{"Name":"Cutis laxa, autosomal recessive, type 1B","DiseaseID__c":"GARD:0015804","id":15804,"encodedName":"cutis-laxa-autosomal-recessive-type-1b","IsDeleted":false,"Disease_Name_Full__c":"Cutis laxa, autosomal recessive, type 1B","Xref_IDs__c":"C3280798; DOID:0070133; MEDGEN:482428; MONDO:0013754; OMIM:614437","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0013754","Disease_Description__c":"An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.","GARD_Name__c":"Cutis laxa, autosomal recessive, type 1B","GARD_Synonym__c":"arcl1b; cutis laxa, autosomal recessive, type ib","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Autosomal recessive cutis laxa type IB (ARCL1B) is a rare genetic connective tissue disorder. It is characterized by loose skin along with symptoms in other parts of the body. Babies with this disorder may experience fractures during the birth process. They may also have long, thin fingers (arachnodactyly) and flexible joints. Other symptoms include breathing difficulties known as emphysema and cardiopulmonary insufficiency. These cause the lungs and heart to struggle to remove carbon dioxide and supply oxygen to the blood. The condition may also cause fragile blood vessels. These symptoms are all related to changes in the formation of elastic fiber. Elastic fiber is an important component of connective tissue. ARCL1B is caused by mutations in the EFEMP2 gene. As the name suggests, this condition is inherited in an autosomal recessive pattern. This means that two copies of the mutated gene are required to cause the disease.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:614437","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013754","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Autosomal recessive cutis laxa type IB (ARCL1B) is a rare genetic connective tissue disorder. It is characterized by loose skin along with symptoms in other parts of the body. Babies with this disorder may experience fractures during the birth process. They may also have long, thin fingers (arachnodactyly) and flexible joints. Other symptoms include breathing difficulties known as emphysema and cardiopulmonary insufficiency. These cause the lungs and heart to struggle to remove carbon dioxide and supply oxygen to the blood. The condition may also cause fragile blood vessels. These symptoms are all related to changes in the formation of elastic fiber. Elastic fiber is an important component of connective tissue. ARCL1B is caused by mutations in the EFEMP2 gene. As the name suggests, this condition is inherited in an autosomal recessive pattern. This means that two copies of the mutated gene are required to cause the disease.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"arcl1b; cutis laxa, autosomal recessive, type ib","Name":"Cutis laxa, autosomal recessive, type 1B","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Cutis Laxa Internationale","Website__c":"https://www.cutislaxa.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK54467","Source__c":"Gene Review","Xref__c":"NBK54467"},{"URL__c":"https://www.omim.org/entry/614437","Source__c":"C3280798; MONDO:0013754","Xref__c":"OMIM:614437"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3280798","Source__c":"C3280798","Xref__c":"C3280798"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070133","Source__c":"MONDO:0013754","Xref__c":"DOID:0070133"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=482428","Source__c":"C3280798","Xref__c":"MEDGEN:482428"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013754","Source__c":"GARD:0015804","Xref__c":"MONDO:0013754"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"EFEMP2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/efemp2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614437","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":"OMIM:614437","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001297","HPO_Synonym__c":"Cerebral vascular events; Cerebrovascular accident; Stroke","HPO_Name__c":"Stroke","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002092","HPO_Synonym__c":"Increased blood pressure in blood vessels of lungs; Pulmonary artery hypertension","HPO_Name__c":"Pulmonary arterial hypertension","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","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":"OMIM:614437","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002414","HPO_Name__c":"Spina bifida","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","Feature__r":{"HPO_Description__c":"Increased volume and globular shape of the anteroinferior aspect of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000414","HPO_Synonym__c":"Bulbous nose","HPO_Name__c":"Bulbous nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","Feature__r":{"HPO_Description__c":"The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010444","HPO_Synonym__c":"Pulmonary incompetence; Pulmonary valve