{"Name":"Abruzzo-Erickson syndrome","DiseaseID__c":"GARD:0000360","id":360,"encodedName":"abruzzo-erickson-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Abruzzo-Erickson syndrome","Xref_IDs__c":"718574003; C1844862; C535559; DOID:0111826; MEDGEN:375529; MONDO:0010554; OMIM:302905; ORPHA:921","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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010554","Disease_Description__c":"An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.","GARD_Name__c":"Abruzzo-Erickson syndrome","GARD_Synonym__c":"abers; abruzzo erickson syndrome; charge like syndrome x-linked; charge-like syndrome; cleft palate with coloboma of eye and deafness syndrome; cleft palate-coloboma-deafness syndrome; cleft palate-coloboma-hearing loss syndrome","Curated_Disease_Description_Source__c":"GARD:0000360","Curated_Disease_Description__c":"Abruzzo-Erickson syndrome is an extremely rare condition characterized by cleft palate, coloboma, hypospadius, deafness, short stature, and radioulnar synostosis. Although the underlying cause of the condition is still being studied, it appears to result, at least in part, from genetic changes in the TBX22 gene. The condition is inherited in an X-linked recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy","SourceID__c":"ORPHA:921","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010554","ORPHANET_ID__c":"ORPHA:921","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de abruzzo-erickson","Spanish_Description_Source__c":"ORPHA:921","Spanish_Description__c":"Es un síndrome de hendidura orofacial caracterizado por paladar hendido, coloboma ocular, hipospadias, hipoacusia mixta conductiva-neurosensorial, talla baja y sinostosis radiocubital.","Spanish_Disease_Name__c":"síndrome de abruzzo-erickson","Spanish_GARD_Synonym__c":"síndrome de paladar hendido-coloboma-hipoacusia; síndrome de paladar hendido-coloboma-sordera; síndrome tipo charge","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":"Abruzzo-Erickson syndrome is an extremely rare condition characterized by cleft palate, coloboma, hypospadius, deafness, short stature, and radioulnar synostosis. Although the underlying cause of the condition is still being studied, it appears to result, at least in part, from genetic changes in the TBX22 gene. The condition is inherited in an X-linked recessive manner.","Curated_Disease_Description_Source__c":"GARD:0000360","GARD_Synonym__c":"abers; abruzzo erickson syndrome; charge like syndrome x-linked; charge-like syndrome; cleft palate with coloboma of eye and deafness syndrome; cleft palate-coloboma-deafness syndrome; cleft palate-coloboma-hearing loss syndrome","Name":"Abruzzo-Erickson 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":"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":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:921"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1844862"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000360","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=375529","Source__c":"C1844862","Xref__c":"MEDGEN:375529"},{"URL__c":"https://www.omim.org/entry/302905","Source__c":"C1844862; MONDO:0010554; ORPHA:921","Xref__c":"OMIM:302905"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111826","Source__c":"MONDO:0010554","Xref__c":"DOID:0111826"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718574003","Source__c":"C1844862; MONDO:0010554","Xref__c":"718574003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535559","Source__c":"MONDO:0010554","Xref__c":"C535559"},{"URL__c":"https://www.orpha.net/en/disease/detail/921","Source__c":"C1844862; MONDO:0010554; ORPHA:921","Xref__c":"ORPHA:921"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1844862","Source__c":"C1844862","Xref__c":"C1844862"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010554","Source__c":"GARD:0000360","Xref__c":"MONDO:0010554"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TBX22","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:921","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:921","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000286","HPO_Synonym__c":"Epicanthal fold; Epicanthal folds; Epicanthic folds; Eye folds; Palpebronasal fold; Plica palpebronasalis; Prominent eye folds","HPO_Name__c":"Epicanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:921","HPO_Frequency__c":"Frequent (30-79%)","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:921","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000272","HPO_Synonym__c":"Decreased size of malar bone; Depressed malar region; Flat cheekbone; Malar hypoplasia; Underdevelopment of malar bone; Zygomatic flattening","HPO_Name__c":"Malar flattening","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:921","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000405","HPO_Synonym__c":"Conduction deafness; Conductive deafness; Conductive hearing loss; Hearing loss, conductive","HPO_Name__c":"Conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:921","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000482","HPO_Synonym__c":"Cornea of eye less than 10mm in diameter; Decreased corneal diameter","HPO_Name__c":"Microcornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:921","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:921","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the palate, i.e., of roof of the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000174","HPO_Synonym__c":"Abnormality of the palate; Abnormality of the roof of the mouth; Palatal anomaly; Palate abnormality","HPO_Name__c":"Abnormal palate morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:921","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of a region of the retina, retinal pigment epithelium, and choroid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000567","HPO_Synonym__c":"Birth defect that causes a hole in the innermost layer at the back of the eye; Choroidoretinal coloboma","HPO_Name__c":"Chorioretinal coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:921","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A persistent midline depression of the skin over the fat pad of the chin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010751","HPO_Synonym__c":"Chin butt; Chin dent; Chin dimple; Chin skin dimple; Dimple chin; Gelasin of chin; Indentation of chin","HPO_Name__c":"Dimple chin","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:921","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of concavity or convexity of the face when viewed in profile.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012368","HPO_Synonym__c":"Flat face; Flat facial profile; Flat facial shape; Flat facies","HPO_Name__c":"Flat face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:921","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A toe that appears disproportionately short compared to the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001831","HPO_Synonym__c":"Brachydactyly of the foot; Hypoplasia of the toe; Hypoplastic toes; Short foot phalanges; Short toe; Short toes; Stubby toes","HPO_Name__c":"Short toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:921","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A coloboma of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000612","HPO_Synonym__c":"Cat eye; Coloboma of iris; Coloboma of the iris; Keyhole iris","HPO_Name__c":"Iris coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:921","HPO_Frequency__c":"Very frequent (80-99%)","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:921","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009465","HPO_Synonym__c":"Finger bends toward pinky; Ulnar Drift","HPO_Name__c":"Ulnar deviation of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:921","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000047","HPO_Synonym__c":"Hypospadia","HPO_Name__c":"Hypospadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:921","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal osseous union (fusion) between the radius and the ulna.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002974","HPO_Synonym__c":"Fused forearm bones","HPO_Name__c":"Radioulnar synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:921","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A mild form of hypospadias in which the urethra opens just under the corona glandis, that is, where the head of the penis meets the shaft.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008743","HPO_Name__c":"Coronal hypospadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:921","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:921","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000400","HPO_Synonym__c":"Large ears; Large pinnae","HPO_Name__c":"Macrotia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:921","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001631","HPO_Synonym__c":"An opening in the wall separating the top two chambers of the heart; ASD; Atria septal defect; Atrial septum defect; Atrioseptal defect; Defect in the atrial septum; Hole in heart wall separating two upper heart chambers","HPO_Name__c":"Atrial septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:921","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:921","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal site of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100542","HPO_Synonym__c":"Abnormal localisation of kidneys","HPO_Name__c":"Abnormal localization of kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:921","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Otolaryngology","Urologist","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["abers"," abruzzo erickson syndrome"," charge like syndrome x-linked"," charge-like syndrome"," cleft palate with coloboma of eye and deafness syndrome"," cleft palate-coloboma-deafness syndrome"," cleft palate-coloboma-hearing loss syndrome"]}