{"Name":"Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome","DiseaseID__c":"GARD:0003347","id":3347,"encodedName":"hypo-and-hypermelanotic-cutaneous-macules-retarded-growth-intellectual-disability-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome","Xref_IDs__c":"733469003; C1835172; C537836; MEDGEN:371988; MONDO:0016574; ORPHA:2435","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016574","Disease_Description__c":"Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978.","GARD_Name__c":"Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome","GARD_Synonym__c":"hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome; hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome; westerhof beemer cormane syndrome; westerhof-beemer-cormane syndrome","Curated_Disease_Description_Source__c":"MONDO:0016574","Curated_Disease_Description__c":"Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:2435","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016574","ORPHANET_ID__c":"ORPHA:2435","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de máculas cutáneas hiper- e hipopigmentadas-retraso del crecimiento-discapacidad intelectual","Spanish_Description_Source__c":"ORPHA:2435","Spanish_Description__c":"El síndrome de máculas cutáneas hiper- e hipopigmentadas-retraso del crecimiento-discapacidad intelectual es un trastorno genético poco frecuente que produce anomalías de la pigmentación de la piel caracterizado por máculas cutáneas congénitas hipo- e hipermelanóticas asociadas, en algunos pacientes, con retraso del crecimiento y discapacidad intelectual. No ha se han descrito nuevos casos en la literatura desde 1978.","Spanish_Disease_Name__c":"síndrome de máculas cutáneas hiper- e hipopigmentadas-retraso del crecimiento-discapacidad intelectual","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:89826","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":"Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978.","Curated_Disease_Description_Source__c":"MONDO:0016574","GARD_Synonym__c":"hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome; hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome; westerhof beemer cormane syndrome; westerhof-beemer-cormane syndrome","Name":"Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disabili","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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2435"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2435"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2435","Source__c":"C1835172; MONDO:0016574; ORPHA:2435","Xref__c":"ORPHA:2435"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=371988","Source__c":"C1835172","Xref__c":"MEDGEN:371988"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1835172","Source__c":"C1835172","Xref__c":"C1835172"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733469003","Source__c":"C1835172; MONDO:0016574","Xref__c":"733469003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537836","Source__c":"MONDO:0016574","Xref__c":"C537836"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016574","Source__c":"GARD:0003347","Xref__c":"MONDO:0016574"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2435","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2435","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012733","HPO_Synonym__c":"Flat, discolored area of skin","HPO_Name__c":"Macule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2435","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the rib.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000772","HPO_Synonym__c":"Abnormality of the ribs; Rib abnormalities; Rib anomalies","HPO_Name__c":"Abnormal rib morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2435","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2435","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007400","HPO_Name__c":"Irregular hyperpigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2435","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":"ORPHA:2435","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001053","HPO_Synonym__c":"Patchy loss of skin color","HPO_Name__c":"Hypopigmented skin patches","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2435","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000995","HPO_Synonym__c":"Beauty mark; Melanocytic naevus; Melanocytic nevi; Nevocellular nevi; Pigmented naevi; Pigmented nevi","HPO_Name__c":"Melanocytic nevus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Dermatology"],"Specialist":["Genetics","Neurology","Dermatology","Neurodevelopmental disabilities","Pediatrics"],"Account":["Dermatology"]},"synonyms":["hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome"," hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome"," westerhof beemer cormane syndrome"," westerhof-beemer-cormane syndrome"]}