IllnessKleinwuchs im Kindesalter, Differentialdiagnose

NGS +

[Sanger]

Group of heterogenous dieases: Short stature, optimally defined relative to the genetic endowment of the individual, is recognized by comparing an individual’s height with that of a large population of a similar genetic background, more particularly, using the mid-parental target height

• Alias: Short stature, infantile
• Allelic: Beckwith-Wiedemann syndrome (CDKN1C)
• Allelic: Bladder cancer, somatic (FGFR3)
• Allelic: Breast cancer, susceptibility to (RAD51)
• 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: Hydatidiform mole, recurrent, 1 (NLRP7)
• 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 (NF1)
• Allelic: Leukemia, juvenile myelomonocytic, somatic (PTPN11)
• Allelic: Metachondromatosis (PTPN11)
• Allelic: Mirror movements 2 (RAD51)
• Allelic: Muenke syndrome (FGFR3)
• Allelic: Multi Locus Imprinting Disturbance (PADI6)
• Allelic: Neurofibromatosis, familial spinal (NF1)
• Allelic: Neurofibromatosis, type 1 (NF1)
• Allelic: Nevus, epidermal, somatic (FGFR3)
• Allelic: Oocyte/zygote/embryo maturation arrest 16 (PADI6)
• Allelic: Oocyte/zygote/embryo maturation arrest 18 (NLRP2)
• Allelic: Preimplantation embryonic lethality 2 [MONDO:0014978, panelapp] (PADI6)
• Allelic: SADDAN (FGFR3)
• Allelic: Spermatocytic seminoma, somatic (FGFR3)
• Allelic: Thanatophoric dysplasia, type I-II (FGFR3)
• Allelic: Watson syndrome (NF1)
• 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)
• Allelic: Infantile liver failure syndrome 2 (NBAS)
• Allelic: Ovarian carcinoma (RRAS2)
• 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)
• Diabetes mellitus, transient neonatal 1 (ZFP57)
• Diabetes mellitus, transient neonatal, 1; IUGR [MONDO:0011073] (ZFP57)
• Diets-Jongmans syndrome (KDM3B)
• Encephalopathy, progressive, with amyotrophy + optic atrophy (TBCE)
• Epiphyseal chondrodysplasia, Miura type (NPR2)
• Epiphyseal dysplasia, multiple, 6 (COL9A1)
• FINCA syndrome: FIbrosis, Neurodegeneration +Cerebral Angiomatosis (NHLRC2)
• Failure to thrive, developmental delay [panelapp] (CCDC186)
• 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 R (RAD51)
• 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)
• IUGR phenotypes caused by maternal effect gene IUGR [panelapp] (NLRP2)
• Insulin-like growth factor I, resistance to (IGF1R)
• Intellectual developmental disorder, AD 23 (SETD5)
• 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)
• Mandibuloacral dysplasia progeroid syndrome (MTX2)
• 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 dysplasia, Saul-Wilson type [MONDO:0019407, panelapp] (ANAPC1)
• Microcephalic osteodysplastic primordial dwarfism, type I (RNU4ATAC)
• Microcephalic osteodysplastic primordial dwarfism, type II (PCNT)
• Microcephaly and chorioretinopathy, AR, 2 (PLK4)
• Microcephaly, growth restriction + increased sister chromatid exchange 2 (TOP3A)
• Microphthalmia, syndromic 3 (SOX2)
• Mulibrey nanism (TRIM37)
• Muscular dystrophy, congenital hearing loss, ovarian insufficiency syndrome (GGPS1)
• Myopathy, mitochondrial + ataxia (MSTO1)
• Neurodevelopmental disorder with microcephaly, seizures, neonatal cholestasis (VPS50)
• Neurodevelopmental disorder, cataracts, poor growth, dysmorphic facies (INTS1)
• Neurodevelopmental disorder, multiple congenital abnormalities (FOXP4)
• Neurodevelopmental disorder, poor growth, large ears, dysmorphic face (ZNF668)
• Neurofibromatosis-Noonan syndrome (NF1)
• Nijmegen breakage syndrome (NBN)
• Noonan syndrome 1 (PTPN11)
• Noonan syndrome 10 (LZTR1)
• Noonan syndrome 11 (MRAS)
• Noonan syndrome 12 (RRAS2)
• Noonan syndrome 13 (MAPK1)
• Noonan syndrome 14 (SPRED2)
• 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 [panelapp] (RASA2)
• Noonan syndrome-like disorder +/- juvenile myelomonocytic leukemia (CBL)
• Noonan syndrome-like disorder with loose anagen hair 2 (PPP1CB)
• Noonan syndrome-like with loose anagen hair 1 (SHOC2)
• Pituitary hormone deficiency, combined or isolated, 7 (RNPC3)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 5 (TOP3A)
• Rabson-Mendenhall syndrome (INSR)
• Robinow syndrome, AD 1 (WNT5A)
• Rothmund-Thomson syndrome, type 1 (ANAPC1)
• SADDAN (FGFR3)
• SHORT syndrome (PIK3R1)
• Short stature with microcephaly and distinctive facies (CRIPT)
• Short stature with nonspecific skeletal abnormalities (NPR2)
• Short stature, IUGR [panelapp] (PADI6)
• Short stature, IUGR, failure to thrive, body asymmetry [panelapp] (NLRP5)
• Short stature, IUGR, fetal wastage [panelapp] (NLRP7)
• Short stature, advanced bone age, early-onset osteoarthritis and/or osteochondritis dissecans (ACAN)
• Short stature, idiopathic familial (SHOX)
• Short stature, optic nerve atrophy +Pelger-Huet anomaly (NBAS)
• 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)
• Syndromic ID, short stature [panelapp] (RAP1B)
• Thanatophoric dysplasia, type I + II (FGFR3)
• XFE progeroid syndrome (ERCC4)