{"Name":"Von Voss-Cherstvoy syndrome","DiseaseID__c":"GARD:0001894","id":1894,"encodedName":"von-voss-cherstvoy-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Von Voss-Cherstvoy syndrome","Xref_IDs__c":"719021005; C1857226; C565618; MEDGEN:341728; MONDO:0009121; OMIM:223340; ORPHA:3439","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0009121","Disease_Description__c":"Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.","GARD_Name__c":"Von Voss-Cherstvoy syndrome","GARD_Synonym__c":"dk phocomelia syndrome; phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome; phocomelia, thrombocytopenia, encephalocele and urogenital malformation syndrome; phocomelia, thrombocytopenia, encephalocele, urogenital malformations","Curated_Disease_Description_Source__c":"GARD:0001894","Curated_Disease_Description__c":"Von Voss-Cherstvoy syndrome is a very rare disorder characterized by shortened or absent arms (phocomelia), sac-like protrusions of the brain and the membranes that cover it through openings in the skull (encephalocele), variable brain abnormalities, urogenital abnormalities, and abnormally low platelets (thrombocytopenia). Intellectual development is usually normal. As of May 2010, less than 15 cases have been reported. The exact cause of this condition is unknown; but autosomal recessive inheritance has been suggested.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:3439","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009121","ORPHANET_ID__c":"ORPHA:3439","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de von voss-cherstvoy","Spanish_Description_Source__c":"ORPHA:3439","Spanish_Description__c":"Es un trastorno muy poco frecuente caracterizado por: focomelia de las extremidades superiores, encefalocele, anomalías cerebrales variables, anomalías urogenitales y trombocitopenia.","Spanish_Disease_Name__c":"síndrome de von voss-cherstvoy","Spanish_GARD_Synonym__c":null,"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":"Von Voss-Cherstvoy syndrome is a very rare disorder characterized by shortened or absent arms (phocomelia), sac-like protrusions of the brain and the membranes that cover it through openings in the skull (encephalocele), variable brain abnormalities, urogenital abnormalities, and abnormally low platelets (thrombocytopenia). Intellectual development is usually normal. As of May 2010, less than 15 cases have been reported. The exact cause of this condition is unknown; but autosomal recessive inheritance has been suggested.","Curated_Disease_Description_Source__c":"GARD:0001894","GARD_Synonym__c":"dk phocomelia syndrome; phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome; phocomelia, thrombocytopenia, encephalocele and urogenital malformation syndrome; phocomelia, thrombocytopenia, encephalocele, urogenital malformations","Name":"Von Voss-Cherstvoy syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3439"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3439"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:3439"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719021005","Source__c":"C1857226; MONDO:0009121","Xref__c":"719021005"},{"URL__c":"https://www.omim.org/entry/223340","Source__c":"C1857226; MONDO:0009121; ORPHA:3439","Xref__c":"OMIM:223340"},{"URL__c":"https://www.orpha.net/en/disease/detail/3439","Source__c":"C1857226; MONDO:0009121; ORPHA:3439","Xref__c":"ORPHA:3439"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857226","Source__c":"C1857226","Xref__c":"C1857226"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565618","Source__c":"MONDO:0009121","Xref__c":"C565618"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341728","Source__c":"C1857226","Xref__c":"MEDGEN:341728"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009121","Source__c":"GARD:0001894","Xref__c":"MONDO:0009121"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3439","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3439","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A degree of language development that is significantly below the norm for a child of a specified age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000750","HPO_Synonym__c":"Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay","HPO_Name__c":"Delayed speech and language development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3439","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:3439","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000453","HPO_Synonym__c":"Blockage of the rear opening of the nasal cavity","HPO_Name__c":"Choanal atresia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3439","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001627","HPO_Synonym__c":"Abnormality of cardiac morphology; Abnormality of the heart; Abnormally shaped heart; Cardiac abnormality; Cardiac anomalies; Cardiac anomaly; Congenital heart defect; Congenital heart defects; Heart defect","HPO_Name__c":"Abnormal heart morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3439","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000692","HPO_Synonym__c":"Abnormal dental position; Abnormal teeth spacing; Abnormality of alignment of teeth; Abnormality of teeth spacing; Crooked teeth; Malaligned teeth; Malposition of teeth; Malpositioned teeth; Misalignment of teeth; Teeth, malposition","HPO_Name__c":"Tooth malposition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3439","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:3439","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A small/hypoplastic or absent/aplastic radius.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006501","HPO_Synonym__c":"Absence or underdevelopment of the radius bone of the arm; Absent/small radius; Absent/underdeveloped radius; Radial aplasia/hypoplasia","HPO_Name__c":"Aplasia/Hypoplasia of the radius","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3439","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000062","HPO_Synonym__c":"Ambiguous external genitalia; Ambiguous external genitalia at birth; Intersex genitalia","HPO_Name__c":"Ambiguous genitalia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3439","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:3439","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:3439","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the urinary system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000079","HPO_Synonym__c":"Urinary tract abnormalities; Urinary tract abnormality; Urinary tract anomalies","HPO_Name__c":"Abnormality of the urinary system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3439","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009813","HPO_Name__c":"Upper limb phocomelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3439","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence (due to failure to form) or underdevelopment of the bones of the upper limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006496","HPO_Synonym__c":"Absent/small bones of the upper limbs; Absent/underdeveloped bones of the upper limbs","HPO_Name__c":"Aplasia/hypoplasia involving bones of the upper limbs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3439","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Exaggerated anterior convexity of the thoracic vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002808","HPO_Synonym__c":"Gibbus deformity; Hunched back; Hyperkyphosis; Round back","HPO_Name__c":"Kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3439","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000054","HPO_Synonym__c":"Short penis; Small penis","HPO_Name__c":"Micropenis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3439","HPO_Frequency__c":"Very frequent (80-99%)","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:3439","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000034","HPO_Synonym__c":"Testicular hydrocele","HPO_Name__c":"Hydrocele testis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3439","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000044","HPO_Synonym__c":"Hypogonadotrophic hypogonadism; Low gonadotropins (secondary hypogonadism)","HPO_Name__c":"Hypogonadotropic hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3439","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the corpus callosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007370","HPO_Synonym__c":"Absent/hypoplastic corpus callosum; Agenesis/hypoplastic corpus callosum; Complete or partial absence of the corpus callosum; Hypoplasia or absence of the corpus callosum; Hypoplastic or absent corpus callosum","HPO_Name__c":"Aplasia/Hypoplasia of the corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3439","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:3439","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100702","HPO_Synonym__c":"Fluid-filled sac located in membrane surrounding brain or spinal cord","HPO_Name__c":"Arachnoid cyst","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3439","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001328","HPO_Name__c":"Specific learning disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["dk phocomelia syndrome"," phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome"," phocomelia, thrombocytopenia, encephalocele and urogenital malformation syndrome"," phocomelia, thrombocytopenia, encephalocele, urogenital malformations"]}