{"Name":"X-linked chondrodysplasia punctata 1","DiseaseID__c":"GARD:0001296","id":1296,"encodedName":"x-linked-chondrodysplasia-punctata-1","IsDeleted":false,"Disease_Name_Full__c":"X-linked chondrodysplasia punctata 1","Xref_IDs__c":"C3669395; MEDGEN:777171; MONDO:0010555; NBK1544; OMIM:302950; ORPHA:79345","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010555","Disease_Description__c":"Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones.","GARD_Name__c":"X-linked chondrodysplasia punctata 1","GARD_Synonym__c":"arse x-linked chondrodysplasia punctata; brachytelephalangic chondrodysplasia punctata; cdpx1; chondrodysplasia punctata, brachytelephalangic; chondrodysplasia punctata, x-linked recessive; chondrodysplasia punctata, x-linked recessive, x-linked recessive; x-linked chondrodysplasia punctata caused by mutation in arse","Curated_Disease_Description_Source__c":"GARD:0001296","Curated_Disease_Description__c":"X-linked chondrodysplasia punctata 1 is a disorder of cartilage and bone development that occurs almost exclusively in males. Chondrodysplasia punctata is an abnormality that appears on x-rays as spots (stippling) near the ends of bones and in cartilage. In most infants with X-linked chondrodysplasia punctata 1, this stippling is seen in bones of the ankles, toes, and fingers; however, it can also appear in other bones. The stippling generally disappears in early childhood. Other characteristic features of X-linked chondrodysplasia punctata 1 include short stature and unusually short fingertips and ends of the toes. This condition is also associated with distinctive facial features, particularly a flattened-appearing nose with crescent-shaped nostrils and a flat nasal bridge. People with X-linked chondrodysplasia punctata 1 typically have normal intelligence and a normal life expectancy. However, some affected individuals have had serious or life-threatening complications including abnormal thickening (stenosis) of the cartilage that makes up the airways, which restricts breathing. Also, abnormalities of spinal bones in the neck can lead to pinching (compression) of the spinal cord, which can cause pain, numbness, and weakness. Other, less common features of X-linked chondrodysplasia punctata 1 include delayed development, hearing loss, vision abnormalities, and heart defects.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:79345","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010555","ORPHANET_ID__c":"ORPHA:79345","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Condrodisplasia punctata braquitelefalángica","Spanish_Description_Source__c":"ORPHA:79345","Spanish_Description__c":"La condrodisplasia punctata braquitelefalángica (BCDP, por sus siglas en inglés) es una forma de condrodisplasia punctata no rizomélica, una displasia ósea primaria, caracterizada por hipoplasia de las falanges distales de los dedos, hipoplasia nasal, calcificaciones punteadas en las epífisis óseas que aparecen en el primer año de vida, así como leve acortamiento no rizomélico de huesos largos.","Spanish_Disease_Name__c":"condrodisplasia punctata braquitelefalángica","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":"X-linked chondrodysplasia punctata 1 is a disorder of cartilage and bone development that occurs almost exclusively in males. Chondrodysplasia punctata is an abnormality that appears on x-rays as spots (stippling) near the ends of bones and in cartilage. In most infants with X-linked chondrodysplasia punctata 1, this stippling is seen in bones of the ankles, toes, and fingers; however, it can also appear in other bones. The stippling generally disappears in early childhood. Other characteristic features of X-linked chondrodysplasia punctata 1 include short stature and unusually short fingertips and ends of the toes. This condition is also associated with distinctive facial features, particularly a flattened-appearing nose with crescent-shaped nostrils and a flat nasal bridge. People with X-linked chondrodysplasia punctata 1 typically have normal intelligence and a normal life expectancy. However, some affected individuals have had serious or life-threatening complications including abnormal thickening (stenosis) of the cartilage that makes up the airways, which restricts breathing. Also, abnormalities of spinal bones in the neck can lead to pinching (compression) of the spinal cord, which can cause pain, numbness, and weakness. Other, less common features of X-linked chondrodysplasia punctata 1 include delayed development, hearing loss, vision abnormalities, and heart defects.","Curated_Disease_Description_Source__c":"GARD:0001296","GARD_Synonym__c":"arse x-linked chondrodysplasia punctata; brachytelephalangic chondrodysplasia punctata; cdpx1; chondrodysplasia punctata, brachytelephalangic; chondrodysplasia punctata, x-linked recessive; chondrodysplasia punctata, x-linked recessive, x-linked recessive; x-linked chondrodysplasia punctata caused by mutation in arse","Name":"X-linked chondrodysplasia punctata 1","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The MAGIC Foundation","Website__c":"https://www.magicfoundation.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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic 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:79345"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:79345"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1844853"},{"Type__c":"GTR","Curie__c":"MEDGEN:C3669395"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001296","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1544","Source__c":"Gene Review","Xref__c":"NBK1544"},{"URL__c":"https://www.omim.org/entry/302950","Source__c":"C3669395; MONDO:0010555; ORPHA:79345","Xref__c":"OMIM:302950"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=777171","Source__c":"C3669395","Xref__c":"MEDGEN:777171"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3669395","Source__c":"C3669395","Xref__c":"C3669395"},{"URL__c":"https://www.orpha.net/en/disease/detail/79345","Source__c":"C3669395; MONDO:0010555","Xref__c":"ORPHA:79345"},{"URL__c":"https://medlineplus.gov/genetics/condition/x-linked-chondrodysplasia-punctata-1","Source__c":"GARD:0001296","Xref__c":"https://medlineplus.gov/genetics/condition/x-linked-chondrodysplasia-punctata-1"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010555","Source__c":"GARD:0001296","Xref__c":"MONDO:0010555"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ARSL","GHR_URL__c":"https://medlineplus.gov/genetics/gene/arsl","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004415","HPO_Synonym__c":"Narrowing