{"Name":"Larsen syndrome","DiseaseID__c":"GARD:0006860","id":6860,"encodedName":"larsen-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Larsen syndrome","Xref_IDs__c":"63387002; C0175778; C580241; DOID:14764; MEDGEN:104500; MONDO:0007875; OMIM:150250; ORPHA:503","USA_Estimate__c":"5,000","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":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0007875","Disease_Description__c":"An orofacial clefting syndrome characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.","GARD_Name__c":"Larsen syndrome","GARD_Synonym__c":"bilateral dislocation of the knees, pes cavus, cylindrically shaped fingers and characteristic facies; dominant larsen syndrome; lrs","Curated_Disease_Description_Source__c":"GARD:0006860","Curated_Disease_Description__c":"Larsen syndrome is a disorder that affects the development of bones throughout the body. The signs and symptoms of Larsen syndrome vary widely even within the same family. Affected individuals are usually born with dislocations of the hips, knees, or elbows. Foot abnormalities, such as inward- and upward-turning feet (clubfeet), are also common. Affected individuals generally have small extra bones in their wrists and ankles that are visible on x-ray images. The tips of their fingers, especially the thumbs, are typically blunt and square-shaped (spatulate). Characteristic facial features in people with Larsen syndrome include a prominent forehead (frontal bossing), flattening of the bridge of the nose and middle of the face (midface hypoplasia), and wide-set eyes (ocular hypertelorism). Many people with Larsen syndrome have an opening in the roof of the mouth (a cleft palate). Affected individuals may also have hearing loss caused by malformations in tiny bones in the ears (ossicles). Short stature is a common feature of Larsen syndrome. In addition, people with the condition may have an unusually large range of joint movement (hypermobility) or joint deformities (contractures) that restrict movement. People with Larsen syndrome can also have abnormal curvature of the spine (kyphosis or scoliosis) that can impair breathing or compress the spinal cord and lead to weakness of the limbs. Some affected individuals experience respiratory problems, such as partial closing of the airways, short pauses in breathing (apnea), and frequent respiratory infections. Heart and kidney problems can also occur in people with Larsen syndrome. People with this condition can survive into adulthood. Their intellectual function is usually unaffected.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:503","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007875","ORPHANET_ID__c":"ORPHA:503","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de larsen","Spanish_Description_Source__c":"ORPHA:503","Spanish_Description__c":"Es un síndrome de fisura orofacial caracterizado por la luxación congénita de grandes articulaciones, deformidades de los pies, displasia de la columna cervical, escoliosis, falanges distales en forma de espátula y anomalías craneofaciales distintivas, incluida la fisura palatina.","Spanish_Disease_Name__c":"síndrome de larsen","Spanish_GARD_Synonym__c":null,"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":"Larsen syndrome is a disorder that affects the development of bones throughout the body. The signs and symptoms of Larsen syndrome vary widely even within the same family. Affected individuals are usually born with dislocations of the hips, knees, or elbows. Foot abnormalities, such as inward- and upward-turning feet (clubfeet), are also common. Affected individuals generally have small extra bones in their wrists and ankles that are visible on x-ray images. The tips of their fingers, especially the thumbs, are typically blunt and square-shaped (spatulate). Characteristic facial features in people with Larsen syndrome include a prominent forehead (frontal bossing), flattening of the bridge of the nose and middle of the face (midface hypoplasia), and wide-set eyes (ocular hypertelorism). Many people with Larsen syndrome have an opening in the roof of the mouth (a cleft palate). Affected individuals may also have hearing loss caused by malformations in tiny bones in the ears (ossicles). Short stature is a common feature of Larsen syndrome. In addition, people with the condition may have an unusually large range of joint movement (hypermobility) or joint deformities (contractures) that restrict movement. People with Larsen syndrome can also have abnormal curvature of the spine (kyphosis or scoliosis) that can impair breathing or compress the spinal cord and lead to weakness of the limbs. Some affected individuals experience respiratory problems, such as partial closing of the airways, short pauses in breathing (apnea), and frequent respiratory infections. Heart and kidney problems can also occur in people with Larsen syndrome. People with this condition can survive into adulthood. Their intellectual function is usually unaffected.","Curated_Disease_Description_Source__c":"GARD:0006860","GARD_Synonym__c":"bilateral dislocation of the knees, pes cavus, cylindrically shaped fingers and characteristic facies; dominant larsen syndrome; lrs","Name":"Larsen syndrome","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"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":"The MAGIC Foundation","Website__c":"https://www.magicfoundation.org/"},{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.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":"World Craniofacial Foundation","Website__c":"https://www.worldcf.org/"},{"Account_Name__c":"European Reference Network on Bone Disorders","Website__c":"https://ernbond.eu/"}],"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":"Rheumatology","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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:503"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:503"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:503"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0175778"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006860","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK2534","Source__c":"Gene Review","Xref__c":"NBK2534"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=63387002","Source__c":"C0175778; MONDO:0007875","Xref__c":"63387002"},{"URL__c":"https://www.orpha.net/en/disease/detail/503","Source__c":"C0175778; MONDO:0007875; ORPHA:503","Xref__c":"ORPHA:503"},{"URL__c":"https://www.omim.org/entry/150250","Source__c":"C0175778; MONDO:0007875; ORPHA:503","Xref__c":"OMIM:150250"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C580241","Source__c":"MONDO:0007875","Xref__c":"C580241"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0175778","Source__c":"C0175778","Xref__c":"C0175778"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14764","Source__c":"MONDO:0007875","Xref__c":"DOID:14764"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=104500","Source__c":"C0175778","Xref__c":"MEDGEN:104500"},{"URL__c":"https://medlineplus.gov/genetics/condition/larsen-syndrome","Source__c":"GARD:0006860","Xref__c":"https://medlineplus.gov/genetics/condition/larsen-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007875","Source__c":"GARD:0006860","Xref__c":"MONDO:0007875"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FLNB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/flnb","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:503","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009882","HPO_Synonym__c":"Brachytelophalangy; Distal