{"Name":"Pseudoleprechaunism syndrome, Patterson type","DiseaseID__c":"GARD:0004259","id":4259,"encodedName":"pseudoleprechaunism-syndrome-patterson-type","IsDeleted":false,"Disease_Name_Full__c":"Pseudoleprechaunism syndrome, Patterson type","Xref_IDs__c":"C1868546; C536310; MEDGEN:358350; MONDO:0008211; OMIM:169170; ORPHA:2976","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":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008211","Disease_Description__c":"Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.","GARD_Name__c":"Pseudoleprechaunism syndrome, Patterson type","GARD_Synonym__c":"patterson pseudoleprechaunism syndrome; patterson syndrome; pseudoleprechaunism syndrome patterson type","Curated_Disease_Description_Source__c":"MONDO:0008211","Curated_Disease_Description__c":"Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.","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:2976","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008211","ORPHANET_ID__c":"ORPHA:2976","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de pseudoleprechaunismo tipo patterson","Spanish_Description_Source__c":"ORPHA:2976","Spanish_Description__c":"El síndrome de pseudoleprechaunismo, tipo Patterson, es un trastorno de las glándulas suprarrenales, genético y poco frecuente, caracterizado por hiperpigmentación bronceada congénita, laxitud de los tejidos blandos de manos y pies, desproporción corporal (que comprende manos, pies, nariz y orejas grandes), hirsutismo y discapacidad intelectual grave. Además, los afectados presentan hipercortisolismo, características cushingoides, adrenarquia prematura y diabetes mellitus, así como malformaciones esqueléticas (no presentes al nacimiento y que aparecen con la edad). No se han descrito nuevos casos en la literatura desde 1981.","Spanish_Disease_Name__c":"síndrome de pseudoleprechaunismo tipo patterson","Spanish_GARD_Synonym__c":"síndrome de patterson; síndrome de pseudo leprechaunismo de patterson","Category_Linearization__c":"ORPHA:97978","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":"Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.","Curated_Disease_Description_Source__c":"MONDO:0008211","GARD_Synonym__c":"patterson pseudoleprechaunism syndrome; patterson syndrome; pseudoleprechaunism syndrome patterson type","Name":"Pseudoleprechaunism syndrome, Patterson type","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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2976"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2976"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=358350","Source__c":"C1868546","Xref__c":"MEDGEN:358350"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536310","Source__c":"MONDO:0008211","Xref__c":"C536310"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1868546","Source__c":"C1868546","Xref__c":"C1868546"},{"URL__c":"https://www.omim.org/entry/169170","Source__c":"C1868546; MONDO:0008211; ORPHA:2976","Xref__c":"OMIM:169170"},{"URL__c":"https://www.orpha.net/en/disease/detail/2976","Source__c":"C1868546; MONDO:0008211; ORPHA:2976","Xref__c":"ORPHA:2976"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771262009","Source__c":"C1868546","Xref__c":"771262009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008211","Source__c":"GARD:0004259","Xref__c":"MONDO:0008211"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The legs angle inward, such that the knees are close together and the ankles far apart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002857","HPO_Synonym__c":"Genu valga; Genu valgus; Genua valga; Knee joint valgus deformity; Knock knees","HPO_Name__c":"Genu valgum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of one or more epiphyses of a limb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006505","HPO_Synonym__c":"Abnormal shape of end part of limb bones; Abnormality involving the epiphyses of the limbs; Abnormality of limb epiphysis morphology","HPO_Name__c":"Abnormal limb epiphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010864","HPO_Synonym__c":"Early and severe mental retardation; Intellectual disability, severe; Mental retardation, severe; Severe mental retardation","HPO_Name__c":"Severe intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000400","HPO_Synonym__c":"Large ears; Large pinnae","HPO_Name__c":"Macrotia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A deviation from normal size of the placenta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012767","HPO_Name__c":"Abnormal placental size","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001176","HPO_Synonym__c":"Disproportionately large hands; large hand; Large hands","HPO_Name__c":"Large hands","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Delayed maturation and calcification of the pubic bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008788","HPO_Synonym__c":"Absent pubic ossification in infancy","HPO_Name__c":"Delayed pubic bone ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Onset of adrenarche at an earlier age than usual.