insufficiency; Pulmonary valve regurgitation; Puolmonary valve insufficiency","HPO_Name__c":"Pulmonic regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminished amniotic fluid volume in pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001562","HPO_Synonym__c":"Low levels of amniotic fluid; Maternal oligohydramnios","HPO_Name__c":"Oligohydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","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":"OMIM:614437","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005180","HPO_Synonym__c":"Tricuspid insufficiency; Tricuspid valve regurgitation","HPO_Name__c":"Tricuspid regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduction in the vertical distance between the upper and lower eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045025","HPO_Synonym__c":"Narrow palpebral fissures; Small opening between the eyelids; Small palpebral fissures","HPO_Name__c":"Narrow palpebral fissure","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004970","HPO_Synonym__c":"Aneurysm of the ascending tubular aorta; Ascending aortic aneurysm; Ascending aortic dilation; Bulging of wall of large artery located above heart; Dilatation of ascending aorta","HPO_Name__c":"Ascending tubular aorta aneurysm","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002097","HPO_Synonym__c":"Pulmonary emphysema","HPO_Name__c":"Emphysema","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","Feature__r":{"HPO_Description__c":"Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010759","HPO_Synonym__c":"Anterior position of the premaxilla; Anterior position of the primary palate bone; Premaxillary bone excess; Prominence of the intermaxillary bone; Prominence of the primary palate bone; Prominent premaxilla","HPO_Name__c":"Prominence of the premaxilla","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal tortuous (i.e., twisted) form of arteries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005116","HPO_Name__c":"Arterial tortuosity","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A defect of the chest wall characterized by a depression of the sternum, giving the chest (\\\"pectus\\\") a caved-in (\\\"excavatum\\\") appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000767","HPO_Synonym__c":"Funnel chest","HPO_Name__c":"Pectus excavatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","Feature__r":{"HPO_Description__c":"An eye that is protruding anterior to the plane of the face to a greater extent than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000520","HPO_Synonym__c":"Anterior bulging of the globe; Anterior bulging of the globe of eye; Bulging eye; Exophthalmos; Eyeballs bulging out; Ocular proptosis; Prominent eyes; Prominent globes; Protruding eyes; Protrusio bulbi","HPO_Name__c":"Proptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Wrinkled, redundant, inelastic and sagging skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000973","HPO_Synonym__c":"Chalazoderma; Cutaneous laxity; Dermatochalasia; Dermatomegaly; Elastolysis; Generalized elastolysis; Hypoelastic skin; Inelastic skin; Lax skin; Loose and inelastic skin; Loose skin; Skin laxity","HPO_Name__c":"Cutis laxa","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","Feature__r":{"HPO_Description__c":"An abnormal widening of the diameter of the pulmonary artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004927","HPO_Name__c":"Pulmonary artery dilatation","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001548","HPO_Synonym__c":"General overgrowth","HPO_Name__c":"Overgrowth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","Feature__r":{"HPO_Description__c":"Forward prominence of the entire forehead, due to protrusion of the frontal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011220","HPO_Synonym__c":"Prominence of frontal region; Prominent forehead; Pronounced forehead; Protruding forehead","HPO_Name__c":"Prominent forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally long and slender fingers (spider fingers).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001166","HPO_Synonym__c":"Long slender fingers; Long, slender fingers; Spider fingers","HPO_Name__c":"Arachnodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000444","HPO_Synonym__c":"Beaked nose; Beaklike protrusion; Convex dorsum of nose; Convex nasal dorsum; Hooked nose; Polly beak nasal deformity","HPO_Name__c":"Convex nasal ridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001382","HPO_Synonym__c":"Double-Jointed; Extensible joints; Flexible joints; Hyperextensible joints; Increased joint mobility; Increased mobility of joints; Joint hyperextensibility; Joint hyperflexibility; Joint hyperlaxity; Joint laxity; Joints move beyond expected range of motion; Lax joints; Loose-jointedness","HPO_Name__c":"Joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040044","HPO_Synonym__c":"Underdeveloped diaphragm","HPO_Name__c":"Hypoplasia of the diaphragm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010648","HPO_Synonym__c":"Translucent skin","HPO_Name__c":"Dermal translucency","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Enlargement of the chamber of the right ventricle, which can be defined echocardiographically as a right ventricular to left ventricular ratio greater than 1:1.