{"Name":"Branchiooculofacial syndrome","DiseaseID__c":"GARD:0003212","id":3212,"encodedName":"branchiooculofacial-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Branchiooculofacial syndrome","Xref_IDs__c":"449821007; C0376524; DOID:0050691; MEDGEN:91261; MONDO:0007235; NBK55063; OMIM:113620; ORPHA:1297","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007235","Disease_Description__c":"A rare, dominantly inherited multiple congenital anomalies syndrome characterized by highly variable clinical phenotype involving the three main affected systems: branchial (cutaneous) defects, ophthalmic malformations and facial anomalies. Additional features can be present.","GARD_Name__c":"Branchiooculofacial syndrome","GARD_Synonym__c":"bof syndrome; bofs; bofs syndrome; branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature ageing; branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging; branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature ageing; branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging; branchio oculo facial syndrome; branchio-oculo-facial syndrome; hemangiomatous branchial clefts-lip pseudocleft syndrome; lip pseudocleft-hemangiomatous branchial cyst syndrome","Curated_Disease_Description_Source__c":"GARD:0003212","Curated_Disease_Description__c":"Branchio-oculo-facial syndrome is a condition that affects development before birth, particularly of structures in the face and neck. Its characteristic features include skin anomalies on the neck, malformations of the eyes and ears, and distinctive facial features. 'Branchio-' refers to the branchial arches, which are structures in the developing embryo that give rise to tissues in the face and neck. In people with branchio-oculo-facial syndrome, the first and second branchial arches do not develop properly, leading to abnormal patches of skin, typically on the neck or near the ears. These patches can be unusually thin, hairy, or red and densely packed with blood vessels (hemangiomatous). In a small number of individuals, tissue from a gland called the thymus is abnormally located on the skin of the neck (dermal thymus). Problems with branchial arch development underlie many of the other features of branchio-oculo-facial syndrome. 'Oculo-' refers to the eyes. Many people with branchio-oculo-facial syndrome have malformations of the eyes that can lead to vision impairment. These abnormalities include unusually small eyeballs (microphthalmia), no eyeballs (anophthalmia), a gap or split in structures that make up the eyes (coloboma), or blockage of the tear ducts (nasolacrimal duct stenosis). Problems with development of the face lead to distinctive facial features in people with branchio-oculo-facial syndrome. Many affected individuals have a split in the upper lip (cleft lip) or a pointed upper lip that resembles a poorly repaired cleft lip (often called a pseudocleft lip) with or without an opening in the roof of the mouth (cleft palate). Other facial characteristics include widely spaced eyes (hypertelorism), an increased distance between the inner corners of the eyes (telecanthus), outside corners of the eyes that point upward (upslanting palpebral fissures), a broad nose with a flattened tip, and weakness of the muscles in the lower face. The ears are also commonly affected, resulting in malformed or prominent ears. Abnormalities of the inner ear or of the tiny bones in the ears (ossicles) can cause hearing loss in people with this condition. Branchio-oculo-facial syndrome can affect other structures and tissues as well. Some affected individuals have kidney abnormalities, such as malformed kidneys or multiple kidney cysts. Nail and teeth abnormalities also occur, and some people with this condition have prematurely graying hair.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:1297","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007235","ORPHANET_ID__c":"ORPHA:1297","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome branquio-óculo-facial","Spanish_Description_Source__c":"ORPHA:1297","Spanish_Description__c":"Es un síndrome de anomalías congénitas múltiples, poco frecuente y de herencia dominante, que se caracteriza por un fenotipo clínico muy variable que afecta a los tres sistemas principales: defectos branquiales (cutáneos), malformaciones oftalmológicas y anomalías faciales. También puede asociar otras características adicionales.","Spanish_Disease_Name__c":"síndrome branquio-óculo-facial","Spanish_GARD_Synonym__c":"síndrome de lee-root-fenske","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":"Branchio-oculo-facial syndrome is a condition that affects development before birth, particularly of structures in the face and neck. Its characteristic features include skin anomalies on the neck, malformations of the eyes and ears, and distinctive facial features. 'Branchio-' refers to the branchial arches, which are structures in the developing embryo that give rise to tissues in the face and neck. In people with branchio-oculo-facial syndrome, the first and second branchial arches do not develop properly, leading to abnormal patches of skin, typically on the neck or near the ears. These patches can be unusually thin, hairy, or red and densely packed with blood vessels (hemangiomatous). In a small number of individuals, tissue from a gland called the thymus is abnormally located on the skin of the neck (dermal thymus). Problems with branchial arch development underlie many of the other features of branchio-oculo-facial syndrome. 