{"Name":"Camptodactyly syndrome, Guadalajara type 2","DiseaseID__c":"GARD:0001068","id":1068,"encodedName":"camptodactyly-syndrome-guadalajara-type-2","IsDeleted":false,"Disease_Name_Full__c":"Camptodactyly syndrome, Guadalajara type 2","Xref_IDs__c":"720603002; C2931680; C567138; MEDGEN:419870; MONDO:0008899; OMIM:211920; ORPHA:1326","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008899","Disease_Description__c":"Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.","GARD_Name__c":"Camptodactyly syndrome, Guadalajara type 2","GARD_Synonym__c":"camptodactyly syndrome guadalajara type 2; guadalajara camptodactyly syndrome type ii","Curated_Disease_Description_Source__c":"MONDO:0008899","Curated_Disease_Description__c":"Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1326","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008899","ORPHANET_ID__c":"ORPHA:1326","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de camptodactilia de guadalajara tipo 2","Spanish_Description_Source__c":"ORPHA:1326","Spanish_Description__c":"El síndrome de camptodactilia de Guadalajara tipo 2 es un síndrome de anomalía congénita múltiple extremadamente raro caracterizado por un distintivo retraso en el crecimiento intrauterino, displasia esquelética con malformaciones múltiples, incluyendo camptodactilia de todos los dedos, hallux valgus bilateral, dedos de los pies segundo, cuarto y quinto cortos, rótula hipoplásica, microcefalia, orejas de implantación baja, cuello corto, cuerpos vertebrales con forma de paralelepípedo, pectus excavatum, dislocación de la cadera y región púbica y genitales hipoplásicos. El síndrome de camptodactilia de Guadalajara tipo 2 se ha descrito en dos hermanas y es muy probable que se transmita de forma autosómica recesiva. No ha habido descripciones posteriores en la literatura desde 1985.","Spanish_Disease_Name__c":"síndrome de camptodactilia de guadalajara tipo 2","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":"Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.","Curated_Disease_Description_Source__c":"MONDO:0008899","GARD_Synonym__c":"camptodactyly syndrome guadalajara type 2; guadalajara camptodactyly syndrome type ii","Name":"Camptodactyly syndrome, Guadalajara type 2","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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1326"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567138","Source__c":"MONDO:0008899","Xref__c":"C567138"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931680","Source__c":"C2931680","Xref__c":"C2931680"},{"URL__c":"https://www.omim.org/entry/211920","Source__c":"C2931680; MONDO:0008899; ORPHA:1326","Xref__c":"OMIM:211920"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720603002","Source__c":"C2931680; MONDO:0008899","Xref__c":"720603002"},{"URL__c":"https://www.orpha.net/en/disease/detail/1326","Source__c":"C2931680; MONDO:0008899; ORPHA:1326","Xref__c":"ORPHA:1326"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419870","Source__c":"C2931680","Xref__c":"MEDGEN:419870"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008899","Source__c":"GARD:0001068","Xref__c":"MONDO:0008899"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1326","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment (hypoplasia) of the second toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001885","HPO_Synonym__c":"Short second toe","HPO_Name__c":"Short 2nd toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1326","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment (hypoplasia) of the third toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005643","HPO_Synonym__c":"Brachydactyly of third toes; Short 3rd toe; Short third toe","HPO_Name__c":"Short 3rd toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1326","HPO_Frequency__c":"Very frequent (80-99%)","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:1326","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment (hypoplasia) of the fifth toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011917","HPO_Synonym__c":"Short fifth toe; Short little toe; Short pinkie toe; Short pinky toe","HPO_Name__c":"Short 5th toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1326","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the patella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003065","HPO_Synonym__c":"Hypoplastic patellae; Small kneecap; Small patella; Small patellae; Underdeveloped kneecap","HPO_Name__c":"Patellar hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1326","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Displacement of the femur from its normal location in the hip joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002827","HPO_Synonym__c":"Dislocated femoral heads; Dislocated hips; Dislocation of hip; Dislocation of the femoral head; Hip dislocation","HPO_Name__c":"Hip dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1326","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001762","HPO_Synonym__c":"Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus","HPO_Name__c":"Talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1326","HPO_Frequency__c":"Very frequent (80-99%)","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:1326","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004634","HPO_Synonym__c":"Cuboid vertebral bodies","HPO_Name__c":"Cuboid-shaped vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1326","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A defect of the chest wall characterized by a depression of the sternum, giving the chest (\\\"pectus\\\") a caved-in (\\\"excavatum\\\") appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000767","HPO_Synonym__c":"Funnel chest","HPO_Name__c":"Pectus excavatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1326","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1326","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100490","HPO_Synonym__c":"Camptodactyly of hands; Camptodactyly of proximal interphalangeal joint; Contractures of the proximal interphalangeal joints of the fingers; Flexion contractures of proximal interphalangeal joints; Permanent flexion of the finger; Proximal interphalangeal finger joint contractures","HPO_Name__c":"Camptodactyly of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1326","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000066","HPO_Synonym__c":"Hypoplastic labia; Underdeveloped labia","HPO_Name__c":"Labial hypoplasia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["camptodactyly syndrome guadalajara type 2"," guadalajara camptodactyly syndrome type ii"]}