ErkrankungKleinwuchs im Kindesalter, Differentialdiagnose

NGS +

Gruppe heterogener Erkrankungen: Kleinwuchs, optimalerweise definiert im Verhältnis zur genetischen Veranlagung des Individuums wird erkannt, indem die Körpergröße eines Individuums mit der einer großen Population mit ähnlichem genetischen Hintergrund verglichen wird, insbesondere unter Verwendung der mittleren elterlichen Zielgröße

• Alias: Short stature, infantile
• Allelic: Beckwith-Wiedemann syndrome (CDKN1C)
• Allelic: Bladder cancer, somatic (FGFR3)
• Allelic: CATSHL syndrome (FGFR3)
• Allelic: Cervical cancer, somatic (FGFR3)
• Allelic: Colorectal cancer, somatic (FGFR3)
• Allelic: Crouzon syndrome with acanthosis nigricans (FGFR3)
• Allelic: Fibromatosis, gingival, 1 (SOS1)
• Allelic: Hypercholesterolemia, familial, modifier of (GHR)
• Allelic: Increased responsiveness to growth hormone (GHR)
• Allelic: LADD syndrome (FGFR3)
• Allelic: Leri-Weill dyschondrosteosis (SHOX)
• Allelic: Leukemia, juvenile myelomonocytic, somatic (PTPN11)
• Allelic: Metachondromatosis (PTPN11)
• Allelic: Muenke syndrome (FGFR3)
• Allelic: Nevus, epidermal, somatic (FGFR3)
• Allelic: SADDAN (FGFR3)
• Allelic: Spermatocytic seminoma, somatic (FGFR3)
• Allelic: Thanatophoric dysplasia, type I-II (FGFR3)
• -out juvenile myelomonocytic leukemia (CBL)
• 3-M syndrome 1 (CUL7)
• 3-M syndrome 2 (OBSL1)
• 3-M syndrome 3 (CCDC8)
• Aarskog-Scott syndrome (FGD1)
• Achondroplasia (FGFR3)
• Acid-labile subunit, deficiency of (IGFALS)
• Acromesomelic dysplasia, Maroteaux type (NPR2)
• Bloom syndrome (BLM)
• Cardiofaciocutaneous syndrome (BRAF)
• Cardiofaciocutaneous syndrome 2 (KRAS)
• Cardiofaciocutaneous syndrome 3 (MAP3K1)
• Cardiofaciocutaneous syndrome 4 (MAP2K2)
• Cerebrooculofacioskeletal syndrome 1 (ERCC6)
• Cockayne syndrome (ERCC4)
• Cockayne syndrome, type A (ERCC8)
• Cockayne syndrome, type B (ERCC6)
• Coffin-Lowry syndrome (RPS6KA3)
• Cornelia de Lange syndrome 1 (NIPBL)
• Cornelia de Lange syndrome 2 (SMC1A)
• Cornelia de Lange syndrome 3 (SMC3)
• Cornelia de Lange syndrome 4 (RAD21)
• Cornelia de Lange syndrome 5 (HDAC8)
• Costello syndrome (HRAS)
• Crouzon syndrome with acanthosis nigricans (FGFR3)
• Culler-Jones syndrome (GLI2)
• De Sanctis-Cacchione syndrome (ERCC6)
• Encephalopathy, progressive, with amyotrophy + optic atrophy (TBCE)
• Epiphyseal chondrodysplasia, Miura type (NPR2)
• Epiphyseal dysplasia, multiple, 6 (COL9A1)
• Fanconi anemia, complementation group A-L (FANCA-L)
• Fanconi anemia, complementation group D1 (BRCA2)
• Fanconi anemia, complementation group J (BRIP1)
• Fanconi anemia, complementation group N (PALB2)
• Fanconi anemia, complementation group P (SLX4)
• Fanconi anemia, complementation group Q (ERCC4)
• Fanconi anemia, complementation group T (UBE2T)
• Floating-Harbor syndrome (SRCAP)
• Growth hormone deficiency with pituitary anomalies (HESX1)
• Growth hormone deficiency, isolated, type IA, IB, II (GH1)
