{"Name":"Parietal foramina","DiseaseID__c":"GARD:0016662","id":16662,"encodedName":"parietal-foramina","IsDeleted":false,"Disease_Name_Full__c":"Parietal foramina","Xref_IDs__c":"718099006; C566826; CN002451; DOID:0060285; HP:0002697; MEDGEN:505331; MONDO:0018953; OMIMPS:168500; ORPHA:60015","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018953","Disease_Description__c":"Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.","GARD_Name__c":"Parietal foramina","GARD_Synonym__c":"caitlin marks; catlin marks; enlarged parietal foramina; fenestrae parietales symmetricae; foramina parietalia permagna; hereditary cranium bifidum; holes in parietal bones; openings in parietal bones; persistent foramina of the parietal bones; symmetric parietal foramina; symmetrical, oval defects in the parietal bone; symmetrical, oval parietal bone defects","Curated_Disease_Description_Source__c":"MONDO:0018953","Curated_Disease_Description__c":"Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the parietal bones, which are the two bones that form the top and sides of the skull. This condition is due to incomplete bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, ranging in size from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but typically they close before the baby is born, usually by the fifth month of pregnancy. However, in people with this condition, the parietal foramina remain open throughout life. The enlarged parietal foramina are soft to the touch due to the lack of bone at those areas of the skull. People with enlarged parietal foramina usually do not have any related health problems; however, scalp defects, seizures, and structural brain abnormalities have been noted in a small percentage of affected people. Pressure applied to the openings can lead to severe headaches, and individuals with this condition have an increased risk of brain damage or skull fractures if any trauma is experienced in the area of the openings. There are two forms of enlarged parietal foramina, called type 1 and type 2, which differ in their genetic cause.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:60015","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018953","ORPHANET_ID__c":"ORPHA:60015","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Foramina parietal ampliada","Spanish_Description_Source__c":"ORPHA:60015","Spanish_Description__c":"La foramina parietal agrandada (FPA), también denominada simplemente foramina parietal, es un trastorno del desarrollo caracterizado por defectos de tamaño variable en la osificación intramembranosa de los huesos parietales. Puede ser asintomática, sintomática (cefaleas, náuseas, vómitos, discapacidad intelectual) o estar asociada a otras patologías.","Spanish_Disease_Name__c":"foramina parietal ampliada","Spanish_GARD_Synonym__c":"cráneo bífido hereditario; fenestrae parietales symmetricae; foramina parietal simétrica; foramina parietalia permagna; marcas de catlin","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":"Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the parietal bones, which are the two bones that form the top and sides of the skull. This condition is due to incomplete bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, ranging in size from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but typically they close before the baby is born, usually by the fifth month of pregnancy. However, in people with this condition, the parietal foramina remain open throughout life. The enlarged parietal foramina are soft to the touch due to the lack of bone at those areas of the skull. People with enlarged parietal foramina usually do not have any related health problems; however, scalp defects, seizures, and structural brain abnormalities have been noted in a small percentage of affected people. Pressure applied to the openings can lead to severe headaches, and individuals with this condition have an increased risk of brain damage or skull fractures if any trauma is experienced in the area of the openings. There are two forms of enlarged parietal foramina, called type 1 and type 2, which differ in their genetic cause.","Curated_Disease_Description_Source__c":"MONDO:0018953","GARD_Synonym__c":"caitlin marks; catlin marks; enlarged parietal foramina; fenestrae parietales symmetricae; foramina parietalia permagna; hereditary cranium bifidum; holes in parietal bones; openings in parietal bones; persistent foramina of the parietal bones; symmetric parietal foramina; symmetrical, oval defects in the parietal bone; symmetrical, oval parietal bone defects","Name":"Parietal foramina","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Craniofacial Association","Website__c":"https://ccakids.