{ "id": 18363, "label": "acrofacial dysostosis", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0018237", "properties": { "xrefs": [ "DOID:0060379", "GARD:0021574", "MEDGEN:272278", "NCIT:C35795", "Orphanet:364574", "UMLS:C1332140", "icd11.foundation:1702160042" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "isLeaf": false, "isRoot": false, "child_count": 14, "parents": [ { "id": 5714, "label": "hereditary disease", "isLeaf": false, "isRoot": false, "parents": [ 29382 ], "type_id": 0, "properties": { "xrefs": [ "DOID:630", "EFO:0000508", "ICD9:799.89", "MEDGEN:5527", "MESH:D030342", "NCIT:C3101", "SCTID:32895009", "UMLS:C0019247" ], "synonyms": [ "genetic condition", "genetic disease", "genetic disorder", "hereditary disease", "hereditary disease or disorder", "hereditary diseases", "inherited disease", "inherited genetic disease", "molecular disease", "Mendelian disease", "familial disorder", "inborn disorder" ], "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome." }, "child_count": 1925, "reference_id": "MONDO:0003847" }, { "id": 18362, "label": "dysostosis", "isLeaf": false, "isRoot": false, "parents": [ 7153 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1934", "ICD9:756.9", "MEDGEN:4430", "MESH:D004413", "NCIT:C34560", "Orphanet:364559", "SCTID:109420003", "UMLS:C0013393" ], "synonyms": [ "dysostosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones." }, "child_count": 108, "reference_id": "MONDO:0018234" }, { "id": 18956, "label": "congenital limb malformation", "isLeaf": false, "isRoot": false, "parents": [ 19507 ], "type_id": 0, "properties": { "xrefs": [ "Orphanet:68378" ], "synonyms": [ "congenital limb malformation" ] }, "child_count": 107, "reference_id": "MONDO:0019054" } ], "children": [ { "id": 8464, "label": "acrofacial dysostosis, Catania type", "isLeaf": true, "isRoot": false, "parents": [ 16087, 18363 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060384", "GARD:0000494", "MEDGEN:419487", "MESH:C538182", "OMIM:101805", "Orphanet:1786", "SCTID:720419000", "UMLS:C2931762", "icd11.foundation:750680130" ], "synonyms": [ "Opitz-Caltabiano syndrome", "acrofacial dysostosis, Catania type", "AFD Catania type", "Afd, Catania type", "acrofacial dysostosis Catania type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males." }, "child_count": 0, "reference_id": "MONDO:0007045" }, { "id": 9757, "label": "Patterson-Stevenson-Fontaine syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18363 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004260", "MEDGEN:1808766", "OMIM:183700", "Orphanet:2439", "SCTID:724069009", "UMLS:C5574964" ], "synonyms": [ "Patterson-Stevenson syndrome", "Patterson-Stevenson-Fontaine syndrome", "split foot deformity-mandibulofacial dysostosis syndrome", "Patterson Stevenson Fontaine syndrome", "split-foot deformity with ectrodactyly and mandibulofacial dysostosis", "split-foot deformity with mandibulofacial dysostosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." }, "child_count": 0, "reference_id": "MONDO:0008465" }, { "id": 9950, "label": "acrofacial dysostosis, Weyers type", "isLeaf": true, "isRoot": false, "parents": [ 16089, 18363, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111571", "GARD:0000497", "ICD9:520.8", "MEDGEN:141594", "MESH:C536695", "OMIM:193530", "Orphanet:952", "SCTID:277807007", "UMLS:C0457013", "icd11.foundation:547338814" ], "synonyms": [ "Weyers acrodental dysostosis", "Weyers acrofacial dysostosis", "curry-Hall syndrome", "acrodental dysostosis of Weyers", "acrofacial dysostosis of Weyers", "curry Hall syndrome", "wad" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner." }, "child_count": 0, "reference_id": "MONDO:0008673" }, { "id": 9985, "label": "acrocraniofacial dysostosis", "isLeaf": true, "isRoot": false, "parents": [ 16089, 18363 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003075", "MEDGEN:349738", "MESH:C536892", "OMIM:201050", "Orphanet:949", "SCTID:720418008", "UMLS:C1860145" ], "synonyms": [ "Kaplan-Plauchu-Fitch syndrome", "acrocraniofacial dysostosis", "Kaplan Plauchu Fitch syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988." }, "child_count": 0, "reference_id": "MONDO:0008712" }, { "id": 9987, "label": "acrofacial dysostosis Rodriguez type", "isLeaf": true, "isRoot": false, "parents": [ 16087, 18363 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060383", "GARD:0000496", "MEDGEN:349730", "MESH:C538183", "OMIM:201170", "Orphanet:1788", "SCTID:720430002", "UMLS:C1860119" ], "synonyms": [ "Rodriguez lethal acrofacial dysostosis syndrome", "acrofacial dysostosis syndrome of Rodriguez", "acrofacial dysostosis, Rodríguez type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth." }, "child_count": 0, "reference_id": "MONDO:0008714" }, { "id": 9988, "label": "acrofrontofacionasal dysostosis", "isLeaf": false, "isRoot": false, "parents": [ 18363 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060226", "GARD:0000484", "MEDGEN:349729", "Orphanet:1784", "SCTID:720408003", "UMLS:C1860118", "icd11.foundation:700995487" ], "synonyms": [ "Richieri-Costa-Colletto syndrome", "Affn dysostosis 1", "acrofrontofacionasal dysostosis 1", "acrofrontofacionasal dysostosis type 1", "acro fronto facio nasal dysostosis", "acrofrontofacionasal dysostosis syndrome", "cleft Lip/palate with frontonasal