{"Name":"KBG syndrome","DiseaseID__c":"GARD:0000082","id":82,"encodedName":"kbg-syndrome","IsDeleted":false,"Disease_Name_Full__c":"KBG syndrome","Xref_IDs__c":"711156009; C0220687; C537015; DOID:14780; MEDGEN:66317; MONDO:0007846; NBK487886; OMIM:148050; ORPHA:2332","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0007846","Disease_Description__c":"A rare congenital malformation syndrome characterized by a typical facial dysmorphism, macrodontia of the permanent upper central incisors, short stature, skeletal anomalies, developmental delay and behavioral abnormalities.","GARD_Name__c":"KBG syndrome","GARD_Synonym__c":"kbgs; short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome; short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome; short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome","Curated_Disease_Description_Source__c":"GARD:0000082","Curated_Disease_Description__c":"KBG syndrome is a rare disorder that affects several body systems. 'KBG' represents the surname initials of the first families diagnosed with the disorder. Common signs and symptoms in individuals with this condition include unusual facial features, skeletal abnormalities, and intellectual disability. A characteristic feature of KBG syndrome is unusually large upper front teeth (macrodontia). Other distinctive facial features include a wide, short skull (brachycephaly), a triangular face shape, widely spaced eyes (hypertelorism), wide eyebrows that may grow together in the middle (synophrys), a prominent nasal bridge, a long space between the nose and upper lip (long philtrum), and a thin upper lip. A common skeletal abnormality in people with KBG syndrome is slowed mineralization of bones (delayed bone age); for example, an affected 3-year-old child may have bones more typical of a child of 2. In addition, affected individuals can have abnormalities of the bones of the spine (vertebrae) and ribs. They can also have abnormalities of the bones of the hands or feet, including unusually short or curved fifth (pinky) fingers (brachydactyly or clinodactyly, respectively) and flat feet (pes planus). Most affected individuals are shorter than average from birth. Development of mental and movement abilities is also delayed in KBG syndrome. Most affected individuals learn to speak and walk later than normal and have mild to moderate intellectual disability. Most people with this condition have neurodevelopmental disorders, such as hyperactivity; anxiety; or autism spectrum disorder, which is characterized by impaired communication and social interactions. Less common features of KBG syndrome include hearing loss, seizures, and heart defects.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:2332","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007846","ORPHANET_ID__c":"ORPHA:2332","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome kbg","Spanish_Description_Source__c":"ORPHA:2332","Spanish_Description__c":"Es un síndrome malformativo congénito, poco frecuente caracterizado por dismorfia facial típica, macrodoncia de los incisivos centrales superiores permanentes, talla baja, anomalías esqueléticas, retraso psicomotor y alteraciones de la conducta.","Spanish_Disease_Name__c":"síndrome kbg","Spanish_GARD_Synonym__c":"síndrome de talla baja-anomalías faciales y esqueléticas-discapacidad intelectual-macrodoncia; trastorno asociado a ankrd11","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":"KBG syndrome is a rare disorder that affects several body systems. 'KBG' represents the surname initials of the first families diagnosed with the disorder. Common signs and symptoms in individuals with this condition include unusual facial features, skeletal abnormalities, and intellectual disability. A characteristic feature of KBG syndrome is unusually large upper front teeth (macrodontia). Other distinctive facial features include a wide, short skull (brachycephaly), a triangular face shape, widely spaced eyes (hypertelorism), wide eyebrows that may grow together in the middle (synophrys), a prominent nasal bridge, a long space between the nose and upper lip (long philtrum), and a thin upper lip. A common skeletal abnormality in people with KBG syndrome is slowed mineralization of bones (delayed bone age); for example, an affected 3-year-old child may have bones more typical of a child of 2. In addition, affected individuals can have abnormalities of the bones of the spine (vertebrae) and ribs. They can also have abnormalities of the bones of the hands or feet, including unusually short or curved fifth (pinky) fingers (brachydactyly or clinodactyly, respectively) and flat feet (pes planus). Most affected individuals are shorter than average from birth. Development of mental and movement abilities is also delayed in KBG syndrome. Most affected individuals learn to speak and walk later than normal and have mild to moderate intellectual disability. Most people with this condition have neurodevelopmental disorders, such as hyperactivity; anxiety; or autism spectrum disorder, which is characterized by impaired communication and social interactions. Less common features of KBG syndrome include hearing loss, seizures, and heart defects.","Curated_Disease_Description_Source__c":"GARD:0000082","GARD_Synonym__c":"kbgs; short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome; short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome; short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome","Name":"KBG syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Simons Searchlight","Website__c":"https://www.simonssearchlight.