{"Name":"Acrofrontofacionasal dysostosis","DiseaseID__c":"GARD:0000484","id":484,"encodedName":"acrofrontofacionasal-dysostosis","IsDeleted":false,"Disease_Name_Full__c":"Acrofrontofacionasal dysostosis","Xref_IDs__c":"720408003; C1860118; DOID:0060226; MEDGEN:349729; MONDO:0008715; ORPHA:1784","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":1,"Description_Source__c":"MONDO:0008715","Disease_Description__c":"A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.","GARD_Name__c":"Acrofrontofacionasal dysostosis","GARD_Synonym__c":"acro-fronto-facio-nasal dysostosis; acrofrontofacionasal dysostosis syndrome; affn dysostosis; richieri costa colletto syndrome; richieri-costa-colletto syndrome","Curated_Disease_Description_Source__c":"MONDO:0008715","Curated_Disease_Description__c":"A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1784","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008715","ORPHANET_ID__c":"ORPHA:1784","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Disostosis acro-fronto-facio-nasal","Spanish_Description_Source__c":"ORPHA:1784","Spanish_Description__c":"Es un síndrome de malformación congénita caracterizado por la asociación de anomalías faciales y esqueléticas con una discapacidad intelectual profunda y anomalías genitourinarias ocasionales.","Spanish_Disease_Name__c":"disostosis acro-fronto-facio-nasal","Spanish_GARD_Synonym__c":"síndrome de richieri-costa-colletto","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 congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.","Curated_Disease_Description_Source__c":"MONDO:0008715","GARD_Synonym__c":"acro-fronto-facio-nasal dysostosis; acrofrontofacionasal dysostosis syndrome; affn dysostosis; richieri costa colletto syndrome; richieri-costa-colletto syndrome","Name":"Acrofrontofacionasal dysostosis","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:1784"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=349729","Source__c":"C1860118","Xref__c":"MEDGEN:349729"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1860118","Source__c":"C1860118","Xref__c":"C1860118"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060226","Source__c":"MONDO:0008715","Xref__c":"DOID:0060226"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720408003","Source__c":"C1860118; MONDO:0008715","Xref__c":"720408003"},{"URL__c":"https://www.orpha.net/en/disease/detail/1784","Source__c":"C1860118; MONDO:0008715; ORPHA:1784","Xref__c":"ORPHA:1784"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008715","Source__c":"GARD:0000484","Xref__c":"MONDO:0008715"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1784","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of any abnormality of the genitourinary system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000119","HPO_Synonym__c":"Abnormality of the GU system; Genitourinary abnormality; Genitourinary tract anomalies; Genitourinary tract malformation; Urogenital abnormalities; Urogenital anomalies","HPO_Name__c":"Abnormality of the genitourinary system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1784","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1784","HPO_Frequency__c":"Very frequent (80-99%)","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:1784","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal indentation of the skin in the region of the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004132","HPO_Synonym__c":"Dimple on nasal tip; Dimpled tip of nose","HPO_Name__c":"Dimple on nasal tip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1784","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:1784","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:1784","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011800","HPO_Synonym__c":"Decreased size of midface; Flat midface; Hypoplasia of midface; Midface deficiency; Midface hypoplasia; Midface retrusion; Midface, flat; Retrusive midface; Underdevelopment of midface","HPO_Name__c":"Midface retrusion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1784","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010864","HPO_Synonym__c":"Early and severe mental retardation; Intellectual disability, severe; Mental retardation, severe; Severe mental retardation","HPO_Name__c":"Severe intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1784","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Clefting (gap or groove) of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100335","HPO_Synonym__c":"Non-midline cleft of the upper lip; Paramedian cleft of the upper lip","HPO_Name__c":"Non-midline cleft of the upper lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1784","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atrophy of the cortex of the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002120","HPO_Synonym__c":"Cerebral cortex atrophy; Cortical atrophy; Decrease in size of the outer layer of the brain due to loss of brain cells","HPO_Name__c":"Cerebral cortical atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1784","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000248","HPO_Synonym__c":"Short and broad skull","HPO_Name__c":"Brachycephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1784","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000218","HPO_Synonym__c":"Elevated palate; High arched palate; High palate; High, arched palate; High-arched palate; Increased palatal height; Palate high-arched; Palate, high-arched","HPO_Name__c":"High palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1784","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The palpebral fissure inclination is more than two standard deviations below the mean.