{"Name":"Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome","DiseaseID__c":"GARD:0022142","id":22142,"encodedName":"frontonasal-dysplasia-bifid-nose-upper-limb-anomalies-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome","Xref_IDs__c":"C5567892; MEDGEN:1799315; MONDO:0035018; ORPHA:521308","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0035018","Disease_Description__c":"A rare syndromic frontonasal dysplasia characterized by distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip, and asymmetry and partial absence of nasal bones, and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis, and anomalies of the hands and feet, such as camptodactyly, oligodactyly, clinodactyly, and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis.","GARD_Name__c":"Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome","GARD_Synonym__c":"frontonasal dysplasia, bifid nose, upper limb anomalies syndrome","Curated_Disease_Description_Source__c":"MONDO:0035018","Curated_Disease_Description__c":"A rare syndromic frontonasal dysplasia characterized by distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip, and asymmetry and partial absence of nasal bones, and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis, and anomalies of the hands and feet, such as camptodactyly, oligodactyly, clinodactyly, and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:521308","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0035018","ORPHANET_ID__c":"ORPHA:521308","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de displasia frontonasal-nariz bífida-anomalías de las extremidades superiores","Spanish_Description_Source__c":"ORPHA:521308","Spanish_Description__c":"Es una displasia frontonasal sindrómica poco frecuente caracterizada por rasgos faciales dismórficos distintivos, incluyendo hipertelorismo, fisuras palpebrales almendradas, deformidad nasal con cresta arrugada, punta nasal deprimida o ausente, asimetría y ausencia parcial de los huesos nasales y comisuras de la boca inclinadas hacia abajo. Otras manifestaciones adicionales descritas son anomalías de las extremidades (p. ej., anomalía Poland, agenesia transversal de las extremidades y anomalías de las manos y los pies, tales como camptodactilia, oligodactilia, clinodactilia y sindactilia), encefalocele frontonasal, atresia de coanas, malformaciones renales/cardíacas congénitas y agenesia del cuerpo calloso","Spanish_Disease_Name__c":"síndrome de displasia frontonasal-nariz bífida-anomalías de las extremidades superiores","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 syndromic frontonasal dysplasia characterized by distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip, and asymmetry and partial absence of nasal bones, and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis, and anomalies of the hands and feet, such as camptodactyly, oligodactyly, clinodactyly, and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis.","Curated_Disease_Description_Source__c":"MONDO:0035018","GARD_Synonym__c":"frontonasal dysplasia, bifid nose, upper limb anomalies syndrome","Name":"Frontonasal dysplasia-bifid nose-upper limb anomalies 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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:521308"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:521308"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5567892","Source__c":"C5567892","Xref__c":"C5567892"},{"URL__c":"https://www.orpha.net/en/disease/detail/521308","Source__c":"C5567892; MONDO:0035018; ORPHA:521308","Xref__c":"ORPHA:521308"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1799315","Source__c":"C5567892","Xref__c":"MEDGEN:1799315"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1177166006","Source__c":"C5567892","Xref__c":"1177166006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0035018","Source__c":"GARD:0022142","Xref__c":"MONDO:0035018"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:521308","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002714","HPO_Synonym__c":"Downturned corners of mouth; Downturned corners of the mouth; Downturned mouth; Downturned oral commisures","HPO_Name__c":"Downturned corners of mouth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:521308","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal difference between the left and right sides of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000324","HPO_Synonym__c":"Asymmetric facies; Asymmetry of face; Asymmetry of right and left side of face; Crooked face; Facial asymmetry; Unsymmetrical face","HPO_Name__c":"Facial asymmetry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:521308","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of anterior encephalocele in which there is a protrusion of the contents of the skull through a breach at the point where the frontal and ethmoidal bones meet. Frontoethmoidal encephalocele can be divided further into three distinct categories: nasofrontal, nasoethmoidal, and nasoorbital.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007330","HPO_Synonym__c":"Frontal encephalocele","HPO_Name__c":"Frontoethmoidal encephalocele","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:521308","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007874","HPO_Synonym__c":"Almond shaped eyes; Almond-shaped opening between the eyelids","HPO_Name__c":"Almond-shaped palpebral fissure","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:521308","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001274","HPO_Synonym__c":"Absence of corpus callosum; Absent corpus callosum; Agenesis of the corpus callosum; Callosal agenesis; Corpus callosum agenesis; Dysplastic or absent corpus callosum","HPO_Name__c":"Agenesis of corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:521308","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality affecting one or both hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001155","HPO_Synonym__c":"Abnormal hands; Abnormality of the hand; Hand anomalies; Hand deformities","HPO_Name__c":"Abnormality of the hand","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:521308","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:521308","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000219","HPO_Synonym__c":"Decreased height of upper lip vermilion; Decreased volume of upper lip; Decreased volume of upper lip vermilion; Thin upper lip; Thin vermilion border of upper lip","HPO_Name__c":"Thin upper lip vermilion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:521308","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:521308","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:521308","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:521308","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008115","HPO_Synonym__c":"3rd toe clinodactyly","HPO_Name__c":"Clinodactyly of the 3rd toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:521308","HPO_Frequency__c":"Frequent (30-79%)","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:521308","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:521308","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the arm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002817","HPO_Synonym__c":"Abnormality of the arm; Abnormality of the upper limb","HPO_Name__c":"Abnormality of the upper limb","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:521308","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:521308","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000453","HPO_Synonym__c":"Blockage of the rear opening of the nasal cavity","HPO_Name__c":"Choanal atresia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:521308","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Thinned, deficient, or excessively arched ala nasi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000430","HPO_Synonym__c":"Ala nasi, underdeveloped; Alar cartilage hypoplasia; Decreased size of nasal alae; Hypoplastic alae nasae; Hypoplastic alae nasi; Hypoplastic alar cartilage; Hypoplastic alar nasae; Hypoplastic nares; Hypoplastic nasal alae; Hypoplastic nasal wings; Hypoplastic nostrils; Nasal cartilage hypoplasia; Small nasal alae; Thin hypoplastic alae nasi; Underdeveloped tissue around nostril","HPO_Name__c":"Underdeveloped nasal alae","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:521308","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in the presence of fewer than the normal number of digits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012165","HPO_Name__c":"Oligodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:521308","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000456","HPO_Synonym__c":"Bifid tip of nose; Cleft nasal tip","HPO_Name__c":"Bifid nasal tip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:521308","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010939","HPO_Synonym__c":"Abnormality of the nasal bone; Anomaly of the nasal bones","HPO_Name__c":"Abnormal nasal bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:521308","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001763","HPO_Synonym__c":"Flat feet; Flat foot","HPO_Name__c":"Pes planus","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["frontonasal dysplasia, bifid nose, upper limb anomalies syndrome"]}