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.org/"},{"Account_Name__c":"Children's Craniofacial Association","Website__c":"https://ccakids.org/"},{"Account_Name__c":"World Craniofacial Foundation","Website__c":"https://www.worldcf.org/"},{"Account_Name__c":"KBG Foundation","Website__c":"https://kbgfoundation.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":"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":"Odontology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"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:2332"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2332"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:2332"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2332"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0220687"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000082","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK487886","Source__c":"Gene Review","Xref__c":"NBK487886"},{"URL__c":"https://www.orpha.net/en/disease/detail/2332","Source__c":"C0220687; MONDO:0007846; ORPHA:2332","Xref__c":"ORPHA:2332"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=66317","Source__c":"C0220687","Xref__c":"MEDGEN:66317"},{"URL__c":"https://www.omim.org/entry/148050","Source__c":"C0220687; MONDO:0007846; ORPHA:2332","Xref__c":"OMIM:148050"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537015","Source__c":"MONDO:0007846","Xref__c":"C537015"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=711156009","Source__c":"C0220687; MONDO:0007846","Xref__c":"711156009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0220687","Source__c":"C0220687","Xref__c":"C0220687"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14780","Source__c":"MONDO:0007846","Xref__c":"DOID:14780"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007846","Source__c":"GARD:0000082","Xref__c":"MONDO:0007846"},{"URL__c":"https://medlineplus.gov/genetics/condition/kbg-syndrome","Source__c":"GARD:0000082","Xref__c":"https://medlineplus.gov/genetics/condition/kbg-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ANKRD11","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ankrd11","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Defect or defects of the morphogenesis of the left heart identifiable at birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045017","HPO_Name__c":"Congenital malformation of the left heart","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","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:2332","HPO_Frequency__c":"Frequent (30-79%)","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:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Over curvature of the thoracic region, leading to a round back or if sever to a hump.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002942","HPO_Synonym__c":"Accentuated thoracic kyphosis; Exaggerated thoracic kyphosis","HPO_Name__c":"Thoracic kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The absence of six or more teeth from the normal series by a failure to develop.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000677","HPO_Synonym__c":"Failure of development of more than six teeth; Partial anodontia","HPO_Name__c":"Oligodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000891","HPO_Name__c":"Cervical ribs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A bilateral type of conductive hearing impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008513","HPO_Synonym__c":"Bilateral conductive deafness; Bilateral conductive hearing loss","HPO_Name__c":"Bilateral conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The facial appearance is more circular than usual as viewed from the front.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000311","HPO_Synonym__c":"Circular face; Round face; Round facial appearance; Round facial shape; Round facies","HPO_Name__c":"Round face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000506","HPO_Synonym__c":"Corners of eye widely separated; Dystopia canthorum; Increased distance between medial canthi; Increased intercanthal distance","HPO_Name__c":"Telecanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004474","HPO_Synonym__c":"Front fontanelle stays open; Persistent, open anterior fontanel","HPO_Name__c":"Persistent open anterior fontanelle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002353","HPO_Synonym__c":"Abnormal EEG; Abnormal electroencephalogram; EEG abnormalities; Electroencephalogram abnormal; Electroencephalogram abnormalities","HPO_Name__c":"EEG abnormality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002750","HPO_Synonym__c":"Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation","HPO_Name__c":"Delayed skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000400","HPO_Synonym__c":"Large ears; Large pinnae","HPO_Name__c":"Macrotia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000954","HPO_Synonym__c":"Simian crease; Simian creases; Simian line; Single flexion crease; Single palmar crease; Single palmar creases; Single transverse palmar creases; Transverse palmar crease","HPO_Name__c":"Single transverse palmar crease","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Meeting