{"Name":"Craniofrontonasal syndrome","DiseaseID__c":"GARD:0001578","id":1578,"encodedName":"craniofrontonasal-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Craniofrontonasal syndrome","Xref_IDs__c":"715421009; C0220767; C536456; DOID:14737; MEDGEN:65095; MONDO:0010570; OMIM:304110; ORPHA:1520","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010570","Disease_Description__c":"A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet.","GARD_Name__c":"Craniofrontonasal syndrome","GARD_Synonym__c":"cfnd; cfns; craniofrontonasal dysostosis; craniofrontonasal dysplasia; craniofrontonasal dysplasia, x-linked dominant","Curated_Disease_Description_Source__c":"GARD:0001578","Curated_Disease_Description__c":"Craniofrontonasal syndrome is a rare condition characterized by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face. The condition is named for the areas of the body that are typically affected: the skull (cranio-), face (fronto-), and nose (nasal). In people with craniofrontonasal syndrome, the skull bones along the coronal suture, which is the growth line that goes over the head from ear to ear, closes early. These changes can result in an abnormally shaped head and distinctive facial features. The size and shape of facial structures may differ between the right and left sides of the face (facial asymmetry) in individuals with craniofrontonasal syndrome. Affected individuals may also have wide-set eyes (ocular hypertelorism), eyes that do not point in the same direction (strabismus), involuntary eye movements (nystagmus), a slit (cleft) in the tip of the nose, a wide nasal bridge, an upper lip that points outward (called a tented lip), or a cleft in the upper lip with or without a cleft in roof of the mouth (palate). Some affected individuals have brain abnormalities, such as absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis or dysgenesis of the corpus callosum). However, intelligence is usually unaffected in people with this condition. Females with craniofrontonasal syndrome typically have more severe signs and symptoms than affected males, who often have hypertelorism and rarely, cleft lip. Other common features of craniofrontonasal syndrome include extra folds of skin on the neck (webbed neck), ridged nails, unusual curving of the fingers or toes (clinodactyly), extra fingers (polydactyly) or fingers that are fused together (syndactyly), low-set breasts, a sunken chest (pectus excavatum), a spine that curves to the side (scoliosis), or narrow and sloped shoulders with reduced range of motion. People with this condition may also have eyebrows that grow together in the middle (synophrys), a widow's peak hairline with a low hairline in the back, or wiry hair.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:1520","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010570","ORPHANET_ID__c":"ORPHA:1520","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia craneofrontonasal","Spanish_Description_Source__c":"ORPHA:1520","Spanish_Description__c":"Es un síndrome malformativo poco frecuente ligado al cromosoma X caracterizado por anomalías craneofaciales como sinostosis uni- o bicoronal, hipertelorismo y nariz bífida, uñas estriadas o partidas, cabello encrespado, y anomalías de la cintura escapular, de las manos y de los pies.","Spanish_Disease_Name__c":"displasia craneofrontonasal","Spanish_GARD_Synonym__c":"cfnd; cfns; síndrome craneofrontonasal","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":"Craniofrontonasal syndrome is a rare condition characterized by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face. The condition is named for the areas of the body that are typically affected: the skull (cranio-), face (fronto-), and nose (nasal). In people with craniofrontonasal syndrome, the skull bones along the coronal suture, which is the growth line that goes over the head from ear to ear, closes early. These changes can result in an abnormally shaped head and distinctive facial features. The size and shape of facial structures may differ between the right and left sides of the face (facial asymmetry) in individuals with craniofrontonasal syndrome. Affected individuals may also have wide-set eyes (ocular hypertelorism), eyes that do not point in the same direction (strabismus), involuntary eye movements (nystagmus), a slit (cleft) in the tip of the nose, a wide nasal bridge, an upper lip that points outward (called a tented lip), or a cleft in the upper lip with or without a cleft in roof of the mouth (palate). Some affected individuals have brain abnormalities, such as absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis or dysgenesis of the corpus callosum). However, intelligence is usually unaffected in people with this condition. Females with craniofrontonasal syndrome typically have more severe signs and symptoms than affected males, who often have hypertelorism and rarely, cleft lip. Other common features of craniofrontonasal syndrome include extra folds of skin on the neck (webbed neck), ridged nails, unusual curving of the fingers or toes (clinodactyly), extra fingers (polydactyly) or fingers that are fused together (syndactyly), low-set breasts, a sunken chest (pectus excavatum), a spine that curves to the side (scoliosis), or narrow and sloped shoulders with reduced range of motion. People with this condition may also have eyebrows that grow together in the middle (synophrys), a widow's peak hairline with a low hairline in the back, or wiry hair.","Curated_Disease_Description_Source__c":"GARD:0001578","GARD_Synonym__c":"cfnd; cfns; craniofrontonasal dysostosis; craniofrontonasal dysplasia; craniofrontonasal dysplasia, x-linked