{"Name":"Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome","DiseaseID__c":"GARD:0003568","id":3568,"encodedName":"metaphyseal-dysplasia-maxillary-hypoplasia-brachydacty-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome","Xref_IDs__c":"C3549874; DOID:0111513; MEDGEN:762788; MONDO:0007984; OMIM:156510; ORPHA:2504","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":2,"Description_Source__c":"MONDO:0007984","Disease_Description__c":"Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.","GARD_Name__c":"Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome","GARD_Synonym__c":"metaphyseal dysplasia and maxillary hypoplasia with or without brachydactyly; metaphyseal dysplasia with maxillary hypoplasia and brachydactyly; metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly","Curated_Disease_Description_Source__c":"MONDO:0007984","Curated_Disease_Description__c":"Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:2504","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007984","ORPHANET_ID__c":"ORPHA:2504","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de displasia metafisaria-hipoplasia maxilar-braquidactilia","Spanish_Description_Source__c":"ORPHA:2504","Spanish_Description__c":"Es un síndrome caracterizado por displasia metafisaria asociada a talla baja y dismorfia facial (nariz picuda, surco nasolabial corto, labios finos, hipoplasia maxilar, dientes amarillentos distróficos) y anomalías acrales (metacarpianos quintos cortos y/o falanges medias de los dedos segundo y quinto cortas). Se ha descrito en varios miembros a lo largo de cuatro generaciones de una familia franco-canadiense. El síndrome es, probablemente, de transmisión autosómica dominante.","Spanish_Disease_Name__c":"síndrome de displasia metafisaria-hipoplasia maxilar-braquidactilia","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93419","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":"Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.","Curated_Disease_Description_Source__c":"MONDO:0007984","GARD_Synonym__c":"metaphyseal dysplasia and maxillary hypoplasia with or without brachydactyly; metaphyseal dysplasia with maxillary hypoplasia and brachydactyly; metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly","Name":"Metaphyseal dysplasia-maxillary hypoplasia-brachydacty 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":"Orthopedics","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:2504"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2504"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003568","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/2504","Source__c":"C3549874; MONDO:0007984","Xref__c":"ORPHA:2504"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111513","Source__c":"MONDO:0007984","Xref__c":"DOID:0111513"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3549874","Source__c":"C3549874","Xref__c":"C3549874"},{"URL__c":"https://www.omim.org/entry/156510","Source__c":"C3549874; MONDO:0007984; ORPHA:2504","Xref__c":"OMIM:156510"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=762788","Source__c":"C3549874","Xref__c":"MEDGEN:762788"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007984","Source__c":"GARD:0003568","Xref__c":"MONDO:0007984"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RUNX2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/runx2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:156510","Feature__r":{"HPO_Description__c":"Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000327","HPO_Synonym__c":"Decreased size of maxilla; Decreased size of upper jaw; Hypoplasia of upper jaw bones; Hypoplastic maxillary bones; Maxillary deficiency; Maxillary hypoplasia; Maxillary micrognathia; Maxillary retrognathia; Maxillary retrusion; Micromaxilla; Small maxilla; Small upper jaw; Small upper jaw bones; Upper jaw deficiency; Upper jaw retrusion","HPO_Name__c":"Hypoplasia of the maxilla","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:156510","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005877","HPO_Name__c":"Multiple small vertebral fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:156510","Feature__r":{"HPO_Description__c":"The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003015","HPO_Synonym__c":"Flared wide portion of long bone; Flared, widened metaphyses; marked metaphyseal flaring of long bones; Metaphyseal flaring; Metaphyseal flaring of long bones; Metaphyseal splaying; Metaphyses flared; Splayed metaphyses","HPO_Name__c":"Flared metaphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:156510","Feature__r":{"HPO_Description__c":"Osteoporosis affecting predominantly the vertebrae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005625","HPO_Name__c":"Osteoporosis of vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:156510","Feature__r":{"HPO_Description__c":"A flattened vertebral body shape with reduced distance between the vertebral endplates.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000926","HPO_Synonym__c":"Flat vertebral bodies; Flattened vertebrae; Flattened vertebral bodies","HPO_Name__c":"Platyspondyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:156510","Feature__r":{"HPO_Description__c":"Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000233","HPO_Synonym__c":"Decreased volume of lip; Decreased volume of lip vermillion; Thin lips; Thin vermillion","HPO_Name__c":"Thin vermilion border","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:156510","Feature__r":{"HPO_Description__c":"Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000322","HPO_Synonym__c":"Decreased height of philtrum; Decreased length of philtrum; Decreased vertical dimension of philtrum; Vertical hypoplasia of philtrum","HPO_Name__c":"Short philtrum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:156510","Feature__r":{"HPO_Description__c":"Hypoplastic/small middle phalanx of the fifth finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004220","HPO_Synonym__c":"5th finger middle phalangeal hypoplasia; Brachymesophalangism V; Brachymesophalangy V (finger); Fifth finger mid-phalanx hypoplasia; Hypoplastic fifth finger middle phalanx; Hypoplastic middle phalanx of the 5th finger; Hypoplastic/small middle phalanx of the 5th finger; Hypoplastic/small middle phalanx of the little finger; Short middle bone of the little finger; Short middle bone of the pinkie finger; Short middle bone of the pinky finger; Short middle phalanx of the little finger; Type A3 brachydactyly","HPO_Name__c":"Short middle phalanx of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:156510","Feature__r":{"HPO_Description__c":"Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009577","HPO_Synonym__c":"Brachymesophalangy II (finger); Hypoplastic middle index finger phalanx; Hypoplastic/small middle phalanx of the 2nd finger; Short middle bone of index finger","HPO_Name__c":"Short middle phalanx of the 2nd finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:156510","Feature__r":{"HPO_Description__c":"The presence of dysplastic regions in metaphyseal regions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100255","HPO_Name__c":"Metaphyseal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:156510","Feature__r":{"HPO_Description__c":"Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006480","HPO_Synonym__c":"Early tooth loss; Loss of teeth; Premature teeth loss; Premature tooth loss","HPO_Name__c":"Premature loss of teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:156510","Feature__r":{"HPO_Description__c":"Short fifth metacarpal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010047","HPO_Synonym__c":"Fifth metacarpal hypoplasia; Hypoplastic 5th metacarpal; Short fifth metacarpal; Short fifth metacarpals; Shortened 5th long bone of hand","HPO_Name__c":"Short 5th metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:156510","Feature__r":{"HPO_Description__c":"Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000444","HPO_Synonym__c":"Beaked nose; Beaklike protrusion; Convex dorsum of nose; Convex nasal dorsum; Hooked nose; Polly beak nasal deformity","HPO_Name__c":"Convex nasal ridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:156510","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["metaphyseal dysplasia and maxillary hypoplasia with or without brachydactyly"," metaphyseal dysplasia with maxillary hypoplasia and brachydactyly"," metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly"]}