{"Name":"Mandibuloacral dysplasia","DiseaseID__c":"GARD:0011893","id":11893,"encodedName":"mandibuloacral-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Mandibuloacral dysplasia","Xref_IDs__c":"C0432291; DOID:0081127; MEDGEN:98485; MONDO:0016584; OMIMPS:248370; ORPHA:2457","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016584","Disease_Description__c":"Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.","GARD_Name__c":"Mandibuloacral dysplasia","GARD_Synonym__c":"craniomandibular dermatodysostosis; familial mandibuloacral dysplasia; mad; mada; mandibuloacral dysostosis; mandibuloacral dysplasia with lipodystrophy","Curated_Disease_Description_Source__c":"MONDO:0016584","Curated_Disease_Description__c":"Mandibuloacral dysplasia is a condition that causes a variety of abnormalities involving bone development, skin coloring (pigmentation), and fat distribution. People with this condition may grow slowly after birth. Most affected individuals are born with an underdeveloped lower jaw bone (mandible) and small collar bones (clavicles), leading to the characteristic features of a small chin and sloped shoulders. Other bone problems include loss of bone from the tips of the fingers (acroosteolysis), which causes bulbous finger tips; delayed closure of certain skull bones; and joint deformities (contractures). People with mandibuloacral dysplasia can have mottled or patchy skin pigmentation or other skin abnormalities. Some people with this condition have features of premature aging (a condition called progeria), such as thin skin, loss of teeth, loss of hair, and a beaked nose. Some individuals with mandibuloacral dysplasia have metabolic problems, such as diabetes. A common feature of mandibuloacral dysplasia is a lack of fatty tissue under the skin (lipodystrophy) in certain regions of the body. The two types of this disorder, mandibuloacral dysplasia with type A lipodystrophy (MADA) and mandibuloacral dysplasia with type B lipodystrophy (MADB) are distinguished by the pattern of fat distribution throughout the body. Type A is described as partial lipodystrophy; affected individuals have a loss of fatty tissue from the torso and limbs, but it may build up around the neck and shoulders. Type B is a generalized lipodystrophy, with loss of fatty tissue in the face, torso, and limbs. MADA usually begins in adulthood, although children can be affected. MADB begins earlier, often just after birth. Many babies with MADB are born prematurely.","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:2457","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016584","ORPHANET_ID__c":"ORPHA:2457","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia acromandibular","Spanish_Description_Source__c":"ORPHA:2457","Spanish_Description__c":"Es un trastorno óseo genético poco frecuente caracterizado por retraso del crecimiento, anomalías craneofaciales de desarrollo postnatal que incluyen la hipoplasia mandibular, osteólisis acra progresiva, pigmentación cutánea moteada o irregular, atrofia cutánea y lipodistrofia parcial o generalizada.","Spanish_Disease_Name__c":"displasia acromandibular","Spanish_GARD_Synonym__c":"mad","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":"Mandibuloacral dysplasia is a condition that causes a variety of abnormalities involving bone development, skin coloring (pigmentation), and fat distribution. People with this condition may grow slowly after birth. Most affected individuals are born with an underdeveloped lower jaw bone (mandible) and small collar bones (clavicles), leading to the characteristic features of a small chin and sloped shoulders. Other bone problems include loss of bone from the tips of the fingers (acroosteolysis), which causes bulbous finger tips; delayed closure of certain skull bones; and joint deformities (contractures). People with mandibuloacral dysplasia can have mottled or patchy skin pigmentation or other skin abnormalities. Some people with this condition have features of premature aging (a condition called progeria), such as thin skin, loss of teeth, loss of hair, and a beaked nose. Some individuals with mandibuloacral dysplasia have metabolic problems, such as diabetes. A common feature of mandibuloacral dysplasia is a lack of fatty tissue under the skin (lipodystrophy) in certain regions of the body. The two types of this disorder, mandibuloacral dysplasia with type A lipodystrophy (MADA) and mandibuloacral dysplasia with type B lipodystrophy (MADB) are distinguished by the pattern of fat distribution throughout the body. Type A is described as partial lipodystrophy; affected individuals have a loss of fatty tissue from the torso and limbs, but it may build up around the neck and shoulders. Type B is a generalized lipodystrophy, with loss of fatty tissue in the face, torso, and limbs. MADA usually begins in adulthood, although children can be affected. MADB begins earlier, often just after birth. Many babies with MADB are born prematurely.","Curated_Disease_Description_Source__c":"MONDO:0016584","GARD_Synonym__c":"craniomandibular dermatodysostosis; familial mandibuloacral dysplasia; mad; mada; mandibuloacral dysostosis; mandibuloacral dysplasia with lipodystrophy","Name":"Mandibuloacral dysplasia","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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"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":"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":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2457"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2457"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0432291"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/phenotypicSeries/PS248370","Source__c":"MONDO:0016584","Xref__c":"OMIMPS:248370"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98485","Source__c":"C0432291","Xref__c":"MEDGEN:98485"},{"URL__c":"https://www.orpha.net/en/disease/detail/2457","Source__c":"C0432291; MONDO:0016584; ORPHA:2457","Xref__c":"ORPHA:2457"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081127","Source__c":"MONDO:0016584","Xref__c":"DOID:0081127"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0432291","Source__c":"C0432291","Xref__c":"C0432291"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=109419009","Source__c":"C0432291","Xref__c":"109419009"},{"URL__c":"https://medlineplus.gov/genetics/condition/mandibuloacral-dysplasia","Source__c":"GARD:0011893","Xref__c":"https://medlineplus.gov/genetics/condition/mandibuloacral-dysplasia"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016584","Source__c":"GARD:0011893","Xref__c":"MONDO:0016584"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of insulin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000842","HPO_Synonym__c":"Elevated insulin level","HPO_Name__c":"Hyperinsulinemia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000956","HPO_Synonym__c":"Darkened and thickened skin; Keratosis nigricans","HPO_Name__c":"Acanthosis