'Oculo-' refers to the eyes. Many people with branchio-oculo-facial syndrome have malformations of the eyes that can lead to vision impairment. These abnormalities include unusually small eyeballs (microphthalmia), no eyeballs (anophthalmia), a gap or split in structures that make up the eyes (coloboma), or blockage of the tear ducts (nasolacrimal duct stenosis). Problems with development of the face lead to distinctive facial features in people with branchio-oculo-facial syndrome. Many affected individuals have a split in the upper lip (cleft lip) or a pointed upper lip that resembles a poorly repaired cleft lip (often called a pseudocleft lip) with or without an opening in the roof of the mouth (cleft palate). Other facial characteristics include widely spaced eyes (hypertelorism), an increased distance between the inner corners of the eyes (telecanthus), outside corners of the eyes that point upward (upslanting palpebral fissures), a broad nose with a flattened tip, and weakness of the muscles in the lower face. The ears are also commonly affected, resulting in malformed or prominent ears. Abnormalities of the inner ear or of the tiny bones in the ears (ossicles) can cause hearing loss in people with this condition. Branchio-oculo-facial syndrome can affect other structures and tissues as well. Some affected individuals have kidney abnormalities, such as malformed kidneys or multiple kidney cysts. Nail and teeth abnormalities also occur, and some people with this condition have prematurely graying hair.","Curated_Disease_Description_Source__c":"GARD:0003212","GARD_Synonym__c":"bof syndrome; bofs; bofs syndrome; branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature ageing; branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging; branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature ageing; branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging; branchio oculo facial syndrome; branchio-oculo-facial syndrome; hemangiomatous branchial clefts-lip pseudocleft syndrome; lip pseudocleft-hemangiomatous branchial cyst syndrome","Name":"Branchiooculofacial syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.org/"}],"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":"Otolaryngology","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":"Neonatal","Provided_By__c":"ORPHA:1297"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:1297"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0376524"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003212","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK55063","Source__c":"Gene Review","Xref__c":"NBK55063"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050691","Source__c":"MONDO:0007235","Xref__c":"DOID:0050691"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=91261","Source__c":"C0376524","Xref__c":"MEDGEN:91261"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=449821007","Source__c":"C0376524; MONDO:0007235","Xref__c":"449821007"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0376524","Source__c":"C0376524","Xref__c":"C0376524"},{"URL__c":"https://www.orpha.net/en/disease/detail/1297","Source__c":"C0376524; MONDO:0007235; ORPHA:1297","Xref__c":"ORPHA:1297"},{"URL__c":"https://www.omim.org/entry/113620","Source__c":"C0376524; MONDO:0007235; ORPHA:1297","Xref__c":"OMIM:113620"},{"URL__c":"https://medlineplus.gov/genetics/condition/branchio-oculo-facial-syndrome","Source__c":"GARD:0003212","Xref__c":"https://medlineplus.gov/genetics/condition/branchio-oculo-facial-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007235","Source__c":"GARD:0003212","Xref__c":"MONDO:0007235"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TFAP2A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tfap2a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1297","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001028","HPO_Synonym__c":"Strawberry mark","HPO_Name__c":"Hemangioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1297","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004464","HPO_Synonym__c":"Pit behind the ear; Postauricular earpits; Postauricular fistula; Posterior auricular pit; Posterior auricular sinus","HPO_Name__c":"Postauricular pit","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1297","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002002","HPO_Synonym__c":"Increased depth of philtrum; Philtrum, deep; Prominent philtrum; Pronounced philtrum","HPO_Name__c":"Deep philtrum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1297","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1297","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001177","HPO_Synonym__c":"Extra thumb; Polydactyly affecting the thumb; Preaxial polydactyly of hands; Supernumerary thumb; thumb polydactyly","HPO_Name__c":"Preaxial hand polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Clefting (gap or groove) of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100335","HPO_Synonym__c":"Non-midline cleft of the upper lip; Paramedian cleft of the upper lip","HPO_Name__c":"Non-midline cleft of the upper lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The absence of one or more teeth from the normal series by a failure to develop","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009804","HPO_Synonym__c":"Decreased tooth count; Dental agenesis; Failure of development of some teeth; Reduced number of teeth; Teeth, agenesis","HPO_Name__c":"Tooth agenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1297","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000202","HPO_Synonym__c":"Cleft of the mouth; Oral cleft; Oral clefting","HPO_Name__c":"Orofacial cleft","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1297","HPO_Frequency__c":"Occasional (5-29%)","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:1297","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:1297","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008606","HPO_Synonym__c":"Pit above the ear; Supraauricular fistula; Supraauricular sinus; Supraauricular sinuses","HPO_Name__c":"Supraauricular pit","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1297","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:1297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Development of gray hair at a younger than normal age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002216","HPO_Synonym__c":"Early graying; Premature graying; Premature graying of hair; Premature hair graying","HPO_Name__c":"Premature graying of hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1297","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atypically scarred skin .","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000987","HPO_Synonym__c":"Atypical scarring; Atypical scarring of skin","HPO_Name__c":"Atypical scarring of skin","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased breadth of the nasal bridge (and with it, the nasal root).