• Growth hormone deficiency, isolated, type IV (GHRHR)
• Growth hormone insensitivity, partial (GHR)
• Growth retardation with deafness and mental retardation due to IGF1 deficiency (IGF1)
• Holoprosencephaly 9 (GLI2)
• Hypochondroplasia (FGFR3)
• Hypoparathyroidism-retardation-dysmorphism syndrome (TBCE)
• IMAGE syndrome (CDKN1C)
• Insulin-like growth factor I, resistance to (IGF1R)
• Intellectual developmental disorder, XL 19 (RPS6KA3)
• Intellectual developmental disorder, XL, syndromic, 35 (RPL10)
• Intellectual developmental disorder, XL, with isolated growth hormone deficiency (SOX3)
• Isolated growth hormone deficiency due to defect in GHRF (GHRH) 1
• Isolated growth hormone deficiency, type III, with agammaglobulinemia (BTK)
• KBG syndrome (ANKRD11)
• Kabuki syndrome 1 (KMT2D)
• Kabuki syndrome 2 (KDM6A)
• Kenny-Caffey syndrome, type (TBCE)
• Kowarski syndrome (GH1)
• LEOPARD syndrome 1 (PTPN11)
• LEOPARD syndrome 2 (RAF1)
• LEOPARD syndrome 3 (BRAF)
• LIG4 syndrome (LIG4)
• Langer mesomelic dysplasia (SHOX)
• Laron dwarfism (GHR)
• Laurence-Moon syndrome (PNPLA6)
• Leprechaunism (INSR)
• Leri-Weill dyschondrosteosis (SHOX)
• Lowry-Wood syndrome (RNU4ATAC)
• MIRAGE syndrome (SAMD9)
• Meier-Gorlin syndrome 1 (ORC1)
• Meier-Gorlin syndrome 2 (ORC4)
• Meier-Gorlin syndrome 3 (ORC6)
• Meier-Gorlin syndrome 4 (CDT1)
• Meier-Gorlin syndrome 5 (CDC6)
• Mental retardation, XL syndromic 16 (FGD1)
• Metachondromatosis (PTPN11)
• Microcephalic osteodysplastic primordial dwarfism, type I (RNU4ATAC)
• Microcephalic osteodysplastic primordial dwarfism, type II (PCNT)
• Microcephaly, growth restriction + increased sister chromatid exchange 2 (TOP3A)
• Microphthalmia, syndromic 3 (SOX2)
• Mulibrey nanism (TRIM37)
• Nijmegen breakage syndrome (NBN)
• Noonan syndrome 1 (PTPN11)
• Noonan syndrome 10 (LZTR1)
• Noonan syndrome 2 (LZTR1)
• Noonan syndrome 3 (KRAS)
• Noonan syndrome 4 (SOS1)
• Noonan syndrome 5 (RAF1)
• Noonan syndrome 6 (NRAS)
• Noonan syndrome 7 (BRAF)
• Noonan syndrome 8 (RIT1)
• Noonan syndrome 9 (SOS2)
• Noonan syndrome-like disorder with
• Noonan syndrome-like with loose anagen hair 1 (SHOC2)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 5 (TOP3A)
• Rabson-Mendenhall syndrome (INSR)
• Robinow syndrome, AD 1 (WNT5A)
• SADDAN (FGFR3)
• SHORT syndrome (PIK3R1)
• Short stature with microcephaly and distinctive facies (CRIPT)
• Short stature with nonspecific skeletal abnormalities (NPR2)
• Short stature, advanced bone age, early-onset osteoarthritis and/or osteochondritis dissecans (ACAN)
• Short stature, idiopathic familial (SHOX)
• Silver-Russell syndrome 3 (IGF2)
• Silver-Russell syndrome 4 (PLAG1)
• Silver-Russell syndrome 5 (HMGA2)
• Spondyloepimetaphyseal dysplasia, aggrecan type (ACAN)
• Spondyloepiphyseal dysplasia, Kimberley type (ACAN)
• Stickler syndrome, type IV (COL9A1)
• Thanatophoric dysplasia, type I + II (FGFR3)
• XFE progeroid syndrome (ERCC4)