dominant","Name":"Craniofrontonasal syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Craniosynostosis and Positional Plagiocephaly Support Inc","Website__c":"https://www.cappskids.org/"},{"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":"Headlines Craniofacial Support","Website__c":"https://www.headlines.org.uk/"}],"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":"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:1520"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:1520"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0220767"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001578","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=65095","Source__c":"C0220767","Xref__c":"MEDGEN:65095"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14737","Source__c":"MONDO:0010570","Xref__c":"DOID:14737"},{"URL__c":"https://www.orpha.net/en/disease/detail/1520","Source__c":"C0220767; MONDO:0010570; ORPHA:1520","Xref__c":"ORPHA:1520"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715421009","Source__c":"C0220767; MONDO:0010570","Xref__c":"715421009"},{"URL__c":"https://www.omim.org/entry/304110","Source__c":"C0220767; MONDO:0010570; ORPHA:1520","Xref__c":"OMIM:304110"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536456","Source__c":"MONDO:0010570","Xref__c":"C536456"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0220767","Source__c":"C0220767","Xref__c":"C0220767"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010570","Source__c":"GARD:0001578","Xref__c":"MONDO:0010570"},{"URL__c":"https://medlineplus.gov/genetics/condition/craniofrontonasal-syndrome","Source__c":"GARD:0001578","Xref__c":"https://medlineplus.gov/genetics/condition/craniofrontonasal-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"EFNB1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/efnb1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Low set, steeply sloping shoulders.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200021","HPO_Synonym__c":"Down-sloping shoulders; Rounded shoulders; Rounded, sloping shoulders; Sloping shoulders","HPO_Name__c":"Down-sloping shoulders","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","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:1520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001161","HPO_Synonym__c":"Extra finger; Finger polydactyly; Polydactyly of the hand; Supernumerary finger","HPO_Name__c":"Hand polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002224","HPO_Synonym__c":"Kinked hair; Wooly hair","HPO_Name__c":"Woolly hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000912","HPO_Synonym__c":"Congenital, upward displacement of the scapula; High scapula; High shoulder blade; Sprengel deformity","HPO_Name__c":"Sprengel anomaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A widely spaced gap between the first toe (the great toe) and the second toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001852","HPO_Synonym__c":"Gap between 1st and 2nd toes; Gap between first and second toe; Increased space between first and second toes; Sandal gap between first and second toes; Space between great toe and second toe; Wide space between 1st, 2nd toes; Wide space between first and second toes; Wide-spaced big toe; Widely spaced 1st-2nd toes; Widely spaced first and second toes; Widened gap 1st-2nd toes; Widened gap first and second toe","HPO_Name__c":"Sandal gap","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","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:1520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001357","HPO_Synonym__c":"Flat head syndrome; Flattening of cranial vault; Flattening of cranium; Flattening of skull; Rhomboid shaped cranium; Rhomboid shaped skull","HPO_Name__c":"Plagiocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A defect of the chest wall characterized by a depression of the sternum, giving the chest (\\\"pectus\\\") a caved-in (\\\"excavatum\\\") appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000767","HPO_Synonym__c":"Funnel chest","HPO_Name__c":"Pectus excavatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","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:1520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000457","HPO_Synonym__c":"Depressed dorsum of nose; Depressed nasal dorsum; Flat dorsum of nose; Flat nasal dorsum; Flat nose; Recessed dorsum of nose; Recessed nasal dorsum; Recessed nasal ridge; Retruded dorsum of nose; Retruded nasal dorsum; Retruded nasal ridge","HPO_Name__c":"Depressed nasal ridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased breadth of the nasal bridge (and with it, the nasal root).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000431","HPO_Synonym__c":"Broad nasal bridge; Broad nasal root; Broadened nasal bridge; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Nasal bridge broad; Nasal bridge, wide; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge","HPO_Name__c":"Wide nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","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:1520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000474","HPO_Synonym__c":"Excess nuchal skin; Increased nuchal fold; Increased nuchal fold thickness; Thick nuchal fold; Thickened nuchal skin; Thickened skin folds of neck; Thickened skin over the neck","HPO_Name__c":"Thickened nuchal skin fold","HPO_Feature_Type__c":"Imaging_Ultrasound_Fetal"}},{"Provided_By__c":"ORPHA:1520","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Longitudinal, linear prominences in the fingernail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008402","HPO_Synonym__c":"Longitudinally