{"Name":"Wieacker-Wolff syndrome","DiseaseID__c":"GARD:0007890","id":7890,"encodedName":"wieacker-wolff-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Wieacker-Wolff syndrome","Xref_IDs__c":"719012009; 722456001; C0796200; C536703; DOID:0060815; MEDGEN:163227; MONDO:0010758; OMIM:314580; ORPHA:3454","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010758","Disease_Description__c":"Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis; see this term) and intellectual disability.","GARD_Name__c":"Wieacker-Wolff syndrome","GARD_Synonym__c":"apraxia, oculomotor, with congenital contractures and muscle atrophy; contractures of feet, muscle atrophy, and oculomotor apraxia; foot contracture, muscle atrophy, oculomotor apraxia syndrome; foot contractures-muscle atrophy-oculomotor apraxia syndrome; intellectual disability-developmental delay-contractures syndrome; intellectual disability, developmental delay, contracture syndrome; miles-carpenter syndrome; mrxs4; wieacker syndrome; wieacker wolff syndrome; wieacker-wolff syndrome, x-linked; wieacker-wolff syndrome, x-linked recessive; wieacker-wolff, x-linked recessive; wrwf; wrwfxlr; x-linked intellectual disability, miles-carpenter type; zc4h2-associated rare disorders (zard)","Curated_Disease_Description_Source__c":"GARD:0007890","Curated_Disease_Description__c":"Intellectual disability-developmental delay-contractures syndrome is a rare, slowly progressive genetic disorder that is present at birth. It is characterized by contractures of the joints of the feet (arthrogryposis multiplex congenita), muscle degeneration (atrophy), mild intellectual disability and an impaired ability to move certain muscles of the eyes, face and tongue. Other symptoms might include spasticity and seizures. Intellectual disability-developmental delay-contractures syndrome is caused by genetic changes in the ZC4H2 gene and is inherited in an X-linked recessive fashion. Most people with Intellectual disability-developmental delay-contractures syndrome are male; however carrier females have been reported to have mild symptoms.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:3454","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010758","ORPHANET_ID__c":"ORPHA:3454","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de wieacker-wolff","Spanish_Description_Source__c":"ORPHA:3454","Spanish_Description__c":"Es un grave trastorno del neurodesarrollo recesivo ligado al cromosoma X, caracterizado por graves contracturas (artrogriposis) y discapacidad intelectual.","Spanish_Disease_Name__c":"síndrome de wieacker-wolff","Spanish_GARD_Synonym__c":"síndrome de contracturas en los pies-atrofia muscular-apraxia oculomotora","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":"Intellectual disability-developmental delay-contractures syndrome is a rare, slowly progressive genetic disorder that is present at birth. It is characterized by contractures of the joints of the feet (arthrogryposis multiplex congenita), muscle degeneration (atrophy), mild intellectual disability and an impaired ability to move certain muscles of the eyes, face and tongue. Other symptoms might include spasticity and seizures. Intellectual disability-developmental delay-contractures syndrome is caused by genetic changes in the ZC4H2 gene and is inherited in an X-linked recessive fashion. Most people with Intellectual disability-developmental delay-contractures syndrome are male; however carrier females have been reported to have mild symptoms.","Curated_Disease_Description_Source__c":"GARD:0007890","GARD_Synonym__c":"apraxia, oculomotor, with congenital contractures and muscle atrophy; contractures of feet, muscle atrophy, and oculomotor apraxia; foot contracture, muscle atrophy, oculomotor apraxia syndrome; foot contractures-muscle atrophy-oculomotor apraxia syndrome; intellectual disability-developmental delay-contractures syndrome; intellectual disability, developmental delay, contracture syndrome; miles-carpenter syndrome; mrxs4; wieacker syndrome; wieacker wolff syndrome; wieacker-wolff syndrome, x-linked; wieacker-wolff syndrome, x-linked recessive; wieacker-wolff, x-linked recessive; wrwf; wrwfxlr; x-linked intellectual disability, miles-carpenter type; zc4h2-associated rare disorders (zard)","Name":"Wieacker-Wolff syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"ZC4H2 Research