Klinische FragestellungAarskog-[Scott-]Syndrom, Differentialdiagnose

NGS +

Gruppe von Erkrankungen, s.a. Aarskog Syndrom (Entwicklungsstörung mit Auffälligkeiten des Gesichts, der Glieder sowie des Genitales, disproportionierter Kleinwuchs mit Akromelie)

• Alias: Aarskog[-Scott] syndrome (FGD1)
• Alias: Dysplasie, fazio-genitale
• Alias: Faciogenital dysplasia with/without attention deficit-hyperactivity disorder
• Alias: Fazio-genito-digitales Syndrom
• Alleic: Pituitary adenoma 3, multiple types, somatic (GNAS)
• Allelic: ACTH-independent macronodular adrenal hyperplasia (GNAS)
• Allelic: Achondroplasia (FGFR3)
• Allelic: Agammaglobulinemia 7, AR (PIK3R1)
• Allelic: Brachydactyly, type B1 (ROR2)
• Allelic: CATSHL [CAmptodactyly, Tall Stature, Hearing Loss] syndrome (FGFR3)
• Allelic: Congenital osteoma cutis (GNAS)
• Allelic: Crouzon syndrome with acanthosis nigricans (FGFR3)
• Allelic: Immunodeficiency 36 (PIK3R1)
• Allelic: LEOPARD syndrome 1 (PTPN11)
• Allelic: LEOPARD syndrome 2 (RAF1)
• Allelic: Langer mesomelic dysplasia (SHOX)
• Allelic: Leri-Weill dyschondrosteosis (SHOX)
• Allelic: McCune-Albright syndrome, somatic, mosaic (GNAS)
• Allelic: Muenke syndrome (FGFR3)
• Allelic: Osseous heteroplasia, progressive (GNAS)
• Allelic: Polyostotic fibrous Dysplasia (GNAS)
• 3-M syndrome 1: Dolichospondylic dysplasia (CUL7)
• Allelic: ACTH-independent macronodular adrenal hyperplasia (GNAS)
• Allelic: McCune-Albright syndrome, somatic, mosaic (GNAS)
• Allelic: Pseudohypoparathyroidism I1, Ib, Ic (GNAS)
• Allelic: Pseudopseudohypoparathyroidism (GNAS)
• Developmental delay, hypotonia, musculoskeletal defects, behavioral abnormalities (SRCAP)
• Floating-Harbor syndrome (SRCAP)
• KBG syndrome (ANKRD11)
• Kabuki syndrome 1 (KMT2D)
• Kabuki syndrome 2 (KDM6A)
• LADD syndrome [LacrimoAuriculoDentoDigital] (FGFR3)
• Noonan syndrome 1 (PTPN11)
• Noonan syndrome 3 (KRAS)
• Noonan syndrome 4 (SOS1)
• Noonan syndrome 5 (RAF1)
• Noonan syndrome 6 (NRAS)
• Noonan syndrome 8 (RIT1)
• Noonan syndrome 9 (SOS2)
• Opitz GBBB syndrome, type I (MID1)
• Osseous heteroplasia, progressive (GNAS)
• Pseudohypoparathyroidism Ia - Ic (GNAS)
• Pseudopseudohypoparathyroidism (GNAS)
• Robinow syndrome, AD 1 (WNT5A)
• Robinow syndrome, AD 2 (DVL1)
• Robinow syndrome, AR (ROR2)
• Robinow syndrome, AR 2 (NXN)
• SADDAN - Severe Achondroplasia, Developmental Delay + Acanthosis Nigricans (FGFR3)
• SHORT syndrome (PIK3R1)
• Short stature, idiopathic familial (SHOX)
• Short stature; Hyperextens. joints/hernia; Ocular depr.; Rieger anom.; Teeths delay: SHORT (PIK3R1)
• Thanatophoric dysplasia, type I + II (FGFR3)