{"Name":"Czeizel-Losonci syndrome","DiseaseID__c":"GARD:0004969","id":4969,"encodedName":"czeizel-losonci-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Czeizel-Losonci syndrome","Xref_IDs__c":"C1866739; C566662; MEDGEN:401071; MONDO:0008467; OMIM:183802; ORPHA:2437","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":3,"Description_Source__c":"MONDO:0008467","Disease_Description__c":"Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987.","GARD_Name__c":"Czeizel-Losonci syndrome","GARD_Synonym__c":"czeizel losonci syndrome; split hand urinary anomalies spina bifida; split hand with obstructive uropathy, spina bifida and diaphragmatic defects; split hand-urinary anomalies-spina bifida syndrome; split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome; split hand, urinary anomalies, spina bifida syndrome; split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects","Curated_Disease_Description_Source__c":"MONDO:0008467","Curated_Disease_Description__c":"Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:2437","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008467","ORPHANET_ID__c":"ORPHA:2437","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de czeizel-losonci","Spanish_Description_Source__c":"ORPHA:2437","Spanish_Description__c":"Es un trastorno malformativo congénito grave, genético y muy poco frecuente, caracterizado por malformación tipo ''mano partida - pie partido'', hidronefrosis y espina bífida. Las manifestaciones espinales y esqueléticas son escoliosis toraco-lumbar, espina bífida (oculta o quística), hernia diafragmática de Bochdalek y anomalías radiales. Desde 1987 no se han publicado nuevos casos en la literatura.","Spanish_Disease_Name__c":"síndrome de czeizel-losonci","Spanish_GARD_Synonym__c":"mano hendida con uropatía obstructiva, espina bífida y defectos diafragmáticos; mano hendida-anomalías urinarias-espina bífida","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":"Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987.","Curated_Disease_Description_Source__c":"MONDO:0008467","GARD_Synonym__c":"czeizel losonci syndrome; split hand urinary anomalies spina bifida; split hand with obstructive uropathy, spina bifida and diaphragmatic defects; split hand-urinary anomalies-spina bifida syndrome; split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome; split hand, urinary anomalies, spina bifida syndrome; split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects","Name":"Czeizel-Losonci syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Reach: The Association for Children with Hand or Arm Deficiency","Website__c":"https://www.reach.org.uk/"},{"Account_Name__c":"Birth Defect Research for Children","Website__c":"https://www.birthdefects.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":"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":"Urologist","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:2437"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2437"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2437"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/183802","Source__c":"C1866739; MONDO:0008467; ORPHA:2437","Xref__c":"OMIM:183802"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566662","Source__c":"MONDO:0008467","Xref__c":"C566662"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1866739","Source__c":"C1866739","Xref__c":"C1866739"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=401071","Source__c":"C1866739","Xref__c":"MEDGEN:401071"},{"URL__c":"https://www.orpha.net/en/disease/detail/2437","Source__c":"C1866739; MONDO:0008467; ORPHA:2437","Xref__c":"ORPHA:2437"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008467","Source__c":"GARD:0004969","Xref__c":"MONDO:0008467"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=732927000","Source__c":"C1866739","Xref__c":"732927000"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal connection (fistula) between the esophagus and the trachea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002575","HPO_Name__c":"Tracheoesophageal fistula","Feature_System__c":"Respiratory system; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000474","HPO_Synonym__c":"Excess nuchal skin; Increased nuchal fold; Increased nuchal fold thickness; Thick nuchal fold; Thickened nuchal skin; Thickened skin folds of neck; Thickened skin over the neck","HPO_Name__c":"Thickened nuchal skin fold","HPO_Feature_Type__c":"Imaging_Ultrasound_Fetal"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Terminal broadening of the toes (distal phalanges of the toes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100760","HPO_Name__c":"Clubbing of toes","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain","HPO_Name__c":"Hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008593","HPO_Synonym__c":"Enlarged antitragus; Hyperplastic antitragus; Hypertrophic antitragus","HPO_Name__c":"Prominent antitragus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001839","HPO_Synonym__c":"Foot ectrodactyly; Lobster-claw foot deformity; Split foot; Split-foot","HPO_Name__c":"Split foot","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental disturbance with extreme ureteral dilatation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008676","HPO_Synonym__c":"Congenital megaloureter; Primary megaloureter; Primary megaureter","HPO_Name__c":"Congenital megaureter","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000954","HPO_Synonym__c":"Simian crease; Simian creases; Simian line; Single flexion crease; Single palmar crease; Single palmar creases; Single transverse palmar creases; Transverse palmar crease","HPO_Name__c":"Single transverse palmar crease","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A