of lung artery","HPO_Name__c":"Pulmonary artery stenosis","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004887","HPO_Synonym__c":"Respiratory distress necessitating mechanical ventilation; Respiratory distress requiring endotracheal intubation; Respiratory distress requiring mechanical ventilation","HPO_Name__c":"Respiratory failure requiring assisted ventilation","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002777","HPO_Synonym__c":"Narrowing of windpipe","HPO_Name__c":"Tracheal stenosis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Occasional (5-29%)","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:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced ability to pass air through the nasal cavity often leading to mouth breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001742","HPO_Synonym__c":"Blockage of nose; Nasal blockage; Nasal obstruction; Obstruction of nose; Stuffy nose","HPO_Name__c":"Nasal congestion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A kind of short stature in which different regions of the body are shortened to a comparable extent.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003508","HPO_Synonym__c":"Proportionate small stature; Short stature, proportionate","HPO_Name__c":"Proportionate short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010880","HPO_Name__c":"Increased nuchal translucency","HPO_Feature_Type__c":"Imaging_Ultrasound_Fetal"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000919","HPO_Synonym__c":"Costochondral juctions abnormal","HPO_Name__c":"Abnormality of the costochondral junction","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010655","HPO_Synonym__c":"Epiphyseal punctate calcifications; Speckled calcifications in end part of bone; Stippled epiphyses; Stippling of the epiphyses","HPO_Name__c":"Epiphyseal stippling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001629","HPO_Synonym__c":"Hole in heart wall separating two lower heart chambers; Ventricular septal defects; Ventriculoseptal defect; VSD","HPO_Name__c":"Ventricular septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009882","HPO_Synonym__c":"Brachytelophalangy; Distal phalangeal hypoplasia; Hypoplasia of the distal phalanges; Hypoplasia of the distal phalanges of the hand; Hypoplastic distal phalanges; Hypoplastic terminal phalanges; Short distal phalanges; Short outermost finger bone; Terminal phalangeal hypoplasia of hand","HPO_Name__c":"Short distal phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012379","HPO_Name__c":"Abnormal circulating enzyme concentration or activity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003467","HPO_Name__c":"Atlantoaxial instability","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003316","HPO_Synonym__c":"Anterior rachischisis; Butterfly vertebrae; Sagittal clefting of vertebrae","HPO_Name__c":"Butterfly vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002341","HPO_Synonym__c":"Cervical cord compression myelopathy","HPO_Name__c":"Cervical cord compression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the anterior nasal spine of maxilla.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010666","HPO_Synonym__c":"Decreased projection of anterior nasal spine; Decreased size of anterior nasal spine; Small anterior nasal spine; Underdevelopment of anterior nasal spine","HPO_Name__c":"Hypoplasia of the anterior nasal spine","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000327","HPO_Synonym__c":"Decreased size of maxilla; Decreased size of upper jaw; Hypoplasia of upper jaw bones; Hypoplastic maxillary bones; Maxillary deficiency; Maxillary hypoplasia; Maxillary micrognathia; Maxillary retrognathia; Maxillary retrusion; Micromaxilla; Small maxilla; Small upper jaw; Small upper jaw bones; Upper jaw deficiency; Upper jaw retrusion","HPO_Name__c":"Hypoplasia of the maxilla","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000925","HPO_Synonym__c":"Abnormal spine; Abnormal vertebral column; Abnormality of the spine; Abnormality of the vertebral column","HPO_Name__c":"Abnormality of the vertebral column","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increase in bulk of the ala nasi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009928","HPO_Synonym__c":"Ala nasi, thick; Thickening of the alae nasi","HPO_Name__c":"Thick nasal alae","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increase in width of the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000455","HPO_Synonym__c":"Broad nasal tip; Broad tip of nose; Broad, upturned nose; Increased breadth of nasal tip; Increased breadth of tip of nose; Increased width of nasal tip; Increased width of tip of nose; Nasal tip, broad; Nasal tip, wide; Wide tip of nose","HPO_Name__c":"Broad nasal tip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal lack of stability of the cervical spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010646","HPO_Name__c":"Cervical spine instability","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002020","HPO_Synonym__c":"Acid reflux; Acid reflux disease; Gastro-esophageal reflux; Gastroesophageal reflux disease; GERD; GORD; Heartburn","HPO_Name__c":"Gastroesophageal reflux","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002871","HPO_Synonym__c":"Central apnoea","HPO_Name__c":"Central apnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A partial dislocation of the atlantoaxial joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003320","HPO_Name__c":"C1-C2 subluxation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Calcification (abnormal deposits of