Pectus excavatum Sloping shoulders Dysmorphic facies Palmar Delayed bone age FTT creases contractures Almost all stature syndrome AR None Premature Kyphoscoliosis N N N N N fat lost Cataracts (SPRTN) graying of Clinodactyly carcinoma Sensitivity to scalp hair Pes planus genotoxins muscle mass ↓ Micrognathia Joint contractures Dysmorphic facies Muscle weakness FTT Erythematous Face muscle mass MR Short stature ↓ nodular skin Cardiac JMP, Hypertrophic ± Seizures Recurrent fever AR None lesions insufficiency TG N N ↑ CANDLE Feet pulmonary Basal ganglia Microcytic anemia Panniculitis Arrhythmias syndromes ± Chest calcification ESR ↑ Dry, stiff skin (PSMB8) Long and thick enzymes fingers 1 Palms, soles, orbits, scalp, and periarticular regions AD, autosomal dominant; AN, acanthosis nigricans; AR, autosomal recessive; BM, bone marrow fat; CANDLE, chronic neutrophilic dermatosis with lipodystrophy and elevated temperature; DM, diabetes mellitus; ESR, erythrocyte sedimentation rate ; FTT, failure to thrive; HTN, hypertension; IR, insulin resistance; IUGR, intrauterine growth restriction; JMP, joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy; MAD, Mandibuloacral dysplasia; MDPL, mandibular hypoplasia, deafness, progeroid features, and
syndrome (SPRTN) AR Almost all fat lost None Palmar creases Premature graying of scalp hair Pectus excavatum Sloping shoulders Delayed bone age contractures Kyphoscoliosis Clinodactyly Pes planus ↓ muscle mass Micrognathia N N N N carcinoma N Dysmorphic facies FTT stature Cataracts Sensitivity to genotoxins JMP, CANDLE syndromes (PSMB8) AR Face Feet ± Chest None Erythematous nodular skin lesions Panniculitis Dry, stiff skin Joint contractures Muscle weakness ↓ muscle mass Hypertrophic pulmonary Long and thick fingers Cardiac insufficiency Arrhythmias ↑ TG N MR ± Seizures Basal ganglia calcification enzymes N Dysmorphic facies FTT Short stature Recurrent fever Microcytic anemia ↑ ESR 1 Palms, soles, orbits, scalp, and periarticular regions AD, autosomal dominant; AN, acanthosis nigricans; AR, autosomal recessive; BM, bone marrow fat; CANDLE, chronic neutrophilic dermatosis with lipodystrophy and elevated temperature; DM, diabetes mellitus; ESR, erythrocyte sedimentation rate ; FTT, failure to thrive; HTN, hypertension; IR, insulin resistance; IUGR, intrauterine growth restriction; JMP, joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy; MAD, Mandibuloacral dysplasia; MDPL, mandibular hypoplasia, deafness, progeroid features, and
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