{"Name":"Spondyloepimetaphyseal dysplasia, Bieganski type","DiseaseID__c":"GARD:0004891","id":4891,"encodedName":"spondyloepimetaphyseal-dysplasia-bieganski-type","IsDeleted":false,"Disease_Name_Full__c":"Spondyloepimetaphyseal dysplasia, Bieganski type","Xref_IDs__c":"C1846148; C536671; C567065; MEDGEN:335350; MONDO:0010275; OMIM:300232; ORPHA:83629","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010275","Disease_Description__c":"A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.","GARD_Name__c":"Spondyloepimetaphyseal dysplasia, Bieganski type","GARD_Synonym__c":"h-smd; hypomyelination-spondyloepimetaphyseal dysplasia syndrome; leukoencephalopathy with metaphyseal chondrodysplasia; leukoencephalopathy-metaphyseal chondrodysplasia syndrome; leukoencephalopathy-semd syndrome; leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome; semd x-linked with mental deterioration; spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy; spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy, x-linked recessive","Curated_Disease_Description_Source__c":"MEDGEN:C1846148","Curated_Disease_Description__c":"X-linked spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy (SEMDHL) is an X-linked recessive developmental disorder characterized by slowly progressive skeletal and neurologic abnormalities, including short stature, large and deformed joints, significant motor impairment, visual defects, and sometimes cognitive deficits. Affected individuals typically have normal early development in the first year or so of life, followed by development regression and the development of symptoms. Brain imaging shows white matter abnormalities consistent with hypomyelinating leukodystrophy (summary by Miyake et al., 2017).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:83629","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010275","ORPHANET_ID__c":"ORPHA:83629","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de leucoencefalopatía-displasia espondiloepimetafisaria","Spanish_Description_Source__c":"ORPHA:83629","Spanish_Description__c":"Es un trastorno neurológico de origen genético y poco frecuente caracterizado por la asociación de leucodistrofia hipomielinizante y displasia espondilometafisaria. Los pacientes se presentan en la infancia con incapacidad o retraso de la deambulación independiente, deterioro motor lentamente progresivo, espasticidad, ataxia, debilidad proximal y contracturas articulares. Otras manifestaciones adicionales incluyen leve deterioro cognitivo, talla baja, escoliosis, articulaciones ensanchadas y deformadas, disartria, nistagmo, defectos visuales y características levemente dismórficas, entre otras. El modo de herencia es recesivo ligado al cromosoma X.","Spanish_Disease_Name__c":"síndrome de leucoencefalopatía-displasia espondiloepimetafisaria","Spanish_GARD_Synonym__c":"síndrome de hipomielinización-displasia espondiloepimetafisaria; síndrome de leucoencefalopatía-condrodisplasia metafisaria","Category_Linearization__c":"ORPHA:98006","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":"X-linked spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy (SEMDHL) is an X-linked recessive developmental disorder characterized by slowly progressive skeletal and neurologic abnormalities, including short stature, large and deformed joints, significant motor impairment, visual defects, and sometimes cognitive deficits. Affected individuals typically have normal early development in the first year or so of life, followed by development regression and the development of symptoms. Brain imaging shows white matter abnormalities consistent with hypomyelinating leukodystrophy (summary by Miyake et al., 2017).","Curated_Disease_Description_Source__c":"MEDGEN:C1846148","GARD_Synonym__c":"h-smd; hypomyelination-spondyloepimetaphyseal dysplasia syndrome; leukoencephalopathy with metaphyseal chondrodysplasia; leukoencephalopathy-metaphyseal chondrodysplasia syndrome; leukoencephalopathy-semd syndrome; leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome; semd x-linked with mental deterioration; spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy; spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy, x-linked recessive","Name":"Spondyloepimetaphyseal dysplasia, Bieganski type","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"},{"Account_Name__c":"Kniest SED Group","Website__c":"https://ksginfo.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":"Leukodystrophy","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Leukodystrophies are a group of genetic neurological diseases that affect the white matter of the brain and spinal cord.","curated_tag_name":"Leukodystrophies"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:83629"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:83629"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1846148"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004891","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1846148","Source__c":"C1846148","Xref__c":"C1846148"},{"URL__c":"https://www.orpha.net/en/disease/detail/83629","Source__c":"C1846148; MONDO:0010275","Xref__c":"ORPHA:83629"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567065","Source__c":"MONDO:0010275","Xref__c":"C567065"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=335350","Source__c":"C1846148","Xref__c":"MEDGEN:335350"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536671","Source__c":"MONDO:0010275","Xref__c":"C536671"},{"URL__c":"https://www.omim.org/entry/300232","Source__c":"C1846148; MONDO:0010275; ORPHA:83629","Xref__c":"OMIM:300232"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010275","Source__c":"GARD:0004891","Xref__c":"MONDO:0010275"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AIFM1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:83629","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000463","HPO_Synonym__c":"Anteverted