dysostosis and postaxial polysyndactyly", "polysyndactyly, postaxial, frontonasal dysostosis and cleft lip/palate", "polysyndactyly, postaxial, frontonasal dysostosis, and cleft Lip/palate" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." }, "child_count": 2, "reference_id": "MONDO:0008715" }, { "id": 11106, "label": "postaxial acrofacial dysostosis", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 18363 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111259", "GARD:0008410", "ICD9:759.89", "MEDGEN:120522", "MESH:C537680", "NORD:1448", "OMIM:263750", "Orphanet:246", "SCTID:66038001", "UMLS:C0265257", "icd11.foundation:70602060" ], "synonyms": [ "Miller Syndrome", "Miller syndrome", "POADS", "postaxial acrodysostosis", "postaxial acrofacial dysostosis", "GWAFD", "Genee-Wiedemann acrofacial dysostosis", "Genee-Wiedemann syndrome", "POADS syndrome", "Wildervanck-Smith syndrome", "postaxial acrofacial dysostosis (POADS) syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." }, "child_count": 0, "reference_id": "MONDO:0009903" }, { "id": 12276, "label": "acrofacial dysostosis, Palagonia type", "isLeaf": true, "isRoot": false, "parents": [ 18363 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060385", "GARD:0000499", "MEDGEN:355645", "MESH:C538185", "OMIM:601829", "Orphanet:1787", "SCTID:720429007", "UMLS:C1866168", "icd11.foundation:656294814" ], "synonyms": [ "Palagonia type of acrofacial dysostosis", "acrofacial dysostosis, Palagonia type", "AFD- Palagonia type", "PAFD", "Palagonia form of AFD", "acrofacial dysostosis Palagonia type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997." }, "child_count": 0, "reference_id": "MONDO:0011154" }, { "id": 12469, "label": "acromelic frontonasal dysostosis", "isLeaf": true, "isRoot": false, "parents": [ 17114, 18363 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060342", "GARD:0005539", "MEDGEN:350933", "MESH:C566345", "OMIM:603671", "Orphanet:1827", "SCTID:715427008", "UMLS:C1863616" ], "synonyms": [ "AFND", "Toriello syndrome", "acromelic frontonasal dysostosis", "acromelic frontonasal dysplasia", "frontonasal dysplasia acromelic" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism." }, "child_count": 0, "reference_id": "MONDO:0011359" }, { "id": 13564, "label": "mandibulofacial dysostosis-microcephaly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 16087, 18363 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080196", "GARD:0010056", "MEDGEN:355264", "MESH:C537405", "OMIM:610536", "Orphanet:79113", "SCTID:711543008", "UMLS:C1864652" ], "synonyms": [ "MFDM syndrome", "mandibulofacial dysostosis with microcephaly", "mandibulofacial dysostosis, Guion-Almeida type", "mandibulofacial dysostosis-microcephaly syndrome", "Growth and intellectual disability, mandibulofacial dysostosis, microcephaly, and cleft palate", "Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate", "Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate", "Growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome", "MFDGA", "MFDM" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0012516" }, { "id": 15647, "label": "acrofacial dysostosis Cincinnati type", "isLeaf": true, "isRoot": false, "parents": [ 18363 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060353", "GARD:0016117", "MEDGEN:903483", "OMIM:616462", "UMLS:C4225317" ], "synonyms": [ "POLR1A acrofacial dysostosis", "acrofacial dysostosis caused by mutation in POLR1A", "AFDCIN", "acrofacial dysostosis, Cincinnati type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene." }, "child_count": 0, "reference_id": "MONDO:0014651" }, { "id": 18899, "label": "acrofacial dysostosis, Kennedy-Teebi type", "isLeaf": true, "isRoot": false, "parents": [ 18363 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018859", "MEDGEN:929763", "Orphanet:64542", "SCTID:720427009", "UMLS:C4304094" ], "synonyms": [ "Kennedy-Teebi syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype." }, "child_count": 0, "reference_id": "MONDO:0018980" }, { "id": 20749, "label": "acrofacial dysostosis Preis type", "isLeaf": true, "isRoot": false, "parents": [ 18363 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Acrofacial dysostosis with pre-and postaxial involvement; a postaxial defect of the right, and a preaxial defect of the left hand. This is an n-of-1 use case where only one patient or family has been described with this disorder." }, "child_count": 0, "reference_id": "MONDO:0021764" }, { "id": 25067, "label": "SF3B4-related acrofacial dysostosis", "isLeaf": false, "isRoot": false, "parents": [ 18363 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026574" ], "synonyms": [ "SF3B4-related acrofacial dysostosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A congenital malformation syndrome characterized by mandibulofacial dysostosis and anterior upper-limb defects, though occasionally, lower-limb defects have also been reported. Intrafamilial variability has been observed along with phenotype variability and severity including shoulder and pelvic girdle hypoplasia, fibular hypoplasia and eleven ribs." }, "child_count": 1, "reference_id": "MONDO:0800483" } ], "roots": [ { "id": 5714, "label": "hereditary disease" }, { "id": 18362, "label": "dysostosis" }, { "id": 18956, "label": "congenital limb malformation" } ] }