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012412","HPO_Name__c":"Premature adrenarche","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased back to front length of the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001833","HPO_Synonym__c":"Disproportionately large feet; large feet; long feet; Long foot","HPO_Name__c":"Long foot","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000448","HPO_Synonym__c":"Big nose; Disproportionately large nose; Increased nasal size; Increased size of nose; Large nose; Prominent nose; Pronounced nose","HPO_Name__c":"Prominent nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007574","HPO_Name__c":"Generalized bronze hyperpigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A group of abnormalities characterized by hyperglycemia and glucose intolerance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000819","HPO_Name__c":"Diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002751","HPO_Name__c":"Kyphoscoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001007","HPO_Synonym__c":"Excessive hairiness","HPO_Name__c":"Hirsutism","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loose, wrinkled skin of hands and feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007517","HPO_Synonym__c":"Excessive wrinkled skin of palms and soles; Furrowed palms and soles; Increased wrinkles of palms and soles; Wrinkled palms and soles; Wrinkled skin of hands and feet","HPO_Name__c":"Palmoplantar cutis laxa","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002069","HPO_Synonym__c":"Bilateral convulsive seizures; Generalised tonic-clonic seizure (without specification of onset); Generalized convulsion; Generalized tonic-clonic seizure (without specification of onset); Grand mal; Grand mal seizures; Seizures, tonic-clonic; Tonic-clonic convulsion; Tonic-clonic convulsions","HPO_Name__c":"Bilateral tonic-clonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003180","HPO_Synonym__c":"Acetabular angle flat; Flat acetabular roofs; Flattened acetabular roof; Horizontal acetabulae; Horizontal acetabular roof; Horizontal acetabular roofs","HPO_Name__c":"Flat acetabular roof","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001386","HPO_Synonym__c":"Joint swelling","HPO_Name__c":"Joint swelling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of a mandible condylar process.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:3000077","HPO_Synonym__c":"Abnormality of mandible condylar process","HPO_Name__c":"Abnormal mandible condylar process morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal structure of the odontoid process, which is a part of the C2 or axis vertebra and forms pivot of the structures forming the craniovertebral junction. The odontoid process is also known as the dens of the axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003310","HPO_Synonym__c":"Abnormal odontoid peg; Abnormal odontoid process; Abnormality of the odontoid process","HPO_Name__c":"Abnormal odontoid process morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the ethmoid bone","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0430005","HPO_Synonym__c":"Abnormality of ethmoid bone","HPO_Name__c":"Abnormal ethmoid bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diverticulum (sac or pouch) in the wall of the urinary bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000015","HPO_Synonym__c":"Bladder diverticula","HPO_Name__c":"Bladder diverticulum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030348","HPO_Synonym__c":"Hyperandrogenemia; Increased circulating androgen level","HPO_Name__c":"Increased circulating androgen concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased density of metaphyseal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004979","HPO_Synonym__c":"Increased bone density in wide portion of long bone; Sclerotic metaphyses","HPO_Name__c":"Metaphyseal sclerosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0430028","HPO_Synonym__c":"Big maxilla; Big upper jaw; Hyperplasia of upper jaw; Increased size of maxilla; Increased size of upper jaw; Large maxilla; Large upper jaw; Maxillary excess; Maxillary hyperplasia; Maxillary macrognathia; Maxillary prominence; Prominent maxilla; Prominent upper jaw; Upper jaw bone excess; Upper jaw excess","HPO_Name__c":"Hyperplasia of the maxilla","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002750","HPO_Synonym__c":"Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation","HPO_Name__c":"Delayed skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010819","HPO_Synonym__c":"Astatic seizure; Astatic seizures; Atonic seizures; Drop attacks; Drop seizures; Hypotonic seizure","HPO_Name__c":"Atonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2976","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of an abnormally thick calvaria.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002684","HPO_Synonym__c":"Calvarial thickening; Calvarium thickened; Increased calvarial thickness; Increased thickness of calvaria; Increased thickness of calvarium; Increased thickness of cranial vault; Increased thickness of skull cap; Thick calvaria; Thick calvarium; Thickened calvarium; Thickened cranial vault; Thickened cranium; Thickened skull cap; Thickening of the calvaria","HPO_Name__c":"Thickened calvaria","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Pediatrics"]},"synonyms":["patterson pseudoleprechaunism syndrome"," patterson syndrome"," pseudoleprechaunism syndrome patterson type"]}