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000431","HPO_Synonym__c":"Broad nasal bridge; Broad nasal root; Broadened nasal bridge; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Nasal bridge broad; Nasal bridge, wide; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge","HPO_Name__c":"Wide nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000691","HPO_Synonym__c":"Decreased size of tooth; Decreased width of tooth; Small teeth; Small tooth; Tooth hypoplasia; Tooth hypotrophy; Underdeveloped tooth","HPO_Name__c":"Microdontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1297","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000358","HPO_Synonym__c":"Ear, posterior angulation, increased; Ears rotated toward back of head; Posteriorly angulated ears; Posteriorly rotated; Posteriorly rotated auricles; Posteriorly-angulated ears; Posteriorly-rotated ears","HPO_Name__c":"Posteriorly rotated ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1297","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:1297","HPO_Frequency__c":"Occasional (5-29%)","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:1297","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000003","HPO_Synonym__c":"Multicystic dysplastic kidney; Multicystic kidneys; Multicystic renal dysplasia","HPO_Name__c":"Multicystic kidney dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the development of the fingernails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100798","HPO_Synonym__c":"Abnormal fingernail development; Dysplastic fingernails","HPO_Name__c":"Fingernail dysplasia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality in the sound (volume) or cadence (rate) of speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002167","HPO_Synonym__c":"Abnormal speech; Abnormal vocalization; Abnormality of speech or vocalization","HPO_Name__c":"Abnormal speech pattern","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1297","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:1297","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000232","HPO_Synonym__c":"Drooping lower lip; Eclabium of lower lip; Everted lower lip; Everted prominent lower lip; Outward turned lower lip","HPO_Name__c":"Everted lower lip vermilion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1297","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the pinna, which is also referred to as the auricle or external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000377","HPO_Synonym__c":"Abnormal form of ears; Abnormally shaped ears; Auricular malformation; Deformed auricles; Deformed ears; Dysplastic ears; Malformation of auricle; Malformed auricles; Malformed ears; Malformed external ears; Minor malformation of the auricles; Poorly defined conchae","HPO_Name__c":"Abnormal pinna morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1297","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:1297","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:1297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Blockage of the lacrimal duct.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000579","HPO_Synonym__c":"Blocked tear duct; Lacrimal duct obstruction","HPO_Name__c":"Nasolacrimal duct obstruction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000582","HPO_Synonym__c":"Mongoloid slant; Upslanting palpebral fissures; Upward slanted palpebral fissures; Upward slanting of palpebral fissures; Upward slanting of the opening between the eyelids; Upward slanting palpebral fissures","HPO_Name__c":"Upslanted palpebral fissure","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increase in width of the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000455","HPO_Synonym__c":"Broad nasal tip; Broad tip of nose; Broad, upturned nose; Increased breadth of nasal tip; Increased breadth of tip of nose; Increased width of nasal tip; Increased width of tip of nose; Nasal tip, broad; Nasal tip, wide; Wide tip of nose","HPO_Name__c":"Broad nasal tip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001611","HPO_Synonym__c":"Hypernasal voice; Nasal speech; Nasal voice","HPO_Name__c":"Hypernasal speech","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1297","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Severe distention of the kidney with dilation of the renal pelvis and calices.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000126","HPO_Name__c":"Hydronephrosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1297","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Depression located on the vermilion of the upper lip, usually paramedian.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100268","HPO_Name__c":"Upper lip pit","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1297","HPO_Frequency__c":"Very frequent (80-99%)","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:1297","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Small indentation anterior to the insertion of the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004467","HPO_Synonym__c":"Ear pit; Pit in front of the ear; Preauricular earpits; Preauricular fistulas; Preauricular pits; Preauricular sinus","HPO_Name__c":"Preauricular pit","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1297","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Agenesis, that is, failure of the kidney to develop during embryogenesis and development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000104","HPO_Synonym__c":"Absent kidney; Missing kidney; Renal aplasia","HPO_Name__c":"Renal agenesis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["bof syndrome"," bofs"," bofs syndrome"," branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature ageing"," branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging"," branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature ageing"," branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging"," branchio oculo facial syndrome"," branchio-oculo-facial syndrome"," hemangiomatous branchial clefts-lip pseudocleft syndrome"," lip pseudocleft-hemangiomatous branchial cyst syndrome"]}