{"Name":"Limb-mammary syndrome","DiseaseID__c":"GARD:0010051","id":10051,"encodedName":"limb-mammary-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Limb-mammary syndrome","Xref_IDs__c":"721972001; C1863753; C535903; MEDGEN:355051; MONDO:0011334; OMIM:603543; ORPHA:69085","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011334","Disease_Description__c":"A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present.","GARD_Name__c":"Limb-mammary syndrome","GARD_Synonym__c":"limb mammary syndrome; lms; mammary hypoplasia, ectrodactyly, and other hand/foot anomalies","Curated_Disease_Description_Source__c":"MONDO:0011334","Curated_Disease_Description__c":"A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:69085","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011334","ORPHANET_ID__c":"ORPHA:69085","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de extremidades-mamario","Spanish_Description_Source__c":"ORPHA:69085","Spanish_Description__c":"Es un síndrome de displasia ectodérmica poco frecuente, de origen genético, caracterizado por anomalías graves en manos y pies, hipoplasia de mamas y/o pezones y displasia ectodérmica (principalmente anomalías dentarias y ungueales). La hendidura labio/ palatina puede estar presente de forma variable.","Spanish_Disease_Name__c":"síndrome de extremidades-mamario","Spanish_GARD_Synonym__c":"lms","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, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present.","Curated_Disease_Description_Source__c":"MONDO:0011334","GARD_Synonym__c":"limb mammary syndrome; lms; mammary hypoplasia, ectrodactyly, and other hand/foot anomalies","Name":"Limb-mammary syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Foundation for Ectodermal Dysplasias","Website__c":"https://www.nfed.org/"},{"Account_Name__c":"Canadian Ectodermal Dysplasia Syndromes Association","Website__c":"https://ectodermaldysplasia.ca/"}],"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:69085"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:69085"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1863753"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010051","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK43797","Source__c":"Gene Review","Xref__c":"NBK43797"},{"URL__c":"https://www.orpha.net/en/disease/detail/69085","Source__c":"C1863753; MONDO:0011334; ORPHA:69085","Xref__c":"ORPHA:69085"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1863753","Source__c":"C1863753","Xref__c":"C1863753"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=355051","Source__c":"C1863753","Xref__c":"MEDGEN:355051"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535903","Source__c":"MONDO:0011334","Xref__c":"C535903"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721972001","Source__c":"C1863753; MONDO:0011334","Xref__c":"721972001"},{"URL__c":"https://www.omim.org/entry/603543","Source__c":"C1863753; MONDO:0011334; ORPHA:69085","Xref__c":"OMIM:603543"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011334","Source__c":"GARD:0010051","Xref__c":"MONDO:0011334"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TP63","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tp63","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:69085","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410005","HPO_Synonym__c":"Cleft bony palate; Cleft of hard palate","HPO_Name__c":"Cleft hard palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69085","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the breast on both sides.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012814","HPO_Synonym__c":"Two underdeveloped breasts","HPO_Name__c":"Bilateral breast hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69085","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000498","HPO_Synonym__c":"Cellulitis of eyelids; Inflammation of eyelids","HPO_Name__c":"Blepharitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69085","HPO_Frequency__c":"Frequent (30-79%)","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:69085","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69085","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The absence of five or less teeth from the normal series by a failure to develop.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000668","HPO_Synonym__c":"Failure of development of between one and six teeth","HPO_Name__c":"Hypodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69085","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002164","HPO_Synonym__c":"Atypical nail growth; Dysplastic nails; Onychodysplasia","HPO_Name__c":"Nail dysplasia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69085","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure to develop and congenital absence of the breast.