of the medial eyebrows in the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000664","HPO_Synonym__c":"Monobrow; Synophris; Unibrow","HPO_Name__c":"Synophrys","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012725","HPO_Synonym__c":"Cutaneous syndactyly of digits; Syndactyly, cutaneous","HPO_Name__c":"Cutaneous syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the form, structure, or size of the skeletal system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011842","HPO_Synonym__c":"Abnormality of skeletal morphology; Abnormally shaped skeletal","HPO_Name__c":"Abnormal skeletal morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001572","HPO_Synonym__c":"Increased size of tooth; Increased width of tooth; Large tooth; Megalodontia","HPO_Name__c":"Macrodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the distribution of hair growth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010720","HPO_Synonym__c":"Abnormal distribution of hair; Abnormal hair pattern","HPO_Name__c":"Abnormal hair pattern","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Thinned, deficient, or excessively arched ala nasi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000430","HPO_Synonym__c":"Ala nasi, underdeveloped; Alar cartilage hypoplasia; Decreased size of nasal alae; Hypoplastic alae nasae; Hypoplastic alae nasi; Hypoplastic alar cartilage; Hypoplastic alar nasae; Hypoplastic nares; Hypoplastic nasal alae; Hypoplastic nasal wings; Hypoplastic nostrils; Nasal cartilage hypoplasia; Small nasal alae; Thin hypoplastic alae nasi; Underdeveloped tissue around nostril","HPO_Name__c":"Underdeveloped nasal alae","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000343","HPO_Synonym__c":"Elongated philtrum; Increased height of philtrum; Increased length of philtrum; Increased vertical dimension of philtrum; Vertical hyperplasia of philtrum","HPO_Name__c":"Long philtrum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000637","HPO_Synonym__c":"Broad opening between the eyelids; Broad palpebral fissure; Long opening between the eyelids; Long palpebral fissures; Wide opening between the eyelids; Wide palpebral fissure; Wide palpebral fissures","HPO_Name__c":"Long palpebral fissure","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Anterior positioning of the nasal root in comparison to the usual positioning for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000426","HPO_Synonym__c":"Elevated nasal bridge; High nasal bridge; Prominent bridge of nose; Prominent nasal bridge; Prominent nasal root; Protruding bridge of nose; Protruding nasal bridge","HPO_Name__c":"Prominent nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000463","HPO_Synonym__c":"Anteverted nose; Anteverted nostrils; Nasal tip, upturned; Nostrils anteverted; Upturned nares; Upturned nasal tip; Upturned nose; Upturned nostrils","HPO_Name__c":"Anteverted nares","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased distance between the maxillary central permanent incisor tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001566","HPO_Synonym__c":"Diastasis of the central incisors; Gap between upper front teeth; Separated superior central incisors; Wide gap between upper central incisors; Wide upper central incisors; Widely spaced upper incisors","HPO_Name__c":"Widely-spaced maxillary central incisors","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000219","HPO_Synonym__c":"Decreased height of upper lip vermilion; Decreased volume of upper lip; Decreased volume of upper lip vermilion; Thin upper lip; Thin vermilion border of upper lip","HPO_Name__c":"Thin upper lip vermilion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000465","HPO_Synonym__c":"Neck webbing; Pterygium colli; Webbed neck","HPO_Name__c":"Webbed neck","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","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:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diminished length of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000470","HPO_Synonym__c":"Decreased length of neck; Short neck","HPO_Name__c":"Short neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","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:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased density/number and/or increased diameter of eyebrow hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000574","HPO_Synonym__c":"Bushy eyebrows; Dense eyebrow; Heavy eyebrows; Hypertrichosis of the eyebrow; Prominent eyebrows; Thick eyebrow; Thick eyebrows","HPO_Name__c":"Thick eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040019","HPO_Name__c":"Finger clinodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A developmental defect leading to the union of two adjacent vertebrae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002948","HPO_Synonym__c":"Congenital spinal fusion; Congenitally fused vertebrae; Fusion of vertebral bodies; Vertebral body fusion","HPO_Name__c":"Vertebral fusion","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Orthopedics","Odontology","Neurodevelopmental disabilities","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["kbgs"," short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome"," short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome"," short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome"],"spanishId":12064,"spanishName":"sindrome-de-kbg"}