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":"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:60015"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:60015"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1128","Source__c":"Gene Review","Xref__c":"NBK1128"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718099006","Source__c":"MONDO:0018953","Xref__c":"718099006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566826","Source__c":"MONDO:0018953","Xref__c":"C566826"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS168500","Source__c":"MONDO:0018953","Xref__c":"OMIMPS:168500"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060285","Source__c":"MONDO:0018953","Xref__c":"DOID:0060285"},{"URL__c":"https://www.orpha.net/en/disease/detail/60015","Source__c":"CN002451; MONDO:0018953","Xref__c":"ORPHA:60015"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN002451","Source__c":"CN002451","Xref__c":"CN002451"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=505331","Source__c":"CN002451","Xref__c":"MEDGEN:505331"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018953","Source__c":"GARD:0016662","Xref__c":"MONDO:0018953"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0002697","Source__c":"CN002451","Xref__c":"HP:0002697"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MSX2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/msx2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ALX4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/alx4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:60015","HPO_Frequency__c":"Uncommon (<1-4%)","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:60015","HPO_Frequency__c":"Uncommon (<1-4%)","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:60015","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pain or discomfort of the scalp elicited by palpation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100809","HPO_Synonym__c":"Scalp hypersensitivity; Scalp tenderness","HPO_Name__c":"Scalp tenderness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60015","HPO_Frequency__c":"Uncommon (<1-4%)","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:60015","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001363","HPO_Synonym__c":"Cranial suture synostosis; Craniosyostosis; Early fusion of cranial sutures; Premature closure of cranial sutures; Premature suture closure","HPO_Name__c":"Craniosynostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60015","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002697","HPO_Synonym__c":"Persistent foramina of the parietal bones; Symmetrical, oval defects in the parietal bone; Symmetrical, oval parietal bone defects","HPO_Name__c":"Parietal foramina","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60015","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002475","HPO_Synonym__c":"Meningomyelocele; Spina bifida cystica","HPO_Name__c":"Myelomeningocele","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60015","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60015","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000932","HPO_Synonym__c":"Abnormality of the posterior cranial fossa; Abnormality of the posterior fossa; Posterior fossa anomaly","HPO_Name__c":"Abnormal posterior cranial fossa morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60015","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An anomaly of cerebral veins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012480","HPO_Synonym__c":"Abnormality of cerebral veins","HPO_Name__c":"Abnormal cerebral vein morphology","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60015","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002762","HPO_Name__c":"Multiple exostoses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60015","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012721","HPO_Synonym__c":"Venous malformations","HPO_Name__c":"Venous malformation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60015","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002085","HPO_Synonym__c":"Brain tissue sticks out through back of skull; Occipital meningoencephalocele; Posterior encephalocele","HPO_Name__c":"Occipital encephalocele","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60015","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in the congenital absence of skin on the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007385","HPO_Synonym__c":"Scalp aplasia cutis congenita","HPO_Name__c":"Aplasia cutis congenita of scalp","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60015","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A gap in the lip or lips.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410030","HPO_Synonym__c":"Cleft lip; Cleft of the lip","HPO_Name__c":"Cleft lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60015","HPO_Frequency__c":"Uncommon (<1-4%)","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:60015","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60015","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008497","HPO_Name__c":"Congenital craniofacial dysostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60015","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040197","HPO_Synonym__c":"Cerebral softening","HPO_Name__c":"Encephalomalacia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60015","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Reduced length of the clavicles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000894","HPO_Synonym__c":"Clavicular hypoplasia; Hypoplastic clavicles; Short collarbone; Underdeveloped clavicles","HPO_Name__c":"Short clavicles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["caitlin marks"," catlin marks"," enlarged parietal foramina"," fenestrae parietales symmetricae"," foramina parietalia permagna"," hereditary cranium bifidum"," holes in parietal bones"," openings in parietal bones"," persistent foramina of the parietal bones"," symmetric parietal foramina"," symmetrical, oval defects in the parietal bone"," symmetrical, oval parietal bone defects"]}