{"Name":"Achondrogenesis","DiseaseID__c":"GARD:0002882","id":2882,"encodedName":"achondrogenesis","IsDeleted":false,"Disease_Name_Full__c":"Achondrogenesis","Xref_IDs__c":"2391001; C0001079; C579878; C84527; DOID:0080043; MEDGEN:84; MONDO:0019648; OMIMPS:200600; ORPHA:932; Q77.0","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019648","Disease_Description__c":"A rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.","GARD_Name__c":"Achondrogenesis","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"GARD:0002882","Curated_Disease_Description__c":"Achondrogenesis is a group of severe disorders that affect cartilage and bone development. These conditions are characterized by skeletal abnormalities that cause serious health problems. As a result, most infants with achondrogenesis die before birth or soon after, often due to respiratory failure.  Researchers have described three main types of achondrogenesis: type 1A, type 1B, and type 2. While these types differ in their genetic causes and inheritance patterns, they often have overlapping signs and symptoms. Genetic testing and medical imaging are often needed to tell them apart.  All forms of achondrogenesis feature short arms and legs, a narrow chest, and underdeveloped lungs. Infants with achondrogenesis type 1A, which is also called TRIP11-related achondrogenesis, typically have ribs that fracture easily. Bone formation (ossification) is also severely reduced in the skull and spine. Infants with achondrogenesis type 1B, which is also called SLC26A2-related achondrogenesis, often have short fingers and toes and feet that may turn inward and upward (clubfeet). Infants with achondrogenesis type 1B may also have a sac (pouch) formed from the inner lining of the abdominal cavity that pushes through a hole in the abdominal wall around the belly-button (umbilical hernia) or near the groin (inguinal hernia). The ossification of the spine and pelvis may be severely reduced in infants with achondrogenesis type 2, which is also called COL2A1-related achondrogenesis. The distinctive facial features seen in infants with achondrogenesis type 2 include a prominent forehead, a small chin, and, in some cases, an opening in the roof of the mouth (cleft palate).  Achondrogenesis type 2 and a similar skeletal disorder called hypochondrogenesis were once thought to be distinct conditions. However, because these conditions have overlapping features and a shared genetic cause, they are now considered to be part of the same disease spectrum.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:932","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019648","ORPHANET_ID__c":"ORPHA:932","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Acondrogénesis","Spanish_Description_Source__c":"ORPHA:932","Spanish_Description__c":"Es un grupo poco frecuente de displasias esqueléticas letales caracterizadas por una deficiencia de la osificación endocondral que conduce a enanismo con micromelia extrema, tórax pequeño, abdomen prominente, anasarca y polihidramnios. Existen tres tipos de acondrogénesis que difieren clínica, radiológica, histológica y genéticamente: acondrogénesis tipo 1a, tipo 1b y tipo 2.","Spanish_Disease_Name__c":"acondrogénesis","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":"Achondrogenesis is a group of severe disorders that affect cartilage and bone development. These conditions are characterized by skeletal abnormalities that cause serious health problems. As a result, most infants with achondrogenesis die before birth or soon after, often due to respiratory failure.  Researchers have described three main types of achondrogenesis: type 1A, type 1B, and type 2. While these types differ in their genetic causes and inheritance patterns, they often have overlapping signs and symptoms. Genetic testing and medical imaging are often needed to tell them apart.  All forms of achondrogenesis feature short arms and legs, a narrow chest, and underdeveloped lungs. Infants with achondrogenesis type 1A, which is also called TRIP11-related achondrogenesis, typically have ribs that fracture easily. Bone formation (ossification) is also severely reduced in the skull and spine. Infants with achondrogenesis type 1B, which is also called SLC26A2-related achondrogenesis, often have short fingers and toes and feet that may turn inward and upward (clubfeet). Infants with achondrogenesis type 1B may also have a sac (pouch) formed from the inner lining of the abdominal cavity that pushes through a hole in the abdominal wall around the belly-button (umbilical hernia) or near the groin (inguinal hernia). The ossification of the spine and pelvis may be severely reduced in infants with achondrogenesis type 2, which is also called COL2A1-related achondrogenesis. The distinctive facial features seen in infants with achondrogenesis type 2 include a prominent forehead, a small chin, and, in some cases, an opening in the roof of the mouth (cleft palate).  