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005133","HPO_Synonym__c":"Dilated heart right ventricle","HPO_Name__c":"Right ventricular dilatation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","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":"OMIM:614437","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000218","HPO_Synonym__c":"Elevated palate; High arched palate; High palate; High, arched palate; High-arched palate; Increased palatal height; Palate high-arched; Palate, high-arched","HPO_Name__c":"High palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","Feature__r":{"HPO_Description__c":"The palpebral fissure inclination is more than two standard deviations below the mean.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000494","HPO_Synonym__c":"Antimongoloid eye slant; Antimongoloid slant of palpebral fissures; Antimongoloid slanted palpebral fissures; Down slanting palpebral fissures; Down-slanted palpebral fissures; Down-slanting palpebral fissure; Down-slanting palpebral fissures; Downslanting palpebral fissure; Downslanting palpebral fissures; Downward slanted palpebral fissures; Downward slanting of the opening between the eyelids; Downward slanting palpebral fissures; Downward-slanting palpebral fissures; Palpebral fissures down-slanted","HPO_Name__c":"Downslanted palpebral fissures","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A slower than normal heart rate (in adults, slower than 60 beats per minute).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001662","HPO_Synonym__c":"Brachycardia; Slow heartbeats","HPO_Name__c":"Bradycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature of a long bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006487","HPO_Synonym__c":"Bowed long bones; Bowing of long bones; Bowing of the long bones; Camptomelia; Diaphyseal bowing; Diaphyseal bowing of long bones","HPO_Name__c":"Bowing of the long bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of a hernia of the diaphragm present at birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000776","HPO_Synonym__c":"Diaphragmatic hernia","HPO_Name__c":"Congenital diaphragmatic hernia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004955","HPO_Synonym__c":"Generalized twisted arteries","HPO_Name__c":"Generalized arterial tortuosity","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal twisting of arteries or veins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004948","HPO_Synonym__c":"Twisted blood vessels","HPO_Name__c":"Vascular tortuosity","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002576","HPO_Name__c":"Intussusception","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality in which the mandible is mislocalised posteriorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000278","HPO_Synonym__c":"Lower jaw retrognathia; Lower jaw retrusion; Mandibular retrognathia; Mandibular retrusion; Receding chin; Receding lower jaw; Receding mandible; Retrognathia of lower jaw; Retrusion of lower jaw; Weak chin; Weak jaw","HPO_Name__c":"Retrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Subjective impression of increased softness upon palpation of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000977","HPO_Synonym__c":"Soft skin","HPO_Name__c":"Soft skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the pinna, which is also referred to as the auricle or external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000377","HPO_Synonym__c":"Abnormal form of ears; Abnormally shaped ears; Auricular malformation; Deformed auricles; Deformed ears; Dysplastic ears; Malformation of auricle; Malformed auricles; Malformed ears; Malformed external ears; Minor malformation of the auricles; Poorly defined conchae","HPO_Name__c":"Abnormal pinna morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal localized widening (dilatation) of the aortic root.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002616","HPO_Synonym__c":"Bulge in wall of root of large artery that carries blood away from heart; Enlarged aortic root; Increased aortic root diameter","HPO_Name__c":"Aortic root aneurysm","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100807","HPO_Synonym__c":"Long fingers","HPO_Name__c":"Long fingers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614437","Feature__r":{"HPO_Description__c":"An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004937","HPO_Name__c":"Pulmonary artery aneurysm","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["arcl1b"," cutis laxa, autosomal recessive, type ib"]}