{"Name":"Blepharophimosis - intellectual disability syndrome, MKB type","DiseaseID__c":"GARD:0017341","id":17341,"encodedName":"blepharophimosis-intellectual-disability-syndrome-mkb-type","IsDeleted":false,"Disease_Name_Full__c":"Blepharophimosis - intellectual disability syndrome, MKB type","Xref_IDs__c":"699297004; C206528; C3698541; MEDGEN:785805; MONDO:0010477; OMIM:300895; ORPHA:293707","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010477","Disease_Description__c":"The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.","GARD_Name__c":"Blepharophimosis - intellectual disability syndrome, MKB type","GARD_Synonym__c":"blepharophimosis-intellectual disability syndrome maat-kievit-brunner type; blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type; blepharophimosis-intellectual disability syndrome, mkb type; bmrs, maat-kievit-brunner type; bmrs, mkb type; ohdo syndrome, maat-kievit-brunner type; ohdo syndrome, x-linked; ohdo syndrome, x-linked, x-linked recessive; x-linked ohdo syndrome","Curated_Disease_Description_Source__c":"ORPHA:293707","Curated_Disease_Description__c":"The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males. The intellectual disability associated with this condition varies from mild to severe, and the development of motor skills (such as sitting, standing, and walking) is delayed. Some affected individuals also have behavioral problems. Distinctive facial features often seen in this condition include a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), prominent cheeks, a broad nasal bridge, a nose with a rounded tip, a large space between the nose and upper lip (a long philtrum), and a narrow mouth. Some affected individuals also have widely set eyes (hypertelorism), an unusually small chin (micrognathia), and small and low-set ears. As people with the condition get older, these facial characteristics become more pronounced and the face becomes more triangular. Other possible signs of this condition include dental problems, weak muscle tone (hypotonia), and hearing loss.","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:293707","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010477","ORPHANET_ID__c":"ORPHA:293707","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de blefarofimosis-discapacidad intelectual tipo mkb","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de blefarofimosis-discapacidad intelectual tipo mkb","Spanish_GARD_Synonym__c":"bmrs tipo maat-kievit-brunner; bmrs tipo mkb; síndrome de blefarofimosis-discapacidad intelectual tipo maat-kievit-brunner; síndrome de ohdo ligado al cromosoma x","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":"The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males. The intellectual disability associated with this condition varies from mild to severe, and the development of motor skills (such as sitting, standing, and walking) is delayed. Some affected individuals also have behavioral problems. Distinctive facial features often seen in this condition include a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), prominent cheeks, a broad nasal bridge, a nose with a rounded tip, a large space between the nose and upper lip (a long philtrum), and a narrow mouth. Some affected individuals also have widely set eyes (hypertelorism), an unusually small chin (micrognathia), and small and low-set ears. As people with the condition get older, these facial characteristics become more pronounced and the face becomes more triangular. Other possible signs of this condition include dental problems, weak muscle tone (hypotonia), and hearing loss.","Curated_Disease_Description_Source__c":"ORPHA:293707","GARD_Synonym__c":"blepharophimosis-intellectual disability syndrome maat-kievit-brunner type; blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type; blepharophimosis-intellectual disability syndrome, mkb type; bmrs, maat-kievit-brunner type; bmrs, mkb type; ohdo syndrome, maat-kievit-brunner type; ohdo syndrome, x-linked; ohdo syndrome, x-linked, x-linked recessive; x-linked ohdo syndrome","Name":"Blepharophimosis - intellectual disability syndrome, MKB type","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Simons Searchlight","Website__c":"https://www.simonssearchlight.org/"}],"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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:293707"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:293707"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1676","Source__c":"Gene Review","Xref__c":"NBK1676"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=699297004","Source__c":"C3698541; MONDO:0010477","Xref__c":"699297004"},{"URL__c":"https://www.orpha.net/en/disease/detail/293707","Source__c":"C3698541; MONDO:0010477; ORPHA:293707","Xref__c":"ORPHA:293707"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=785805","Source__c":"C3698541","Xref__c":"MEDGEN:785805"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3698541","Source__c":"C3698541","Xref__c":"C3698541"},{"URL__c":"https://www.omim.org/entry/300895","Source__c":"C3698541; MONDO:0010477; ORPHA:293707","Xref__c":"OMIM:300895"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C206528","Source__c":"C3698541","Xref__c":"C206528"},{"URL__c":"https://medlineplus.gov/genetics/condition/ohdo-syndrome-maat-kievit-brunner-type","Source__c":"GARD:0017341","Xref__c":"https://medlineplus.gov/genetics/condition/ohdo-syndrome-maat-kievit-brunner-type"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010477","Source__c":"GARD:0017341","Xref__c":"MONDO:0010477"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MED12","GHR_URL__c":"https://medlineplus.gov/genetics/gene/med12","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:293707","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000581","HPO_Synonym__c":"Decreased width of palpebral fissure; Narrow opening between the eyelids","HPO_Name__c":"Blepharophimosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293707","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293707","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000448","HPO_Synonym__c":"Big nose; Disproportionately large nose; Increased nasal size; Increased size of nose; Large nose; Prominent nose; Pronounced nose","HPO_Name__c":"Prominent nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293707","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased volume and globular shape of the anteroinferior aspect of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000414","HPO_Synonym__c":"Bulbous nose","HPO_Name__c":"Bulbous nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293707","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000280","HPO_Synonym__c":"Coarse face; Coarse facial appearance; Coarse facial features; Coarse facies","HPO_Name__c":"Coarse facial features","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293707","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000325","HPO_Synonym__c":"Face with broad temples and narrow chin; Inverted triangular face; Triangular face; Triangular facial shape; Triangular facies","HPO_Name__c":"Triangular face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293707","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Floppiness/hypotonia is defined as reduced resistance to passive movement of joints. Physical examination of floppy/hypotonic infants shows head lag, lack of shoulder and elbow muscle contraction on traction response, inability to tighten the shoulder girdle muscles (or slipping through) when held under the axillae, scarf sign (when the arm is pulled to the opposite side, the arm wraps around the neck with the elbow crossing midline), hyperdorsiflexion of the feet, easy apposition of the thumb against the forearm, feet touching the cheek with ease and without discomfort, frog leg position, and inverted U sign on ventral suspension (head, arms, and legs hanging down without elbow or knee flexion and the trunk rounded in a dome shape).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008947","HPO_Synonym__c":"Decreased muscle tone in infant; Hypotonia early; Hypotonia in infancy; Hypotonia, early; Infantile hypotonia; Infantile muscular hypotonia","HPO_Name__c":"Floppy infant","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293707","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increase in bulk of the ala nasi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009928","HPO_Synonym__c":"Ala nasi, thick; Thickening of the alae nasi","HPO_Name__c":"Thick nasal alae","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["blepharophimosis-intellectual disability syndrome maat-kievit-brunner type"," blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type"," blepharophimosis-intellectual disability syndrome, mkb type"," bmrs, maat-kievit-brunner type"," bmrs, mkb type"," ohdo syndrome, maat-kievit-brunner type"," ohdo syndrome, x-linked"," ohdo syndrome, x-linked, x-linked recessive"," x-linked ohdo syndrome"]}