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100783","HPO_Synonym__c":"Absent breast; Congenital absence of breast; Mammary gland aplasia","HPO_Name__c":"Breast aplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69085","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A congenital defect characterized by absence of the uterus. Aplasia refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000151","HPO_Synonym__c":"Absent uterus; uterus absent","HPO_Name__c":"Aplasia of the uterus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69085","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000411","HPO_Synonym__c":"Prominent ear; Prominent ears","HPO_Name__c":"Protruding ear","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69085","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"No identifiable superior and/or inferior lacrimal punctum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001092","HPO_Synonym__c":"Absent lacrimal gland puncta; Absent lacrimal openings; Absent lacrimal puncta; Aplasia of lacrimal puncta; Lacrimal puncta aplasia; Lacrimal punctum, absence","HPO_Name__c":"Absent lacrimal punctum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69085","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A noncongenital process of hair loss, which may progress to partial or complete baldness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001596","HPO_Synonym__c":"Hair loss","HPO_Name__c":"Alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69085","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Congenital failure to develop, and absence of, the nipple.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002561","HPO_Synonym__c":"Absent nipple; Absent nipples; Athelia","HPO_Name__c":"Absent nipple","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69085","HPO_Frequency__c":"Occasional (5-29%)","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:69085","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Uvula separated into two parts most easily seen at the tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000193","HPO_Synonym__c":"Bifid palatine uvula; Cleft of uvula; Cleft uvula; Forked uvula; Split uvula; Uvula bifida","HPO_Name__c":"Bifid uvula","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69085","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally diminished capacity to sweat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000966","HPO_Synonym__c":"Decreased ability to sweat; Decreased sweating; Impaired sweating; Inadequate sweating; Oligohidrosis; Sweating, decreased","HPO_Name__c":"Hypohidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69085","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Skin characterized by the lack of natural or normal moisture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000958","HPO_Synonym__c":"Dry skin; Xerosis","HPO_Name__c":"Dry skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69085","HPO_Frequency__c":"Occasional (5-29%)","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:69085","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011819","HPO_Synonym__c":"Partial thickness cleft soft palate; Submucous cleft velum","HPO_Name__c":"Submucous cleft soft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69085","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Aplasia, that is failure to develop, of the ovary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010463","HPO_Synonym__c":"Absent ovary","HPO_Name__c":"Aplasia of the ovary","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69085","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the 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 toes in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001770","HPO_Synonym__c":"Foot syndactyly; Fused toes; Syndactyly of feet; Syndactyly of toes; Webbed toes","HPO_Name__c":"Toe syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69085","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of six or more cafe-au-lait spots.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007565","HPO_Name__c":"Multiple cafe-au-lait spots","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69085","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000564","HPO_Synonym__c":"Imperforate nasolacrimal ducts; Nasolacrimal duct atresia; Unopened tear duct","HPO_Name__c":"Lacrimal duct atresia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69085","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A gap in the lip or lips.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410030","HPO_Synonym__c":"Cleft lip; Cleft of the lip","HPO_Name__c":"Cleft lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69085","HPO_Frequency__c":"Uncommon (<1-4%)","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"}},{"Provided_By__c":"ORPHA:69085","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A soft tissue continuity in the A/P axis between fingers 3 and 4.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011939","HPO_Name__c":"3-4 finger cutaneous syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69085","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001480","HPO_Synonym__c":"Freckling","HPO_Name__c":"Freckling","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69085","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:69085","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003765","HPO_Synonym__c":"Psoriasis","HPO_Name__c":"Psoriasiform dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69085","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000786","HPO_Name__c":"Primary amenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69085","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000272","HPO_Synonym__c":"Decreased size of malar bone; Depressed malar region; Flat cheekbone; Malar hypoplasia; Underdevelopment of malar bone; Zygomatic flattening","HPO_Name__c":"Malar flattening","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69085","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007717","HPO_Name__c":"Chronic irritative conjunctivitis","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Ophthalmology","Dermatology","Orthopedics","Obstetrics / Gynecology","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["limb mammary syndrome"," lms"," mammary hypoplasia, ectrodactyly, and other hand/foot anomalies"]}