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000494","HPO_Synonym__c":"Antimongoloid eye slant; Antimongoloid slant of palpebral fissures; Antimongoloid slanted palpebral fissures; Down slanting palpebral fissures; Down-slanted palpebral fissures; Down-slanting palpebral fissure; Down-slanting palpebral fissures; Downslanting palpebral fissure; Downslanting palpebral fissures; Downward slanted palpebral fissures; Downward slanting of the opening between the eyelids; Downward slanting palpebral fissures; Downward-slanting palpebral fissures; Palpebral fissures down-slanted","HPO_Name__c":"Downslanted palpebral fissures","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1784","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005930","HPO_Synonym__c":"Abnormal shape of end part of bone; Abnormality of epiphysis morphology; Abnormality of the epiphyses; Anomaly of the epiphyses; Epiphyseal abnormality","HPO_Name__c":"Abnormal epiphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1784","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000337","HPO_Synonym__c":"Bitemporal widening; Broad forehead; Increased bitemporal dimension; Increased bitemporal width; Increased width of the forehead; Intertemporal widening; Wide forehead","HPO_Name__c":"Broad forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1784","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased thumb width without increased dorso-ventral dimension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011304","HPO_Synonym__c":"Broad phalanges of the thumb; Broad thumb; Broad thumbs; Wide/broad thumb; Wide/broad thumb phalanges","HPO_Name__c":"Broad thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1784","HPO_Frequency__c":"Very frequent (80-99%)","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:1784","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A short discontinuity of the margin of the lower or upper eyelid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000625","HPO_Synonym__c":"Cleft eyelid; Full thickness defect of the eyelid; Notched eyelid","HPO_Name__c":"Eyelid coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1784","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1784","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000047","HPO_Synonym__c":"Hypospadia","HPO_Name__c":"Hypospadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1784","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001053","HPO_Synonym__c":"Patchy loss of skin color","HPO_Name__c":"Hypopigmented skin patches","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1784","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1784","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Midline indentation or cleft of the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000048","HPO_Synonym__c":"Cleft of scrotum; Scrotal cleft","HPO_Name__c":"Bifid scrotum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1784","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of whitish spots in a ring-like arrangement at the periphery of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001088","HPO_Synonym__c":"Iris brushfield spots","HPO_Name__c":"Brushfield spots","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1784","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increase in width of the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000455","HPO_Synonym__c":"Broad nasal tip; Broad tip of nose; Broad, upturned nose; Increased breadth of nasal tip; Increased breadth of tip of nose; Increased width of nasal tip; Increased width of tip of nose; Nasal tip, broad; Nasal tip, wide; Wide tip of nose","HPO_Name__c":"Broad nasal tip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1784","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000232","HPO_Synonym__c":"Drooping lower lip; Eclabium of lower lip; Everted lower lip; Everted prominent lower lip; Outward turned lower lip","HPO_Name__c":"Everted lower lip vermilion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1784","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the eyebrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100840","HPO_Synonym__c":"Absence of eyebrow; Agenesis of eyebrow; Hypotrophic eyebrow; Lack of eyebrow; Missing eyebrow","HPO_Name__c":"Aplasia/Hypoplasia of the eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1784","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Aplasia of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001798","HPO_Synonym__c":"Absent nails; Aplastic nails","HPO_Name__c":"Anonychia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1784","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009882","HPO_Synonym__c":"Brachytelophalangy; Distal phalangeal hypoplasia; Hypoplasia of the distal phalanges; Hypoplasia of the distal phalanges of the hand; Hypoplastic distal phalanges; Hypoplastic terminal phalanges; Short distal phalanges; Short outermost finger bone; Terminal phalangeal hypoplasia of hand","HPO_Name__c":"Short distal phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["acro-fronto-facio-nasal dysostosis"," acrofrontofacionasal dysostosis syndrome"," affn dysostosis"," richieri costa colletto syndrome"," richieri-costa-colletto syndrome"]}