phalangeal hypoplasia; Hypoplasia of the distal phalanges; Hypoplasia of the distal phalanges of the hand; Hypoplastic distal phalanges; Hypoplastic terminal phalanges; Short distal phalanges; Short outermost finger bone; Terminal phalangeal hypoplasia of hand","HPO_Name__c":"Short distal phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:503","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased thumb width without increased dorso-ventral dimension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011304","HPO_Synonym__c":"Broad phalanges of the thumb; Broad thumb; Broad thumbs; Wide/broad thumb; Wide/broad thumb phalanges","HPO_Name__c":"Broad thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:503","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000272","HPO_Synonym__c":"Decreased size of malar bone; Depressed malar region; Flat cheekbone; Malar hypoplasia; Underdevelopment of malar bone; Zygomatic flattening","HPO_Name__c":"Malar flattening","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:503","HPO_Frequency__c":"Occasional (5-29%)","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:503","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the cardiovascular system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001626","HPO_Synonym__c":"Abnormality of the cardiovascular system; Cardiovascular abnormality","HPO_Name__c":"Abnormality of the cardiovascular system","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:503","HPO_Frequency__c":"Occasional (5-29%)","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:503","HPO_Frequency__c":"Occasional (5-29%)","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:503","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally wide (broad) distal phalanx of finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009836","HPO_Synonym__c":"Broad distal phalanges; Broad distal phalanges of the hand; Broad distal phalanx; Broad outermost finger bone; Broad terminal phalanges; Broad, square ends of distal phalanges; Spatulate terminal phalanges","HPO_Name__c":"Broad distal phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:503","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the cervical vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003319","HPO_Synonym__c":"Abnormal cervical spine; Abnormality of cervical vertebra; Abnormality of the cervical vertebrae; Cervical spine abnormalities; Cervical vertebral abnormalities; Disorder of cervical vertebra","HPO_Name__c":"Abnormality of the cervical spine","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:503","HPO_Frequency__c":"Occasional (5-29%)","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:503","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of more than the normal number of carpal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004232","HPO_Synonym__c":"Supernumerary carpal bones","HPO_Name__c":"Accessory carpal bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:503","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of concavity or convexity of the face when viewed in profile.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012368","HPO_Synonym__c":"Flat face; Flat facial profile; Flat facial shape; Flat facies","HPO_Name__c":"Flat face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:503","HPO_Frequency__c":"Very frequent (80-99%)","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:503","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008755","HPO_Name__c":"Laryngotracheomalacia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:503","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Posterior positioning of the nasal root in relation to the overall facial profile for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005280","HPO_Synonym__c":"Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge","HPO_Name__c":"Depressed nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:503","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005008","HPO_Synonym__c":"Large joint dislocations","HPO_Name__c":"Large joint dislocations","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:503","HPO_Frequency__c":"Occasional (5-29%)","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:503","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000405","HPO_Synonym__c":"Conduction deafness; Conductive deafness; Conductive hearing loss; Hearing loss, conductive","HPO_Name__c":"Conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:503","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Forward prominence of the entire forehead, due to protrusion of the frontal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011220","HPO_Synonym__c":"Prominence of frontal region; Prominent forehead; Pronounced forehead; Protruding forehead","HPO_Name__c":"Prominent forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:503","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:503","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality related to a defect of vertebral separation during development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003422","HPO_Synonym__c":"Abnormal spinal segmentation","HPO_Name__c":"Vertebral segmentation defect","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:503","HPO_Frequency__c":"Occasional (5-29%)","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:503","HPO_Frequency__c":"Occasional (5-29%)","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:503","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005930","HPO_Synonym__c":"Abnormal shape of end part of bone; Abnormality of epiphysis morphology; Abnormality of the epiphyses; Anomaly of the epiphyses; Epiphyseal abnormality","HPO_Name__c":"Abnormal epiphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:503","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:503","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:503","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased length of nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001799","HPO_Synonym__c":"Short nail; Short nails","HPO_Name__c":"Short nail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Rheumatology","Orthopedics","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["bilateral dislocation of the knees, pes cavus, cylindrically shaped fingers and characteristic facies"," dominant larsen syndrome"," lrs"],"spanishId":13482,"spanishName":"sindrome-de-larsen"}