soft tissue continuity in the anteroposterior axis between the second to the third fingers that extends distally to at least the level of the proximal interphalangeal joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001233","HPO_Synonym__c":"Syndactyly 2nd-3rd fingers; Syndactyly, 2-3 finger; Webbed 2nd-3rd fingers","HPO_Name__c":"2-3 finger cutaneous syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Frequent (30-79%)","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:2437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Fusion of the third (middle) and fourth (ring) finger, involving soft parts and including fusion of individual finger bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006097","HPO_Synonym__c":"Partial or complete syndactyly 3rd-4th fingers; Webbed 3rd-4th finger; Webbed 3rd-4th fingers","HPO_Name__c":"3-4 finger osseus syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001234","HPO_Synonym__c":"Abducted thumb; Hitchhiker thumb","HPO_Name__c":"Hitchhiker thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Occasional (5-29%)","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:2437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the nipple.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002557","HPO_Synonym__c":"Nipple hypoplasia; Small nipples","HPO_Name__c":"Hypoplastic nipples","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A soft tissue continuity in the anteroposterior axis between the thumb to the index finger that extends distally to at least the level of the proximal interphalangeal joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010704","HPO_Synonym__c":"Webbed 1st-2nd finger; Webbed thumb and index finger","HPO_Name__c":"1-2 finger cutaneous syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025193","HPO_Synonym__c":"Bochdalek hernia","HPO_Name__c":"Posterolateral diaphragmatic hernia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002414","HPO_Name__c":"Spina bifida","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000340","HPO_Synonym__c":"Inclined forehead; Posteriorly sloping forehead; Receding forehead; Sloping forehead","HPO_Name__c":"Sloping forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003298","HPO_Synonym__c":"Hidden spina bifida","HPO_Name__c":"Spina bifida occulta","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Congenital absence of the left half of the diaphragm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009112","HPO_Synonym__c":"Absent left hemidiaphragm; Left diaphragmatic hernia","HPO_Name__c":"Aplasia of the left hemidiaphragm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002944","HPO_Synonym__c":"Scoliosis, thoracolumbar","HPO_Name__c":"Thoracolumbar scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the urinary system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000079","HPO_Synonym__c":"Urinary tract abnormalities; Urinary tract abnormality; Urinary tract anomalies","HPO_Name__c":"Abnormality of the urinary system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the central compartment of the thoracic cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045026","HPO_Synonym__c":"Abnormality of the mediastinum","HPO_Name__c":"Abnormal mediastinum morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the helix, i.e., of the outer rim of the pinna.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008589","HPO_Synonym__c":"Underdeveloped helices","HPO_Name__c":"Hypoplastic helices","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or \\\"mirror reflection\\\") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001651","HPO_Synonym__c":"Heart tip and four chambers point towards right side of body; Thoracic situs inversus","HPO_Name__c":"Dextrocardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002475","HPO_Synonym__c":"Meningomyelocele; Spina bifida cystica","HPO_Name__c":"Myelomeningocele","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100257","HPO_Synonym__c":"Cleft hand; Lobster claw hand","HPO_Name__c":"Ectrodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Occasional (5-29%)","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:2437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A larger than usual distance between the left and right nipple.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006610","HPO_Synonym__c":"Wide-spaced nipples; Widely spaced nipples; Widely-spaced nipples","HPO_Name__c":"Wide intermamillary distance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure of the ureter to undergo development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012300","HPO_Name__c":"Ureteral agenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002089","HPO_Synonym__c":"Hypoplastic lung; Hypoplastic lungs; Lung hypoplasia; Poorly developed lungs; Small lung; Underdeveloped lung","HPO_Name__c":"Pulmonary hypoplasia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2437","HPO_Frequency__c":"Occasional (5-29%)","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:2437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormally thin calvarium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010539","HPO_Synonym__c":"Thin cranial bone","HPO_Name__c":"Thin calvarium","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Urologist","Pediatrics"]},"synonyms":["czeizel losonci syndrome"," split hand urinary anomalies spina bifida"," split hand with obstructive uropathy, spina bifida and diaphragmatic defects"," split hand-urinary anomalies-spina bifida syndrome"," split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome"," split hand, urinary anomalies, spina bifida syndrome"," split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects"]}