym__c":"genuine diffuse phlebectasia","Name":"Bockenheimer syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"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":"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":"Childhood","Provided_By__c":"ORPHA:217008"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:217008"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1843091","Source__c":"C5679814","Xref__c":"MEDGEN:1843091"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5679814","Source__c":"C5679814","Xref__c":"C5679814"},{"URL__c":"https://www.orpha.net/en/disease/detail/217008","Source__c":"C5679814; MONDO:0016311; ORPHA:217008","Xref__c":"ORPHA:217008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016311","Source__c":"GARD:0013063","Xref__c":"MONDO:0016311"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:217008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal thinning of the cortical region of bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002753","HPO_Synonym__c":"Thin cortices","HPO_Name__c":"Thin bony cortex","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217008","HPO_Frequency__c":"Very frequent (80-99%)","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:217008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Arm shortening because of underdevelopment of one or more bones of the upper extremity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009824","HPO_Synonym__c":"Hypoplasia involving bones of the upper limbs; Short arms; Shortening of the arms; Upper limb undergrowth","HPO_Name__c":"Upper limb undergrowth","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the humerus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005792","HPO_Synonym__c":"Humeral hypoplasia; Humeral shortening; Hypoplastic humerus; Short humeri; Short humerus; Short long bone of upper arm; Short upper arms","HPO_Name__c":"Short humerus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004936","HPO_Synonym__c":"Blood clot in vein","HPO_Name__c":"Venous thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217008","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A growth pattern that displays an abnormal difference between the left and the right side.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100555","HPO_Synonym__c":"Uneven or disproportionate growth of one body part compared to another","HPO_Name__c":"Asymmetric growth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217008","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:217008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal structure or form of trabecular bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100671","HPO_Synonym__c":"Abnormal shape of spongy bone; Abnormality of bone trabeculation","HPO_Name__c":"Abnormal trabecular bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217008","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100585","HPO_Synonym__c":"Teleangiectasia of the skin","HPO_Name__c":"Telangiectasia of the skin","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003401","HPO_Synonym__c":"Paresthesias; Pins and needles feeling; Tingling","HPO_Name__c":"Paresthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal increase in size of the upper limbs (due to an increase of the size of cells).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010484","HPO_Synonym__c":"Increased size of upper limb","HPO_Name__c":"Hypertrophy of the upper limb","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the skeleton of foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001760","HPO_Synonym__c":"Abnormal feet structure; Abnormality of the feet; Abnormality of the foot; Foot deformities; Foot deformity","HPO_Name__c":"Abnormal foot morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000969","HPO_Synonym__c":"Dropsy; Fluid retention; Hydrops; Oedema; Water retention","HPO_Name__c":"Edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217008","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Overgrowth of only one side of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001528","HPO_Synonym__c":"Asymmetric limb hypertrophy; Asymmetric overgrowth","HPO_Name__c":"Hemihypertrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality affecting one or both hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001155","HPO_Synonym__c":"Abnormal hands; Abnormality of the hand; Hand anomalies; Hand deformities","HPO_Name__c":"Abnormality of the hand","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A functional abnormality of a skeletal muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011804","HPO_Synonym__c":"Abnormality of muscle physiology; Issue with muscle function","HPO_Name__c":"Abnormal muscle physiology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217008","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticeable than normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001015","HPO_Synonym__c":"Marked subcutaneous veins; Prominent veins","HPO_Name__c":"Prominent superficial veins","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217008","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025104","HPO_Name__c":"Capillary malformation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the ulna.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003022","HPO_Synonym__c":"Hypoplastic ulna; Short ulna; Short ulnae; Ulnar hypoplasia; Underdeveloped inner large forearm bone; Underdeveloped ulna","HPO_Name__c":"Hypoplasia of the ulna","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217008","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012721","HPO_Synonym__c":"Venous malformations","HPO_Name__c":"Venous malformation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the radius.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002984","HPO_Synonym__c":"Hypoplastic radii; Hypoplastic radius; Radial hypoplasia; Short radii; Short radius; Shortening of radius; Underdeveloped outer large forearm bone","HPO_Name__c":"Hypoplasia of the radius","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Dermatology"],"Disease Category":["Dermatology","Congenital Abnormality"],"Specialist":["Dermatology","Vascular Medicine","Pediatrics"]},"synonyms":["genuine diffuse phlebectasia"]}