{"Name":"Mullerian duct anomalies-limb anomalies syndrome","DiseaseID__c":"GARD:0002908","id":2908,"encodedName":"mullerian-duct-anomalies-limb-anomalies-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Mullerian duct anomalies-limb anomalies syndrome","Xref_IDs__c":"C1840335; C537155; MEDGEN:327078; MONDO:0007795; OMIM:146160; ORPHA:2491","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007795","Disease_Description__c":"A rare disorder characterized by the association of mullerian duct and distal limb anomalies. Females present with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males present with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand.","GARD_Name__c":"Mullerian duct anomalies-limb anomalies syndrome","GARD_Synonym__c":"hypomelia with mullerian duct anomalies; limb uterus syndrome; müllerian duct anomalies-limb anomalies syndrome; severe upper limb hypoplasia and mullerian duct anomalies","Curated_Disease_Description_Source__c":"MONDO:0007795","Curated_Disease_Description__c":"A rare disorder characterized by the association of mullerian duct and distal limb anomalies. Females present with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males present with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2491","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007795","ORPHANET_ID__c":"ORPHA:2491","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de anomalías en los conductos mullerianos-anomalías de las extremidades","Spanish_Description_Source__c":"ORPHA:2491","Spanish_Description__c":"Es un síndrome caracterizado por la asociación de anomalías de los conductos de Müller y de las extremidades distales. Se ha descrito en cinco individuos de una misma familia. Las mujeres presentan anomalías que van desde un tabique vaginal hasta la duplicación de útero y vagina, y los varones presentan micropene. Las anomalías de las extremidades varían desde polidactilia postaxial a hipoplasia grave de las extremidades superiores con mano hendida. El modo de transmisión es autosómico dominante.","Spanish_Disease_Name__c":"síndrome de anomalías en los conductos mullerianos-anomalías de las extremidades","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 disorder characterized by the association of mullerian duct and distal limb anomalies. Females present with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males present with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand.","Curated_Disease_Description_Source__c":"MONDO:0007795","GARD_Synonym__c":"hypomelia with mullerian duct anomalies; limb uterus syndrome; müllerian duct anomalies-limb anomalies syndrome; severe upper limb hypoplasia and mullerian duct anomalies","Name":"Mullerian duct anomalies-limb anomalies 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":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Urologist","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:2491"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2491","Source__c":"C1840335; MONDO:0007795","Xref__c":"ORPHA:2491"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=327078","Source__c":"C1840335","Xref__c":"MEDGEN:327078"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1840335","Source__c":"C1840335","Xref__c":"C1840335"},{"URL__c":"https://www.omim.org/entry/146160","Source__c":"C1840335; MONDO:0007795; ORPHA:2491","Xref__c":"OMIM:146160"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537155","Source__c":"MONDO:0007795","Xref__c":"C537155"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007795","Source__c":"GARD:0002908","Xref__c":"MONDO:0007795"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2491","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the ulna.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006495","HPO_Synonym__c":"Absence/underdevelopment of inner forearm bone; Absent-hypoplastic ulnae; Absent/small ulna; Hypoplasia or unilateral/bilateral absence of ulna; Ulnar hypoplasia/aplasia","HPO_Name__c":"Aplasia/Hypoplasia of the ulna","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2491","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of abnormally small extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002983","HPO_Synonym__c":"Smaller or shorter than typical limbs","HPO_Name__c":"Micromelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2491","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of the wrist, the structure connecting the hand and the forearm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003019","HPO_Synonym__c":"Abnormalities of the wrists; Abnormality of the wrist","HPO_Name__c":"Abnormality of the wrist","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2491","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the joint that connects the upper and the lower arm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009811","HPO_Synonym__c":"Abnormality of the elbow; Abnormality of the elbows","HPO_Name__c":"Abnormality of the elbow","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2491","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the humerus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005792","HPO_Synonym__c":"Humeral hypoplasia; Humeral shortening; Hypoplastic humerus; Short humeri; Short humerus; Short long bone of upper arm; Short upper arms","HPO_Name__c":"Short humerus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2491","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:2491","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003762","HPO_Synonym__c":"Didelphic uteri; Didelphic uterus; Didelphyc uterus; Doubling of uterus; Duplex uterus; Duplicated uterus; Duplication of uterus; Uterine didelphis; Uterine didelphys; Uterus didelphis; Uterus didelphus; Uterus duplex","HPO_Name__c":"Uterus didelphys","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2491","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007477","HPO_Synonym__c":"Abnormal fingerprints; Dermatoglyphic abnormalities","HPO_Name__c":"Abnormal dermatoglyphics","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2491","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2491","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008736","HPO_Synonym__c":"Underdeveloped penis","HPO_Name__c":"Hypoplasia of penis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2491","HPO_Frequency__c":"Frequent (30-79%)","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:2491","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001162","HPO_Synonym__c":"Extra little finger; Extra pinkie finger; Extra pinky finger; Polydactyly affecting the 5th finger; Postaxial polydactyly of fingers; Postaxial polydactyly of hand; Postaxial polydactyly of hands","HPO_Name__c":"Postaxial hand polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2491","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:2491","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001171","HPO_Synonym__c":"Ectrodactyly of the hand; Hand ectrodactyly; Split hand; Split-hand","HPO_Name__c":"Split hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Obstetrics / Gynecology","Urologist","Pediatrics"]},"synonyms":["hypomelia with mullerian duct anomalies"," limb uterus syndrome"," müllerian duct anomalies-limb anomalies syndrome"," severe upper limb hypoplasia and mullerian duct anomalies"]}