{"Name":"Nasopalpebral lipoma-coloboma syndrome","DiseaseID__c":"GARD:0003927","id":3927,"encodedName":"nasopalpebral-lipoma-coloboma-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Nasopalpebral lipoma-coloboma syndrome","Xref_IDs__c":"723411003; C1868660; C538338; MEDGEN:358378; MONDO:0008182; OMIM:167730; ORPHA:2399","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008182","Disease_Description__c":"A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.","GARD_Name__c":"Nasopalpebral lipoma-coloboma syndrome","GARD_Synonym__c":"nasopalpebral lipoma coloboma syndrome; palpebral coloboma lipoma syndrome","Curated_Disease_Description_Source__c":"MONDO:0008182","Curated_Disease_Description__c":"A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2399","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008182","ORPHANET_ID__c":"ORPHA:2399","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de lipoma nasopalpebral-coloboma","Spanish_Description_Source__c":"ORPHA:2399","Spanish_Description__c":"Es un síndrome de múltiples anomalías congénitas poco frecuente caracterizado por lipomas nasopalpebrales, coloboma palpebral bilateral y telecanto.","Spanish_Disease_Name__c":"síndrome de lipoma nasopalpebral-coloboma","Spanish_GARD_Synonym__c":null,"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":"A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.","Curated_Disease_Description_Source__c":"MONDO:0008182","GARD_Synonym__c":"nasopalpebral lipoma coloboma syndrome; palpebral coloboma lipoma syndrome","Name":"Nasopalpebral lipoma-coloboma 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":"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:2399"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/167730","Source__c":"C1868660; MONDO:0008182; ORPHA:2399","Xref__c":"OMIM:167730"},{"URL__c":"https://www.orpha.net/en/disease/detail/2399","Source__c":"C1868660; MONDO:0008182; ORPHA:2399","Xref__c":"ORPHA:2399"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538338","Source__c":"MONDO:0008182","Xref__c":"C538338"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=358378","Source__c":"C1868660","Xref__c":"MEDGEN:358378"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723411003","Source__c":"C1868660; MONDO:0008182","Xref__c":"723411003"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1868660","Source__c":"C1868660","Xref__c":"C1868660"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008182","Source__c":"GARD:0003927","Xref__c":"MONDO:0008182"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2399","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030953","HPO_Synonym__c":"Conjunctival injection; Conjunctival vascular congestion","HPO_Name__c":"Conjunctival hyperemia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2399","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by abnormal smallness of both eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007633","HPO_Synonym__c":"Abnormally small eyeball on both sides; Microphthalmia, bilateral","HPO_Name__c":"Bilateral microphthalmos","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2399","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000337","HPO_Synonym__c":"Bitemporal widening; Broad forehead; Increased bitemporal dimension; Increased bitemporal width; Increased width of the forehead; Intertemporal widening; Wide forehead","HPO_Name__c":"Broad forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2399","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000268","HPO_Synonym__c":"Long, narrow head; Tall and narrow skull","HPO_Name__c":"Dolichocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2399","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000378","HPO_Synonym__c":"Cup-shaped ears; Cupped ear; Simple, cup-shaped ears","HPO_Name__c":"Cupped ear","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2399","HPO_Frequency__c":"Frequent (30-79%)","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:2399","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:2399","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000327","HPO_Synonym__c":"Decreased size of maxilla; Decreased size of upper jaw; Hypoplasia of upper jaw bones; Hypoplastic maxillary bones; Maxillary deficiency; Maxillary hypoplasia; Maxillary micrognathia; Maxillary retrognathia; Maxillary retrusion; Micromaxilla; Small maxilla; Small upper jaw; Small upper jaw bones; Upper jaw deficiency; Upper jaw retrusion","HPO_Name__c":"Hypoplasia of the maxilla","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2399","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased distance from the nasal tip to the nasal base.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000437","HPO_Synonym__c":"Caved in nasal tip; Depressed nasal tip; Depressed tip of nose; Flat nasal tip; Flat tip of nose; Flattened nasal tip; Nasal tip, depressed; Nasal tip, recessed; Nasal tip, retruded; Retruded tip of nose","HPO_Name__c":"Depressed nasal tip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2399","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased lacrimation, that is, excessive tearing (watering eye).