nose; Anteverted nostrils; Nasal tip, upturned; Nostrils anteverted; Upturned nares; Upturned nasal tip; Upturned nose; Upturned nostrils","HPO_Name__c":"Anteverted nares","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83629","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83629","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nystagmus consisting of horizontal to-and-fro eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000666","HPO_Synonym__c":"Nystagmus, horizontal","HPO_Name__c":"Horizontal nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83629","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004349","HPO_Synonym__c":"Decreased bone mineral density; Decreased bone mineral density Z score; Low solidness and mass of the bones","HPO_Name__c":"Reduced bone mineral density","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83629","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000587","HPO_Synonym__c":"Abnormality of the optic nerve; optic nerve abnormalities; Optic nerve issue","HPO_Name__c":"Abnormal optic nerve morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83629","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:83629","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Complete loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001258","HPO_Synonym__c":"Spastic paraplegia, lower limb","HPO_Name__c":"Spastic paraplegia","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83629","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011800","HPO_Synonym__c":"Decreased size of midface; Flat midface; Hypoplasia of midface; Midface deficiency; Midface hypoplasia; Midface retrusion; Midface, flat; Retrusive midface; Underdevelopment of midface","HPO_Name__c":"Midface retrusion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83629","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002352","HPO_Name__c":"Leukoencephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83629","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83629","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement about a joint axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001337","HPO_Synonym__c":"Tremor; Tremors","HPO_Name__c":"Tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83629","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003487","HPO_Synonym__c":"Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign","HPO_Name__c":"Babinski sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83629","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the knee joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030866","HPO_Name__c":"Large knee","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83629","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of astrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100707","HPO_Synonym__c":"Abnormality of the astrocytes","HPO_Name__c":"Abnormal astrocyte morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83629","HPO_Frequency__c":"Frequent (30-79%)","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:83629","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83629","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030051","HPO_Synonym__c":"Tiptoe gait; Toe walking; Walking on tiptoes","HPO_Name__c":"Tip-toe gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83629","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012747","HPO_Name__c":"Abnormal brainstem MRI signal intensity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}},{"Provided_By__c":"ORPHA:83629","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003020","HPO_Synonym__c":"Enlargement of the wrists","HPO_Name__c":"Enlargement of the wrists","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83629","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002059","HPO_Synonym__c":"Degeneration of cerebrum","HPO_Name__c":"Cerebral atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83629","HPO_Frequency__c":"Occasional (5-29%)","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:83629","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005871","HPO_Name__c":"Metaphyseal chondrodysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83629","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002062","HPO_Synonym__c":"Abnormality of the pyramidal tracts; Morphological abnormality of the pyramidal tract","HPO_Name__c":"Abnormal pyramidal tract morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Leukodystrophy"],"Disease Category":["Genetics","Neurology","Congenital Abnormality","Leukodystrophy"],"Specialist":["Genetics","Neurology","Orthopedics","Pediatrics"],"Account":["Leukodystrophy"]},"synonyms":["h-smd"," hypomyelination-spondyloepimetaphyseal dysplasia syndrome"," leukoencephalopathy with metaphyseal chondrodysplasia"," leukoencephalopathy-metaphyseal chondrodysplasia syndrome"," leukoencephalopathy-semd syndrome"," leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome"," semd x-linked with mental deterioration"," spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy"," spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy, x-linked recessive"]}