{"Name":"Craniofrontonasal dysplasia-Poland anomaly syndrome","DiseaseID__c":"GARD:0000428","id":428,"encodedName":"craniofrontonasal-dysplasia-poland-anomaly-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Craniofrontonasal dysplasia-Poland anomaly syndrome","Xref_IDs__c":"720757001; C4303859; MEDGEN:929528; MONDO:0015464; ORPHA:1521","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":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015464","Disease_Description__c":"A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies.","GARD_Name__c":"Craniofrontonasal dysplasia-Poland anomaly syndrome","GARD_Synonym__c":"craniofrontonasal dysplasia with poland anomaly syndrome; webster deming syndrome; webster-deming syndrome","Curated_Disease_Description_Source__c":"ORPHA:1521","Curated_Disease_Description__c":"Craniofrontonasal dysplasia-Poland anomaly syndrome is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1521","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015464","ORPHANET_ID__c":"ORPHA:1521","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de displasia craneofrontonasal-anomalía de poland","Spanish_Description_Source__c":"ORPHA:1521","Spanish_Description__c":"Es una displasia frontonasal poco frecuente caracterizada por craneosinostosis, anomalía de Poland, displasia craneofrontonasal y anomalías genitales y mamarias. No se han descrito más casos en la literatura desde 1994.","Spanish_Disease_Name__c":"síndrome de displasia craneofrontonasal-anomalía de poland","Spanish_GARD_Synonym__c":"síndrome de webster-deming","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":"Craniofrontonasal dysplasia-Poland anomaly syndrome is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies.","Curated_Disease_Description_Source__c":"ORPHA:1521","GARD_Synonym__c":"craniofrontonasal dysplasia with poland anomaly syndrome; webster deming syndrome; webster-deming syndrome","Name":"Craniofrontonasal dysplasia-Poland anomaly 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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1521"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/1521","Source__c":"C4303859; MONDO:0015464; ORPHA:1521","Xref__c":"ORPHA:1521"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=929528","Source__c":"C4303859","Xref__c":"MEDGEN:929528"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4303859","Source__c":"C4303859","Xref__c":"C4303859"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720757001","Source__c":"C4303859; MONDO:0015464","Xref__c":"720757001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015464","Source__c":"GARD:0000428","Xref__c":"MONDO:0015464"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1521","HPO_Frequency__c":"Very frequent (80-99%)","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:1521","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the fingernails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001231","HPO_Synonym__c":"Abnormal fingernails; Abnormality of the fingernails","HPO_Name__c":"Abnormal fingernail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1521","HPO_Frequency__c":"Very frequent (80-99%)","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:1521","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000465","HPO_Synonym__c":"Neck webbing; Pterygium colli; Webbed neck","HPO_Name__c":"Webbed neck","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1521","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the muscles of the shoulder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001464","HPO_Synonym__c":"Absent/small shoulder muscles; Absent/underdeveloped shoulder muscles","HPO_Name__c":"Aplasia/Hypoplasia involving the shoulder musculature","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1521","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an abnormally short lingual frenulum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000200","HPO_Synonym__c":"Deficiency of lingual frenulum; Short lingual frenum; Short tongue frenulum; Short tongue frenum; Tight lingual frenulum","HPO_Name__c":"Short lingual frenulum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1521","HPO_Frequency__c":"Frequent (30-79%)","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:1521","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009116","HPO_Name__c":"Aplasia/Hypoplasia involving bones of the skull","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1521","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006709","HPO_Synonym__c":"Absent/rudimentary nipples; Absent/small nipples; Absent/underdeveloped nipples; Nipples absent or rudimentary","HPO_Name__c":"Aplasia/Hypoplasia of the nipples","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1521","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hair on the neck extends more inferiorly than usual.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002162","HPO_Synonym__c":"Low hairline at back of neck; Low posterior hair line","HPO_Name__c":"Low posterior hairline","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1521","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural or developmental anomaly of any of the tissues involved in the genital system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012243","HPO_Synonym__c":"Abnormal genital system morphology","HPO_Name__c":"Abnormal reproductive system morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1521","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:1521","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001363","HPO_Synonym__c":"Cranial suture synostosis; Craniosyostosis; Early fusion of cranial sutures; Premature closure of cranial sutures; Premature suture closure","HPO_Name__c":"Craniosynostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1521","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000154","HPO_Synonym__c":"Broad mouth; Large mouth; Large oral aperture; Macrostomia; Wide mouth","HPO_Name__c":"Wide mouth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1521","HPO_Frequency__c":"Very frequent (80-99%)","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:1521","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006008","HPO_Name__c":"Unilateral brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1521","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011959","HPO_Synonym__c":"Small pec muscle on one side; Underdeveloped pec muscle on one side","HPO_Name__c":"Unilateral hypoplasia of pectoralis major muscle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1521","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of more than two nipples.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002558","HPO_Synonym__c":"accessory mamilla; Accessory nipple; Increased nipple number","HPO_Name__c":"Supernumerary nipple","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1521","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the fingers or 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 fingers or toes in a proximo-distal axis are referred to as \\\"symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001159","HPO_Synonym__c":"Webbed fingers or toes","HPO_Name__c":"Syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1521","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal groove on the midline of the nose that may extend to the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004112","HPO_Synonym__c":"Central nasal groove; Midline nasal groove","HPO_Name__c":"Midline nasal groove","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1521","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Asymmetry or size difference between the left and right nostril.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009930","HPO_Synonym__c":"Asymmetry of nostrils; Crooked nostrils; Unequal nostril shape; Unequal nostril size; Uneven nostril shape; Uneven nostril size","HPO_Name__c":"Asymmetry of the nares","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1521","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001357","HPO_Synonym__c":"Flat head syndrome; Flattening of cranial vault; Flattening of cranium; Flattening of skull; Rhomboid shaped cranium; Rhomboid shaped skull","HPO_Name__c":"Plagiocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1521","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001540","HPO_Synonym__c":"Gap between large left and right abdominal muscles","HPO_Name__c":"Diastasis recti","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1521","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030867","HPO_Synonym__c":"Eyes at different heights; Misaligned eyes; Unequal eye height","HPO_Name__c":"Vertical orbital dystopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1521","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a bifid uterus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000136","HPO_Name__c":"Bifid uterus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1521","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Orthopedics","Obstetrics / Gynecology","Pediatrics"]},"synonyms":["craniofrontonasal dysplasia with poland anomaly syndrome"," webster deming syndrome"," webster-deming syndrome"]}