Achondrogenesis type 2 and a similar skeletal disorder called hypochondrogenesis were once thought to be distinct conditions. However, because these conditions have overlapping features and a shared genetic cause, they are now considered to be part of the same disease spectrum.","Curated_Disease_Description_Source__c":"GARD:0002882","Name":"Achondrogenesis","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"},{"Account_Name__c":"European Reference Network on Bone Disorders","Website__c":"https://ernbond.eu/"}],"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:932"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:932"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0001079"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK540447","Source__c":"Gene Review","Xref__c":"NBK540447"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080043","Source__c":"MONDO:0019648","Xref__c":"DOID:0080043"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q77.0","Source__c":"MONDO:0019648","Xref__c":"Q77.0"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=2391001","Source__c":"C0001079; MONDO:0019648","Xref__c":"2391001"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84527","Source__c":"C0001079; MONDO:0019648","Xref__c":"C84527"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C579878","Source__c":"MONDO:0019648","Xref__c":"C579878"},{"URL__c":"https://www.orpha.net/en/disease/detail/932","Source__c":"C0001079; MONDO:0019648; ORPHA:932","Xref__c":"ORPHA:932"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0001079","Source__c":"C0001079","Xref__c":"C0001079"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS200600","Source__c":"MONDO:0019648","Xref__c":"OMIMPS:200600"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=84","Source__c":"C0001079","Xref__c":"MEDGEN:84"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019648","Source__c":"GARD:0002882","Xref__c":"MONDO:0019648"},{"URL__c":"https://medlineplus.gov/genetics/condition/achondrogenesis","Source__c":"GARD:0002882","Xref__c":"https://medlineplus.gov/genetics/condition/achondrogenesis"}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:932","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003336","HPO_Name__c":"Abnormal enchondral ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:932","HPO_Frequency__c":"Very frequent (80-99%)","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:932","HPO_Frequency__c":"Very frequent (80-99%)","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:932","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000343","HPO_Synonym__c":"Elongated philtrum; Increased height of philtrum; Increased length of philtrum; Increased vertical dimension of philtrum; Vertical hyperplasia of philtrum","HPO_Name__c":"Long philtrum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:932","HPO_Frequency__c":"Very frequent (80-99%)","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:932","HPO_Frequency__c":"Very frequent (80-99%)","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:932","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004348","HPO_Synonym__c":"Abnormality of bone mineralisation and ossification","HPO_Name__c":"Abnormality of bone mineral density","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:932","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003196","HPO_Synonym__c":"Decreased length of nose; Hypoplastic nose; Nasal hypoplasia; Short nose; Shortened nose","HPO_Name__c":"Short nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:932","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cystic lymphatic lesion of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000476","HPO_Synonym__c":"Cystic hygroma of the neck","HPO_Name__c":"Cystic hygroma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:932","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001789","HPO_Name__c":"Hydrops fetalis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:932","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A general term describing features characterized by abnormal development of bones and connective tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002652","HPO_Name__c":"Skeletal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:932","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000474","HPO_Synonym__c":"Excess nuchal skin; Increased nuchal fold; Increased nuchal fold thickness; Thick nuchal fold; Thickened nuchal skin; Thickened skin folds of neck; Thickened skin over the neck","HPO_Name__c":"Thickened nuchal skin fold","HPO_Feature_Type__c":"Imaging_Ultrasound_Fetal"}},{"Provided_By__c":"ORPHA:932","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002007","HPO_Synonym__c":"Frontal protuberance; Skull bossing","HPO_Name__c":"Frontal bossing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:932","HPO_Frequency__c":"Very frequent (80-99%)","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:932","HPO_Frequency__c":"Very frequent (80-99%)","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:932","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart and blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030680","HPO_Synonym__c":"Abnormality of cardiovascular system morphology; Cardiovascular malformations","HPO_Name__c":"Abnormal cardiovascular system morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:932","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:932","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001537","HPO_Synonym__c":"Umbilical hernias","HPO_Name__c":"Umbilical hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:932","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:932","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006703","HPO_Synonym__c":"Absent/small lungs; Absent/underdeveloped lungs","HPO_Name__c":"Aplasia/Hypoplasia of the lungs","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:932","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:932","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003510","HPO_Synonym__c":"Dwarfism; Proportionate dwarfism; Severe short stature; Short stature, extreme; Short stature, severe","HPO_Name__c":"Severe short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:932","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Protrusion of the contents of the abdominal cavity through the inguinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000023","HPO_Name__c":"Inguinal hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":[""]}