grooved fingernails; Ridged fingernail","HPO_Name__c":"Ridged fingernail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004122","HPO_Synonym__c":"Central defect of nose; Central nasal defect; Midline defect of the nose; Midline nasal defect","HPO_Name__c":"Midline defect of the nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase in width in one or more phalanges of the big toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010059","HPO_Synonym__c":"Broad bone of big toe; Broad phalanges of the hallux; Wide bone of big toe","HPO_Name__c":"Broad hallux phalanx","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal difference between the left and right sides of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000324","HPO_Synonym__c":"Asymmetric facies; Asymmetry of face; Asymmetry of right and left side of face; Crooked face; Facial asymmetry; Unsymmetrical face","HPO_Name__c":"Facial asymmetry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001382","HPO_Synonym__c":"Double-Jointed; Extensible joints; Flexible joints; Hyperextensible joints; Increased joint mobility; Increased mobility of joints; Joint hyperextensibility; Joint hyperflexibility; Joint hyperlaxity; Joint laxity; Joints move beyond expected range of motion; Lax joints; Loose-jointedness","HPO_Name__c":"Joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006585","HPO_Synonym__c":"Clavicle pseudoarthrosis; Pseudoarthrosis of clavicle","HPO_Name__c":"Congenital pseudoarthrosis of the clavicle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","HPO_Frequency__c":"Frequent (30-79%)","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:1520","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a hernia of the diaphragm present at birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000776","HPO_Synonym__c":"Diaphragmatic hernia","HPO_Name__c":"Congenital diaphragmatic hernia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","HPO_Frequency__c":"Frequent (30-79%)","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:1520","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:1520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004209","HPO_Synonym__c":"Bilateral fifth digit clinodactyly; Bilateral fifth finger clinodactyly; Clinodactyly of fifth digit; Clinodactyly of the little finger; Fifth finger clinodactyly; Permanent curving of the pinkie finger","HPO_Name__c":"Clinodactyly of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006709","HPO_Synonym__c":"Absent/rudimentary nipples; Absent/small nipples; Absent/underdeveloped nipples; Nipples absent or rudimentary","HPO_Name__c":"Aplasia/Hypoplasia of the nipples","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002007","HPO_Synonym__c":"Frontal protuberance; Skull bossing","HPO_Name__c":"Frontal bossing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000202","HPO_Synonym__c":"Cleft of the mouth; Oral cleft; Oral clefting","HPO_Name__c":"Orofacial cleft","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","HPO_Frequency__c":"Frequent (30-79%)","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:1520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hair on the neck extends more inferiorly than usual.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002162","HPO_Synonym__c":"Low hairline at back of neck; Low posterior hair line","HPO_Name__c":"Low posterior hairline","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the texture of the hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010719","HPO_Synonym__c":"Abnormality of hair texture","HPO_Name__c":"Abnormality of hair texture","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Superior margin of the scrotum superior to the base of the penis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000049","HPO_Synonym__c":"Overriding scrotum; Scrotum surrounds penis","HPO_Name__c":"Shawl scrotum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","HPO_Frequency__c":"Frequent (30-79%)","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:1520","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the corpus callosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002079","HPO_Synonym__c":"Corpus callosum hypoplasia; Hypoplasia of corpus callosum; Hypoplastic corpus callosum; Underdevelopment of part of brain called corpus callosum","HPO_Name__c":"Hypoplasia of the corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006101","HPO_Synonym__c":"Partial syndactyly","HPO_Name__c":"Finger syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Frontal hairline with bilateral arcs to a low point in the midline of the forehead.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000349","HPO_Synonym__c":"Hairline peak; Hairline point; Pointed frontal hairline; Pointed hairline at front of head; V-shaped frontal hairline; Widow's peak","HPO_Name__c":"Widow's peak","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","HPO_Frequency__c":"Very frequent (80-99%)","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:1520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the clavicles (collar bones).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000889","HPO_Synonym__c":"Abnormal clavicles; Abnormal collarbone; Abnormality of the clavicle","HPO_Name__c":"Abnormal clavicle morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1520","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Orthopedics","Neurodevelopmental disabilities","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["cfnd"," cfns"," craniofrontonasal dysostosis"," craniofrontonasal dysplasia"," craniofrontonasal dysplasia, x-linked dominant"]}