{"Name":"Pyknoachondrogenesis","DiseaseID__c":"GARD:0004610","id":4610,"encodedName":"pyknoachondrogenesis","IsDeleted":false,"Disease_Name_Full__c":"Pyknoachondrogenesis","Xref_IDs__c":"719258003; C1849523; C536251; MEDGEN:337844; MONDO:0009942; OMIM:265880; ORPHA:3003","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009942","Disease_Description__c":"A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.","GARD_Name__c":"Pyknoachondrogenesis","GARD_Synonym__c":"camera syndrome","Curated_Disease_Description_Source__c":"MONDO:0009942","Curated_Disease_Description__c":"Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:3003","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009942","ORPHANET_ID__c":"ORPHA:3003","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Picnoacondrogénesis","Spanish_Description_Source__c":"ORPHA:3003","Spanish_Description__c":"Es una osteocondrodisplasia esquelética letal, caracterizada por osteosclerosis generalizada grave.","Spanish_Disease_Name__c":"picnoacondrogénesis","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":"Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.","Curated_Disease_Description_Source__c":"MONDO:0009942","GARD_Synonym__c":"camera syndrome","Name":"Pyknoachondrogenesis","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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:3003"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3003"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/265880","Source__c":"C1849523; MONDO:0009942; ORPHA:3003","Xref__c":"OMIM:265880"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719258003","Source__c":"C1849523; MONDO:0009942","Xref__c":"719258003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=337844","Source__c":"C1849523","Xref__c":"MEDGEN:337844"},{"URL__c":"https://www.orpha.net/en/disease/detail/3003","Source__c":"C1849523; MONDO:0009942; ORPHA:3003","Xref__c":"ORPHA:3003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536251","Source__c":"MONDO:0009942","Xref__c":"C536251"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1849523","Source__c":"C1849523","Xref__c":"C1849523"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009942","Source__c":"GARD:0004610","Xref__c":"MONDO:0009942"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced inferior to superior extent of the thorax.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010306","HPO_Synonym__c":"Shorter than typical length between neck and abdomen","HPO_Name__c":"Short thorax","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011867","HPO_Synonym__c":"Abnormality of the wing of the ilium","HPO_Name__c":"Abnormal iliac wing morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100748","HPO_Name__c":"Muscular edema","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distention of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003270","HPO_Synonym__c":"Abdominal bloating; Abdominal distension; Abdominal swelling; Belly bloating; Bloating; Distended abdomen","HPO_Name__c":"Abdominal distention","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment 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:0003175","HPO_Synonym__c":"Hypoplastic ischial bones; Hypoplastic ischii; Hypoplastic ischium","HPO_Name__c":"Hypoplastic ischia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Edema in the region of the eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100540","HPO_Synonym__c":"Edema of the eyelids; Eyelid edema; Fullness of eyelids; Puffy eyelids; Puffy lids; Swelling of eyelids","HPO_Name__c":"Palpebral edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased bone density of the skull base without significant changes in bony contour.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002694","HPO_Synonym__c":"Dense bone of skull base; Hyperossification of skull base; Hyperostosis of skull base; Marked sclerosis of skull base; Sclerosis of cranial base; Sclerosis of the skull base; Sclerotic skull base","HPO_Name__c":"Sclerosis of skull base","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3003","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"}},{"Provided_By__c":"ORPHA:3003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000888","HPO_Synonym__c":"Horizontal ribs","HPO_Name__c":"Horizontal ribs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3003","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:3003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A developmental defect characterized by lack of development of the pubis bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008817","HPO_Synonym__c":"Absent pubic bones; Aplastic pubic bones","HPO_Name__c":"Aplastic pubic bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Excessive growth of the craniofacial bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004493","HPO_Synonym__c":"Excessive bone growth of the skull and face; Hyperostosis of craniofacial bones; Increased ossification of craniofacial bones","HPO_Name__c":"Craniofacial hyperostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"One or more abnormally short long bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003026","HPO_Synonym__c":"Long bone shortening; Short long bone; Short tubular bones; shortened long tubular bones","HPO_Name__c":"Short long bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased ossification of the vertebral bodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100856","HPO_Name__c":"Poorly ossified vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000457","HPO_Synonym__c":"Depressed dorsum of nose; Depressed nasal dorsum; Flat dorsum of nose; Flat nasal dorsum; Flat nose; Recessed dorsum of nose; Recessed nasal dorsum; Recessed nasal ridge; Retruded dorsum of nose; Retruded nasal dorsum; Retruded nasal ridge","HPO_Name__c":"Depressed nasal ridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the outline, configuration, or contour of the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011338","HPO_Synonym__c":"Abnormality of mouth shape; Anomaly of mouth shape","HPO_Name__c":"Abnormality of mouth shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the iliac bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100866","HPO_Synonym__c":"Short pelvis bones","HPO_Name__c":"Short iliac bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of ossification of the sacrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030290","HPO_Synonym__c":"Absence of sacrum ossification","HPO_Name__c":"Unossified sacrum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000465","HPO_Synonym__c":"Neck webbing; Pterygium colli; Webbed neck","HPO_Name__c":"Webbed neck","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100625","HPO_Synonym__c":"Wide rib cage; Wide thorax","HPO_Name__c":"Enlarged thorax","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040194","HPO_Synonym__c":"Increased head circumference","HPO_Name__c":"Increased head circumference","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012790","HPO_Synonym__c":"Abnormal intramembranous bone ossification","HPO_Name__c":"Abnormal intramembranous ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of abnormally small extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002983","HPO_Synonym__c":"Smaller or shorter than typical limbs","HPO_Name__c":"Micromelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["camera syndrome"]}