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009926","HPO_Synonym__c":"Increased lacrimation; Increased tears; Tearing; Watery eyes","HPO_Name__c":"Epiphora","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2399","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002788","HPO_Synonym__c":"Frequent upper respiratory infections; Frequent upper respiratory tract infections; Recurrent colds; Recurrent upper respiratory and lower respiratory infections; Recurrent upper respiratory infection; Recurrent upper respiratory infections; Recurrent URI; Upper respiratory tract infections; Upper respiratory tract infections, recurrent","HPO_Name__c":"Recurrent upper respiratory tract infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2399","HPO_Frequency__c":"Excluded (0%)","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:2399","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the eyelashes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000499","HPO_Synonym__c":"Abnormal eyelashes; Abnormality of the eyelashes; Eyelash abnormality","HPO_Name__c":"Abnormal eyelash morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2399","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031111","HPO_Synonym__c":"Skin hamartoma","HPO_Name__c":"Cutaneous hamartoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2399","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of multiple lipomas (a type of benign tissue made of fatty tissue).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001012","HPO_Synonym__c":"Lipomata; Multiple fatty lumps","HPO_Name__c":"Multiple lipomas","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2399","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004209","HPO_Synonym__c":"Bilateral fifth digit clinodactyly; Bilateral fifth finger clinodactyly; Clinodactyly of fifth digit; Clinodactyly of the little finger; Fifth finger clinodactyly; Permanent curving of the pinkie finger","HPO_Name__c":"Clinodactyly of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2399","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2399","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Fatty tumors on the eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040164","HPO_Synonym__c":"Fatty tumors on the eyelids","HPO_Name__c":"Lipomas of eyelids","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2399","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of strabismus with one or both eyes deviated outward.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000577","HPO_Synonym__c":"Outward facing eye ball","HPO_Name__c":"Exotropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2399","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008850","HPO_Synonym__c":"Marked growth retardation; Severe growth delay in children; Severe postnatal growth deficiency; Severe postnatal growth failure","HPO_Name__c":"Severe postnatal growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2399","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased density/number of eyebrow hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045075","HPO_Synonym__c":"Hypotrichosis of eyebrow; Sparse eyebrow; Sparse eyebrows","HPO_Name__c":"Sparse eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2399","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Congenital absence or closure of the opening of the lacrimal punctum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007820","HPO_Synonym__c":"Atretic lacrimal puncta; Atretic lacrimal punctum","HPO_Name__c":"Lacrimal punctal atresia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2399","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000506","HPO_Synonym__c":"Corners of eye widely separated; Dystopia canthorum; Increased distance between medial canthi; Increased intercanthal distance","HPO_Name__c":"Telecanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2399","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000369","HPO_Synonym__c":"Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia","HPO_Name__c":"Low-set ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2399","HPO_Frequency__c":"Very frequent (80-99%)","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:2399","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of a cartilage of external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:3000022","HPO_Synonym__c":"Abnormality of cartilage of external ear","HPO_Name__c":"Abnormal external ear cartilage morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2399","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by abnormal smallness of one or both eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000568","HPO_Synonym__c":"Abnormally small eyeball; Abnormally small globe of eye; Microphthalmos","HPO_Name__c":"Microphthalmia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2399","HPO_Frequency__c":"Frequent (30-79%)","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:2399","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030670","HPO_Name__c":"Hamartoma of the orbital region","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2399","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Frontal hairline with bilateral arcs to a low point in the midline of the forehead.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000349","HPO_Synonym__c":"Hairline peak; Hairline point; Pointed frontal hairline; Pointed hairline at front of head; V-shaped frontal hairline; Widow's peak","HPO_Name__c":"Widow's peak","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Pediatrics"]},"synonyms":["nasopalpebral lipoma coloboma syndrome"," palpebral coloboma lipoma syndrome"]}