Foundation","Website__c":"https://www.zc4h2foundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3454"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0796200"},{"Type__c":"GTR","Curie__c":"MEDGEN:C1839735"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007890","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/314580","Source__c":"C0796200; MONDO:0010758","Xref__c":"OMIM:314580"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536703","Source__c":"MONDO:0010758","Xref__c":"C536703"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719012009","Source__c":"MONDO:0010758","Xref__c":"719012009"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722456001","Source__c":"C0796200; MONDO:0010758","Xref__c":"722456001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0796200","Source__c":"C0796200","Xref__c":"C0796200"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060815","Source__c":"MONDO:0010758","Xref__c":"DOID:0060815"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=163227","Source__c":"C0796200","Xref__c":"MEDGEN:163227"},{"URL__c":"https://www.orpha.net/en/disease/detail/3454","Source__c":"C0796200; MONDO:0010758; ORPHA:3454","Xref__c":"ORPHA:3454"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010758","Source__c":"GARD:0007890","Xref__c":"MONDO:0010758"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ZC4H2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3454","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Muscular atrophy affecting muscles in the distal portions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003693","HPO_Synonym__c":"Amyotrophy of distal limb muscles; Distal amyotrophy, especially of the hands and feet; Distal limb muscle atrophy; Distal muscle atrophy; Distal muscle atrophy, upper and lower limbs; Distal muscle degeneration; Distal muscle wasting; Distal muscular atrophy; Muscle atrophy, distal","HPO_Name__c":"Distal amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3454","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:3454","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005745","HPO_Name__c":"Congenital foot contractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3454","HPO_Frequency__c":"Very frequent (80-99%)","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:3454","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality in voluntary or involuntary eye movements or their control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000496","HPO_Synonym__c":"Abnormal extraocular movement; Abnormal extraocular movements; Abnormal eye motility; Abnormal eye movement; Abnormal eye movements; Abnormal motility of the globe of the eye; Abnormal movement of the globe of the eye; Abnormal ocular movements; Abnormality of eye movement; Eye movement abnormalities; Eye movement issue; Ocular movement abnormalities; Oculomotor abnormalities","HPO_Name__c":"Abnormality of eye movement","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3454","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:3454","HPO_Frequency__c":"Very frequent (80-99%)","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:3454","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality in the sound (volume) or cadence (rate) of speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002167","HPO_Synonym__c":"Abnormal speech; Abnormal vocalization; Abnormality of speech or vocalization","HPO_Name__c":"Abnormal speech pattern","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3454","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100022","HPO_Synonym__c":"Abnormality of movement; Movement disorder; Unusual movement","HPO_Name__c":"Abnormality of movement","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3454","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the freedom of movement of one or more joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001376","HPO_Synonym__c":"Decreased joint mobility; Decreased mobility of joints; Limitation of joint mobility; Limited joint mobility; Limited joint motion","HPO_Name__c":"Limitation of joint mobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3454","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3454","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3454","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3454","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000657","HPO_Synonym__c":"Ocular motor apraxia","HPO_Name__c":"Oculomotor apraxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Orthopedics","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["apraxia, oculomotor, with congenital contractures and muscle atrophy"," contractures of feet, muscle atrophy, and oculomotor apraxia"," foot contracture, muscle atrophy, oculomotor apraxia syndrome"," foot contractures-muscle atrophy-oculomotor apraxia syndrome"," intellectual disability-developmental delay-contractures syndrome"," intellectual disability, developmental delay, contracture syndrome"," miles-carpenter syndrome"," mrxs4"," wieacker syndrome"," wieacker wolff syndrome"," wieacker-wolff syndrome, x-linked"," wieacker-wolff syndrome, x-linked recessive"," wieacker-wolff, x-linked recessive"," wrwf"," wrwfxlr"," x-linked intellectual disability, miles-carpenter type"," zc4h2-associated rare disorders (zard)"]}