nigricans","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2457","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:2457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the level of triglycerides in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002155","HPO_Synonym__c":"Increased circulating Tg levels; Increased plasma Tg levels; Increased plasma triglycerides; Increased serum triglycerides; Increased triglycerides","HPO_Name__c":"Hypertriglyceridemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced length of the clavicles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000894","HPO_Synonym__c":"Clavicular hypoplasia; Hypoplastic clavicles; Short collarbone; Underdeveloped clavicles","HPO_Name__c":"Short clavicles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001870","HPO_Synonym__c":"Acroosteolysis of distal phalanges of feet","HPO_Name__c":"Acroosteolysis of distal phalanges (feet)","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased prominence or roundness of soft tissues between zygomata and mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000293","HPO_Synonym__c":"Apple cheeks; Big cheeks; Full cheeks; Increased size of cheeks; Large cheeks","HPO_Name__c":"Full cheeks","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diffusely large eye (with megalocornea) without glaucoma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001090","HPO_Synonym__c":"Increased size of eyes; Large eyes; Megalophthalmos","HPO_Name__c":"Abnormally large globe","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009003","HPO_Synonym__c":"Increased fat below the skin in trunk","HPO_Name__c":"Increased subcutaneous truncal adipose tissue","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2457","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":"ORPHA:2457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced density of hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008070","HPO_Synonym__c":"Decreased hair growth; Decreased hair growth on body; Hypotrichosis; Marked hypotrichosis; Sparse hair; Sparse hair since birth","HPO_Name__c":"Sparse hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003635","HPO_Synonym__c":"Loss of fat tissue below the skin in limbs; Loss of subcutaneous adipose tissue from extremities","HPO_Name__c":"Loss of subcutaneous adipose tissue in limbs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000963","HPO_Synonym__c":"Thin skin","HPO_Name__c":"Thin skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030781","HPO_Name__c":"Increased circulating free fatty acid level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000460","HPO_Synonym__c":"Decreased nasal breadth; Decreased nasal width; Narrow nose; Thin nose","HPO_Name__c":"Narrow nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally reduced amount of adipose tissue in the thoracic cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003809","HPO_Name__c":"Reduced intrathoracic adipose tissue","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009839","HPO_Synonym__c":"Acro-osteolysis of distal phalanges; Acroosteolysis of distal phalanges; Osteolytic defects of the outermost finger bone of the hand","HPO_Name__c":"Osteolytic defects of the distal phalanges of the hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of a fingernail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001804","HPO_Synonym__c":"Small fingernail; Underdeveloped fingernail","HPO_Name__c":"Hypoplastic fingernail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A noncongenital process of hair loss, which may progress to partial or complete baldness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001596","HPO_Synonym__c":"Hair loss","HPO_Name__c":"Alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001952","HPO_Synonym__c":"Glucose intolerance","HPO_Name__c":"Glucose intolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000831","HPO_Synonym__c":"Insulin resistant diabetes; Insulin resistant diabetes mellitus; Insulin-resistant diabetes","HPO_Name__c":"Insulin-resistant diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005781","HPO_Name__c":"Contractures of the large joints","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030809","HPO_Name__c":"Abnormal tongue morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Localized loss of fat tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100578","HPO_Synonym__c":"Atrophy of fat; Loss of fat tissue in localized area","HPO_Name__c":"Lipoatrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Changes in alignment of teeth in the dental arch","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000678","HPO_Synonym__c":"Crowded teeth; Dental crowding; Dental overcrowding; Overcrowding of teeth","HPO_Name__c":"Dental crowding","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000270","HPO_Synonym__c":"Broad late closing cranial sutures; Delayed closure of fontanel; Delayed closure of fontanelles; Delayed closure of fontanels; Delayed closure of the fontanelles; Delayed cranial suture closure; Delayed fontanel closure; Delayed fontanelle closure; Late closing fontanelles; Late closure of fontanelle; Late-closing fontanelle; Open sutures","HPO_Name__c":"Delayed cranial suture closure","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the pigmentation of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001000","HPO_Synonym__c":"Abnormal pigmentation; Abnormal skin color; Abnormal skin pigmentation; Abnormality of pigmentation; Abnormality of skin pigmentation; Pigmentary changes; Pigmentary skin changes; Pigmentation anomaly","HPO_Name__c":"Abnormality of skin pigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000855","HPO_Synonym__c":"Body fails to respond to insulin","HPO_Name__c":"Insulin resistance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased amount of subcutaneous fat tissue around the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000468","HPO_Synonym__c":"Increased fat around the neck","HPO_Name__c":"Increased adipose tissue around the neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the amount of intraabdominal fat tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008993","HPO_Name__c":"Increased intraabdominal fat","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011334","HPO_Synonym__c":"Facial shape compression; Facial shape deformation","HPO_Name__c":"Facial shape deformation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000685","HPO_Synonym__c":"Hypoplastic teeth","HPO_Name__c":"Hypoplasia of teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of cholesterol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003124","HPO_Synonym__c":"Elevated serum cholesterol; Elevated total cholesterol; Increased total cholesterol","HPO_Name__c":"Hypercholesterolemia","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Endocrine","Dermatology","Orthopedics","Anterior segment of Eye","Pediatrics"],"Account":["Dermatology"]},"synonyms":["craniomandibular dermatodysostosis"," familial mandibuloacral dysplasia"," mad"," mada"," mandibuloacral dysostosis"," mandibuloacral dysplasia with lipodystrophy"]}