{"Name":"Ascher syndrome","DiseaseID__c":"GARD:0000201","id":201,"encodedName":"ascher-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Ascher syndrome","Xref_IDs__c":"28599006; C0339085; C562742; MEDGEN:137910; MONDO:0007198; OMIM:109900; ORPHA:1253","USA_Estimate__c":"1,000","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":"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":1,"Description_Source__c":"MONDO:0007198","Disease_Description__c":"A very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported.","GARD_Name__c":"Ascher syndrome","GARD_Synonym__c":"ascher's syndrome; blepharochalasis and double lip; blepharochalasis and double type lip; blepharochalasis-double lip syndrome","Curated_Disease_Description_Source__c":"GARD:0000201","Curated_Disease_Description__c":"Ascher Syndrome is a rare condition characterized by a combination of episodic edema or swelling of the eyelids (blepharochalasia), double lip, and nontoxic thyroid enlargement (goiter). The underlying cause of this condition is unknown. Most cases are sporadic, but familial cases suggestive of autosomal dominant inheritance have also been reported. The condition is often undiagnosed due to its rarity.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1253","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007198","ORPHANET_ID__c":"ORPHA:1253","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ascher","Spanish_Description_Source__c":"ORPHA:1253","Spanish_Description__c":"Es un síndrome muy poco frecuente caracterizado por una combinación de blefarocalasia, doble labio y bocio (crecimiento de la glándula tiroides) con función normal (presente en el 10-50% de los casos), aunque la ocurrencia de los tres signos en la presentación es poco frecuente. La hipertrofia de la zona mucosa del labio, con persistencia del surco horizontal entre las zonas cutánea y mucosa, da una apariencia de doble labio, con afectación más frecuente del labio superior. La blefarocalasia, o edema palpebral episódico, que aparece alrededor de la pubertad, sucede en el 80% de los casos y es, por lo general, bilateral; excepcionalmente, puede conllevar problemas de visión y otras complicaciones oculares. La mayoría de los casos son esporádicos, pero también se han descrito casos familiares (con un posible patrón de herencia autosómico dominante).","Spanish_Disease_Name__c":"síndrome de ascher","Spanish_GARD_Synonym__c":"blefarocalasia  - labio doble; blefarocalasia-labio doble; síndrome de blefarocalasia-labio doble","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":"Ascher Syndrome is a rare condition characterized by a combination of episodic edema or swelling of the eyelids (blepharochalasia), double lip, and nontoxic thyroid enlargement (goiter). The underlying cause of this condition is unknown. Most cases are sporadic, but familial cases suggestive of autosomal dominant inheritance have also been reported. The condition is often undiagnosed due to its rarity.","Curated_Disease_Description_Source__c":"GARD:0000201","GARD_Synonym__c":"ascher's syndrome; blepharochalasis and double lip; blepharochalasis and double type lip; blepharochalasis-double lip syndrome","Name":"Ascher syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1253"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=28599006","Source__c":"C0339085; MONDO:0007198","Xref__c":"28599006"},{"URL__c":"https://www.orpha.net/en/disease/detail/1253","Source__c":"C0339085; MONDO:0007198; ORPHA:1253","Xref__c":"ORPHA:1253"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562742","Source__c":"MONDO:0007198","Xref__c":"C562742"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0339085","Source__c":"C0339085","Xref__c":"C0339085"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=137910","Source__c":"C0339085","Xref__c":"MEDGEN:137910"},{"URL__c":"https://www.omim.org/entry/109900","Source__c":"C0339085; MONDO:0007198; ORPHA:1253","Xref__c":"OMIM:109900"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007198","Source__c":"GARD:0000201","Xref__c":"MONDO:0007198"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1253","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000492","HPO_Synonym__c":"Abnormality of the eyelid; Abnormality of the eyelids","HPO_Name__c":"Abnormal eyelid morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1253","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000581","HPO_Synonym__c":"Decreased width of palpebral fissure; Narrow opening between the eyelids","HPO_Name__c":"Blepharophimosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1253","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Edema in the region of the upper eyelid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012724","HPO_Synonym__c":"Cellulitis of upper eyelid; Fullness of upper eyelid; Puffiness of upper eyelid; Swelling of upper eyelid","HPO_Name__c":"Upper eyelid edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1253","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000445","HPO_Synonym__c":"Broad nose; Increased breadth of nose; Increased nasal breadth; Increased nasal width; Increased width of nose; Wide nose","HPO_Name__c":"Wide nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1253","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004097","HPO_Synonym__c":"Atypical position of finger; Deviated fingers; Finger pointing in a different direction than usual","HPO_Name__c":"Deviation of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1253","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:1253","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1253","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1253","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An enlargement of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000853","HPO_Synonym__c":"Enlarged thyroid gland in neck; Thyroid goiter","HPO_Name__c":"Goiter","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1253","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the upper lip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000177","HPO_Synonym__c":"Abnormality of upper lip","HPO_Name__c":"Abnormal upper lip morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1253","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1253","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000218","HPO_Synonym__c":"Elevated palate; High arched palate; High palate; High, arched palate; High-arched palate; Increased palatal height; Palate high-arched; Palate, high-arched","HPO_Name__c":"High palate","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["ascher's syndrome"," blepharochalasis and double lip"," blepharochalasis and double type lip"," blepharochalasis-double lip syndrome"]}