{"Name":"Aplasia cutis congenita","DiseaseID__c":"GARD:0005835","id":5835,"encodedName":"aplasia-cutis-congenita","IsDeleted":false,"Disease_Name_Full__c":"Aplasia cutis congenita","Xref_IDs__c":"35484002; C0282160; C98822; DOID:0080661; HP:0001057; MEDGEN:79390; MONDO:0007145; OMIM:107600; ORPHA:1114","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007145","Disease_Description__c":"A rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. Aplasia cutis congenita (ACC) may occasionally be associated with other anomalies.","GARD_Name__c":"Aplasia cutis congenita","GARD_Synonym__c":"absence of part of skin at birth; acc; acc - aplasia cutis congenita; aplasia cutis congenita (disease); aplasia cutis congenita recessive; aplasia of skin; congenital absence of skin; congenital defect of skull and scalp; congenital scars; cutis aplasia; epitheliogenesis imperfecta","Curated_Disease_Description_Source__c":"GARD:0005835","Curated_Disease_Description__c":"Nonsyndromic aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin (lesions). These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Lesions most commonly occur on the top of the head (skull vertex), although they can be found on the torso or limbs. In some cases, the bone and other tissues under the skin defect are also underdeveloped. Most affected babies have a single lesion. The lesions vary in size and can be differently shaped: some are round or oval, others rectangular, and still others star-shaped. They usually leave a scar after they heal. When the scalp is involved, there may be an absence of hair growth (alopecia) in the affected area. When the underlying bone and other tissues are involved, affected individuals are at higher risk of infections. If these severe defects occur on the head, the membrane that covers the brain (the dura mater) may be exposed, and life-threatening bleeding may occur from nearby vessels. Skin lesions are typically the only feature of nonsyndromic aplasia cutis congenita, although other skin problems and abnormalities of the bones and other tissues occur rarely. However, the characteristic skin lesions can occur as one of many symptoms in other conditions, including Johanson-Blizzard syndrome and Adams-Oliver syndrome. These instances are described as syndromic aplasia cutis congenita.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:1114","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007145","ORPHANET_ID__c":"ORPHA:1114","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aplasia cutis congénita","Spanish_Description_Source__c":"ORPHA:1114","Spanish_Description__c":"Es un trastorno cutáneo poco frecuente caracterizado por la ausencia localizada de piel que, por lo general, se localiza en el cuero cabelludo, aunque puede ocurrir en cualquier parte del cuerpo, incluyendo la cara, el tronco y las extremidades. La aplasia cutis congénita (ACC) puede estar asociada ocasionalmente a otras anomalías.","Spanish_Disease_Name__c":"aplasia cutis congénita","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:89826","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":"Nonsyndromic aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin (lesions). These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Lesions most commonly occur on the top of the head (skull vertex), although they can be found on the torso or limbs. In some cases, the bone and other tissues under the skin defect are also underdeveloped. Most affected babies have a single lesion. The lesions vary in size and can be differently shaped: some are round or oval, others rectangular, and still others star-shaped. They usually leave a scar after they heal. When the scalp is involved, there may be an absence of hair growth (alopecia) in the affected area. When the underlying bone and other tissues are involved, affected individuals are at higher risk of infections. If these severe defects occur on the head, the membrane that covers the brain (the dura mater) may be exposed, and life-threatening bleeding may occur from nearby vessels. Skin lesions are typically the only feature of nonsyndromic aplasia cutis congenita, although other skin problems and abnormalities of the bones and other tissues occur rarely. However, the characteristic skin lesions can occur as one of many symptoms in other conditions, including Johanson-Blizzard syndrome and Adams-Oliver syndrome. These instances are described as syndromic aplasia cutis congenita.","Curated_Disease_Description_Source__c":"GARD:0005835","GARD_Synonym__c":"absence of part of skin at birth; acc; acc - aplasia cutis congenita; aplasia cutis congenita (disease); aplasia cutis congenita recessive; aplasia of skin; congenital absence of skin; congenital defect of skull and scalp; congenital scars; cutis aplasia; epitheliogenesis imperfecta","Name":"Aplasia cutis congenita","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1114"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:1114"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005835","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080661","Source__c":"MONDO:0007145","Xref__c":"DOID:0080661"},{"URL__c":"https://www.orpha.net/en/disease/detail/1114","Source__c":"C0282160; MONDO:0007145; ORPHA:1114","Xref__c":"ORPHA:1114"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98822","Source__c":"C0282160; MONDO:0007145","Xref__c":"C98822"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0282160","Source__c":"C0282160","Xref__c":"C0282160"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=35484002","Source__c":"C0282160; MONDO:0007145","Xref__c":"35484002"},{"URL__c":"https://www.omim.org/entry/107600","Source__c":"C0282160; MONDO:0007145","Xref__c":"OMIM:107600"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=79390","Source__c":"C0282160","Xref__c":"MEDGEN:79390"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254237003","Source__c":"C0282160","Xref__c":"254237003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007145","Source__c":"GARD:0005835","Xref__c":"MONDO:0007145"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001057","Source__c":"C0282160","Xref__c":"HP:0001057"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"BMS1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1114","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004471","HPO_Synonym__c":"Absent cutis congenita of vertex; Aplasia cutis congenita of vertex","HPO_Name__c":"Aplasia cutis congenita over the scalp vertex","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1114","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004348","HPO_Synonym__c":"Abnormality of bone mineralisation and ossification","HPO_Name__c":"Abnormality of bone mineral density","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1114","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007383","HPO_Synonym__c":"Congenital localized skin absence","HPO_Name__c":"Congenital localized absence of skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1114","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001362","HPO_Synonym__c":"Cranial defect; Skull defect","HPO_Name__c":"Calvarial skull defect","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1114","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001057","HPO_Synonym__c":"Absence of part of skin at birth; Congenital absence of skin; Cutis aplasia","HPO_Name__c":"Aplasia cutis congenita","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1114","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001770","HPO_Synonym__c":"Foot syndactyly; Fused toes; Syndactyly of feet; Syndactyly of toes; Webbed toes","HPO_Name__c":"Toe syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1114","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200042","HPO_Synonym__c":"Open skin sore","HPO_Name__c":"Skin ulcer","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1114","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010783","HPO_Synonym__c":"Redness of skin or mucous membrane","HPO_Name__c":"Erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1114","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010628","HPO_Synonym__c":"Bell's palsy; Cranial nerve VII palsy; Facial nerve palsy; Facial nerve paralysis; Facial palsy, unilateral or bilateral; Seventh cranial nerve palsy; VII th cranial nerve palsy","HPO_Name__c":"Facial palsy","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1114","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006101","HPO_Synonym__c":"Partial syndactyly","HPO_Name__c":"Finger syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1114","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003010","HPO_Synonym__c":"Increased bleeding time; Prolonged bleeding time","HPO_Name__c":"Prolonged bleeding time","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1114","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased tolerance to physical touch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:5200061","HPO_Name__c":"Tactile hypersensitivity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1114","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010301","HPO_Synonym__c":"Incomplete closure of the vertebral arch","HPO_Name__c":"Spinal dysraphism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Orthopedics","Pediatrics"],"Account":["Dermatology"]},"synonyms":["absence of part of skin at birth"," acc"," acc - aplasia cutis congenita"," aplasia cutis congenita (disease)"," aplasia cutis congenita recessive"," aplasia of skin"," congenital absence of skin"," congenital defect of skull and scalp"," congenital scars"," cutis aplasia"," epitheliogenesis imperfecta"]}