calcium) in the tracheal tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002787","HPO_Synonym__c":"Calcification of the trachea; Tracheal calcifications; Tracheal ectopic calcification","HPO_Name__c":"Tracheal calcification","Feature_System__c":"Musculoskeletal System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004695","HPO_Name__c":"Calcaneal epiphyseal stippling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008434","HPO_Synonym__c":"Cervical vertebrae hypoplasia; Underdeveloped cervical vertebrae","HPO_Name__c":"Hypoplastic cervical vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001857","HPO_Synonym__c":"Hypoplastic distal phalanges of feet; Short outermost bone of toe","HPO_Name__c":"Short distal phalanx of toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Slow or limited growth after birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008897","HPO_Synonym__c":"Growth delay as children; Growth retardation as children; Postnatal growth deceleration; Postnatal growth deficiency; Postnatal growth failure","HPO_Name__c":"Postnatal growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001643","HPO_Synonym__c":"Ductus arteriosus; Patent ductus Botalli; PDA; Persistent arterial duct; Persistent ductus arteriosus","HPO_Name__c":"Patent ductus arteriosus","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal narrowing of the spinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003416","HPO_Synonym__c":"Narrow spinal canal; Spinal stenosis","HPO_Name__c":"Spinal canal stenosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010255","HPO_Synonym__c":"Speckled calcifications in the end part of the outermost hand bones","HPO_Name__c":"Stippling of the epiphyses of the distal phalanges of the hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","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:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002099","HPO_Synonym__c":"Asthma; Bronchial asthma","HPO_Name__c":"Asthma","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007766","HPO_Name__c":"Optic disc hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010171","HPO_Synonym__c":"Speckled calcifications in long toe bones; Stippling of the epiphyses of the toes","HPO_Name__c":"Epiphyseal stippling of toe phalanges","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025426","HPO_Synonym__c":"Abnormality of the bronchi","HPO_Name__c":"Abnormal bronchus morphology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced distance from the anterior border of the naris to the subnasale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002000","HPO_Synonym__c":"Columella, short; Decreased length of columella","HPO_Name__c":"Short columella","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the hyoid bone (hyoid), a small U-shaped (horseshoe-shaped) solitary bone, situated in the midline of the neck anteriorly at the base of the mandible and posteriorly at the fourth cervical vertebra.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:3000052","HPO_Synonym__c":"Abnormality of hyoid bone","HPO_Name__c":"Abnormal hyoid bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of punctiform calcification of the bone of the vertebral bodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008420","HPO_Name__c":"Punctate vertebral calcifications","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009107","HPO_Name__c":"Abnormal ossification involving the femoral head and neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Respiratory difficulty as newborn.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002643","HPO_Synonym__c":"Infantile respiratory distress; Neonatal respiratory distress; Newborn respiratory distress; Respiratory distress, neonatal","HPO_Name__c":"Neonatal respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000410","HPO_Synonym__c":"Hearing loss, mixed; Mixed hearing impairment; Mixed hearing loss","HPO_Name__c":"Mixed hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Occasional (5-29%)","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:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal narrowing of the cervical spinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008445","HPO_Synonym__c":"Narrow cervical spinal canal","HPO_Name__c":"Cervical spinal canal stenosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","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:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Calcification (abnormal deposits of calcium) in the laryngeal tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008754","HPO_Synonym__c":"Laryngeal calcifications","HPO_Name__c":"Laryngeal calcification","Feature_System__c":"Musculoskeletal System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Very rapid breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002789","HPO_Synonym__c":"Increased respiratory rate or depth of breathing; Polypnea","HPO_Name__c":"Tachypnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Small, underdeveloped vertebral bodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008417","HPO_Synonym__c":"Underdeveloped vertebrae","HPO_Name__c":"Vertebral hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000609","HPO_Synonym__c":"Hypoplastic optic nerves; Underdeveloped optic nerves","HPO_Name__c":"Optic nerve hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dysplasia of the cervical vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008469","HPO_Name__c":"Cervical vertebral dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002947","HPO_Synonym__c":"Rounded neck","HPO_Name__c":"Cervical kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79345","HPO_Frequency__c":"Uncommon (<1-4%)","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["arse x-linked chondrodysplasia punctata"," brachytelephalangic chondrodysplasia punctata"," cdpx1"," chondrodysplasia punctata, brachytelephalangic"," chondrodysplasia punctata, x-linked recessive"," chondrodysplasia punctata, x-linked recessive, x-linked recessive"," x-linked chondrodysplasia punctata caused by mutation in arse"]}