{"Name":"Lethal Kniest-like dysplasia","DiseaseID__c":"GARD:0003124","id":3124,"encodedName":"lethal-kniest-like-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Lethal Kniest-like dysplasia","Xref_IDs__c":"C1855605; C537208; MEDGEN:383721; MONDO:0009498; OMIM:245190; ORPHA:2347","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009498","Disease_Description__c":"A rare, lethal, congenital, chondrodysplasia disorder characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities associated with a 'Swiss cheese' appearance of the cartilage matrix, as well as distinctive changes in the growth plate and resting cartilage, resulting in death in the neonatal period. There have been no further descriptions in the literature since 1983.","GARD_Name__c":"Lethal Kniest-like dysplasia","GARD_Synonym__c":"arthrosis, flat face, hypotonia, short neck and macrocephaly","Curated_Disease_Description_Source__c":"MONDO:0009498","Curated_Disease_Description__c":"A rare, lethal, congenital, chondrodysplasia disorder characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities associated with a 'Swiss cheese' appearance of the cartilage matrix, as well as distinctive changes in the growth plate and resting cartilage, resulting in death in the neonatal period. There have been no further descriptions in the literature since 1983.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2347","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009498","ORPHANET_ID__c":"ORPHA:2347","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia similar a kniest letal","Spanish_Description_Source__c":"ORPHA:2347","Spanish_Description__c":"Es una condrodisplasia congénita, letal y poco frecuente, caracterizada por huesos largos en forma de mancuerna con diáfisis notablemente reducidas e irregularidades metafisarias asociadas a una matriz cartilaginosa con apariencia de \"queso suizo\", así como por cambios distintivos en la placa de crecimiento y la zona de cartílago en reposo, causando el fallecimiento en el período neonatal. No ha habido más casos descritos en la literatura desde 1983.","Spanish_Disease_Name__c":"displasia similar a kniest letal","Spanish_GARD_Synonym__c":"displasia de kniest-like letal","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":"A rare, lethal, congenital, chondrodysplasia disorder characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities associated with a 'Swiss cheese' appearance of the cartilage matrix, as well as distinctive changes in the growth plate and resting cartilage, resulting in death in the neonatal period. There have been no further descriptions in the literature since 1983.","Curated_Disease_Description_Source__c":"MONDO:0009498","GARD_Synonym__c":"arthrosis, flat face, hypotonia, short neck and macrocephaly","Name":"Lethal Kniest-like dysplasia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Fetal Health Foundation","Website__c":"https://www.fetalhealthfoundation.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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2347"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537208","Source__c":"MONDO:0009498","Xref__c":"C537208"},{"URL__c":"https://www.omim.org/entry/245190","Source__c":"C1855605; MONDO:0009498; ORPHA:2347","Xref__c":"OMIM:245190"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=383721","Source__c":"C1855605","Xref__c":"MEDGEN:383721"},{"URL__c":"https://www.orpha.net/en/disease/detail/2347","Source__c":"C1855605; MONDO:0009498; ORPHA:2347","Xref__c":"ORPHA:2347"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1855605","Source__c":"C1855605","Xref__c":"C1855605"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009498","Source__c":"GARD:0003124","Xref__c":"MONDO:0009498"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000969","HPO_Synonym__c":"Dropsy; Fluid retention; Hydrops; Oedema; Water retention","HPO_Name__c":"Edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A thrusting or bulging out of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001538","HPO_Synonym__c":"Abdominal protuberance; Belly sticks out; Extended belly","HPO_Name__c":"Protuberant abdomen","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the ischium, which forms the lower and back part of the hip bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003174","HPO_Synonym__c":"Abnormality of the ischial bones; Abnormality of the ischium; Anomaly of the ischium","HPO_Name__c":"Abnormal ischium morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2347","HPO_Frequency__c":"Frequent (30-79%)","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:2347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000256","HPO_Synonym__c":"Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocephalus; Macrocrania; Megacephaly","HPO_Name__c":"Macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of excess amniotic fluid in the uterus during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001561","HPO_Synonym__c":"High levels of amniotic fluid; Hydramnios","HPO_Name__c":"Polyhydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diminished length of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000470","HPO_Synonym__c":"Decreased length of neck; Short neck","HPO_Name__c":"Short neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001762","HPO_Synonym__c":"Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus","HPO_Name__c":"Talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Wide, concave anterior rib end.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000907","HPO_Synonym__c":"Anterior cupping of ribs; Anteriorly splayed ribs","HPO_Name__c":"Anterior rib cupping","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003015","HPO_Synonym__c":"Flared wide portion of long bone; Flared, widened metaphyses; marked metaphyseal flaring of long bones; Metaphyseal flaring; Metaphyseal flaring of long bones; Metaphyseal splaying; Metaphyses flared; Splayed metaphyses","HPO_Name__c":"Flared metaphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2347","HPO_Frequency__c":"Frequent (30-79%)","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:2347","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:2347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any morphological abnormality of cartilage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002763","HPO_Synonym__c":"Abnormal shape of cartilage; Abnormality of cartilage morphology","HPO_Name__c":"Abnormal cartilage morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the ilium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000946","HPO_Synonym__c":"Short and small iliac bones; Small iliac bones","HPO_Name__c":"Hypoplastic ilia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005622","HPO_Synonym__c":"Broad long bones; Wide long bones; Widened long bones","HPO_Name__c":"Broad long bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000369","HPO_Synonym__c":"Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia","HPO_Name__c":"Low-set ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005026","HPO_Name__c":"Mesomelic/rhizomelic limb shortening","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A flattened vertebral body shape with reduced distance between the vertebral endplates.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000926","HPO_Synonym__c":"Flat vertebral bodies; Flattened vertebrae; Flattened vertebral bodies","HPO_Name__c":"Platyspondyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Enlargement of the anterior fontanelle with respect to age-dependent norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000260","HPO_Synonym__c":"Large anterior fontanel; Large anterior fontanelle; Large open anterior fontanel; Large open anterior fontanelle; Wide anterior fontanelle; Wide open anterior fontanelle; Wider-than-typical soft spot of skull","HPO_Name__c":"Wide anterior fontanel","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001623","HPO_Synonym__c":"Breech presentation at birth; Feet or buttocks of fetus positioned near opening of uterus","HPO_Name__c":"Breech presentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008178","HPO_Name__c":"Abnormal cartilage matrix","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001631","HPO_Synonym__c":"An opening in the wall separating the top two chambers of the heart; ASD; Atria septal defect; Atrial septum defect; Atrioseptal defect; Defect in the atrial septum; Hole in heart wall separating two upper heart chambers","HPO_Name__c":"Atrial septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008890","HPO_Name__c":"Severe short-limb dwarfism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000774","HPO_Synonym__c":"Low chest circumference; Narrow chest; Narrow shoulders; Narrow thorax; Reduced anterior-posterior chest diameter","HPO_Name__c":"Narrow chest","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Frontal schisis (cleft or cleavage) of vertebral bodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003417","HPO_Synonym__c":"coronal cleft of vertebrae; Coronal clefts; Coronal vertebral clefts; Vertebral coronal clefts","HPO_Name__c":"Coronal cleft vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008479","HPO_Synonym__c":"Small vertebrae; Small vertebral bodies; Underdeveloped back bones","HPO_Name__c":"Hypoplastic vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced rib length.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000773","HPO_Synonym__c":"Hypoplastic ribs; Rib hypoplasia; Short ribs","HPO_Name__c":"Short ribs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["arthrosis, flat face, hypotonia, short neck and macrocephaly"]}