IllnessKleinwuchs, frühe Kindheit; 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, early infantile
• Allelic: Adenocarcinoma of lung, somatic (BRAF)
• Allelic: Adenomas, salivary gland pleomorphic, somatic (PLAG1)
• Allelic: Agammaglobulinemia 7, AR (PIK3R1)
• Allelic: Agammaglobulinemia, XL 1 (BTK)
• Allelic: Aplastic anemia (NBN)
• Allelic: Arteriovenous malformation of the brain, somatic (KRAS)
• Allelic: Beckwith-Wiedemann syndrome (CDKN1C)
• Allelic: Bladder cancer, somatic (FGFR3)
• Allelic: Bladder cancer, somatic (HRAS)
• Allelic: Bladder cancer, somatic (KRAS)
• Allelic: Breast cancer, early-onset, susceptibility to (BRIP1)
• Allelic: Breast cancer, male, susceptibility to (BRCA2)
• Allelic: Breast cancer, somatic (KRAS)
• Allelic: Breast cancer, susceptibility to (PALB2)
• Allelic: Breast cancer, susceptibility to (RAD51)
• Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
• Allelic: CATSHL syndrome (FGFR3)
• Allelic: Cardiofaciocutaneous syndrome (BRAF)
• Allelic: Cardiofaciocutaneous syndrome 2 (KRAS)
• Allelic: Cardiomyopathy, dilated, 1NN (RAF1)
• Allelic: Cervical cancer, somatic (FGFR3)
• Allelic: Colorectal cancer, somatic (BRAF)
• Allelic: Colorectal cancer, somatic (FGFR3)
• Allelic: Colorectal cancer, somatic (NRAS)
• Allelic: Congenital myopathy with excess of muscle spindles (HRAS)
• Allelic: Crouzon syndrome with acanthosis nigricans (FGFR3)
• Allelic: Epidermal nevus, somatic (NRAS)
• Allelic: Fibromatosis, gingival, 1 (SOS1)
• Allelic: Gastric cancer, somatic (KRAS)
• Allelic: Glioblastoma 3 (BRCA2)
• Allelic: Hypercholesterolemia, familial, modifier of (GHR)
• Allelic: Immunodeficiency 36 (PIK3R1)
• Allelic: Increased responsiveness to growth hormone (GHR)
• Allelic: Juvenile myelomonocytic leukemia (CBL)
• Allelic: LADD syndrome (FGFR3)
• Allelic: Leukemia, acute lymphoblastic (NBN)
• Allelic: Leukemia, acute myeloid, somatic (KRAS)
• Allelic: Leukemia, juvenile myelomonocytic (NF1)
• Allelic: Leukemia, juvenile myelomonocytic, somatic (PTPN11)
• Allelic: Lung cancer, somatic (KRAS)
• Allelic: Medulloblastoma (BRCA2)
• Allelic: Melanocytic nevus syndrome, congenital, somatic (NRAS)
• Allelic: Melanoma, malignant, somatic (BRAF)
• Allelic: Melorheostosis, isolated, somatic mosaic (MAP2K1)
• Allelic: Metachondromatosis (PTPN11)
• Allelic: Mirror movements 2 (RAD51)
• Allelic: Muenke syndrome (FGFR3)
• Allelic: Neurocutaneous melanosis, somatic (NRAS)
• Allelic: Nevus sebaceous or woolly hair nevus, somatic (HRAS)
• Allelic: Nevus, epidermal, somatic (FGFR3)
• Allelic: Nonsmall cell lung cancer, somatic (BRAF)
• Allelic: Oculoectodermal syndrome, somatic (KRAS)
• Allelic: Ovarian carcinoma (RRAS2)
• Allelic: Pancreatic cancer 2 (BRCA2)
• Allelic: Pancreatic cancer, susceptibility to, 3 (PALB2)
• Allelic: Pancreatic carcinoma, somatic (KRAS)
• Allelic: Progressive external ophthalmoplegia with mitoch. DNA deletions, AR 5 (TOP3A)
• Allelic: Prostate cancer (BRCA2)
• Allelic: RAS-associated autoimmune leukoproliferative disorder (KRAS)
• Allelic: RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic (NRAS)
• Allelic: Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic (HRAS)
• Allelic: Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic (KRAS)
• Allelic: Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic (NRAS)
• Allelic: Schwannomatosis-2, susceptibility to (LZTR1)
• Allelic: Spermatocytic seminoma, somatic (FGFR3)
• Allelic: Spitz nevus or nevus spilus, somatic (HRAS)
• Allelic: Thyroid carcinoma, follicular, somatic (HRAS)
• Allelic: Thyroid carcinoma, follicular, somatic (NRAS)
• Allelic: Watson syndrome (NF1)
• Allelic: Wilms tumor (BRCA2)
• Allelic: Xeroderma pigmentosum, group F (ERCC4)
• Allelic: Xeroderma pigmentosum, type F/Cockayne syndrome (ERCC4)
• 3-M syndrome 1 (CUL7)
• 3-M syndrome 2 (OBSL1)
• 3-M syndrome 3 (CCDC8)
• Achondroplasia (FGFR3)
• Acid-labile subunit, deficiency of (IGFALS)
• Acromesomelic dysplasia 1, Maroteaux type (NPR2)
• Beckwith-Wiedemann syndrome (CDKN1C)
• Bloom syndrome (BLM)
• Cardiofaciocutaneous syndrome 3 (MAP2K1)
• Cardiofaciocutaneous syndrome 4 (MAP2K2)
• Congenital disorder of glycosylation, type IIj (COG4)
• Costello syndrome (HRAS)
• DNA damage repair defect [panelapp] (ZNF668)
• Diabetes mellitus, transient neonatal 1 (ZFP57)
• Diets-Jongmans syndrome (KDM3B)
• Epiphyseal chondrodysplasia, Miura type (NPR2)
• FINCA [FIbrosis, Neurodegeneration + Cerebral Angiomatosis] syndrome (NHLRC2)
• Failure to thrive + developmental delay [panelapp] (CCDC186)
• Fanconi anemia, complementation group A (FANCA)
• Fanconi anemia, complementation group B (FANCB)
• Fanconi anemia, complementation group C (FANCC)
• Fanconi anemia, complementation group D1 (BRCA2)
• Fanconi anemia, complementation group D2 (FANCD2)
• Fanconi anemia, complementation group E (FANCE)
• Fanconi anemia, complementation group F (FANCF)
• Fanconi anemia, complementation group G (FANCG)
• Fanconi anemia, complementation group I (FANCI)
• Fanconi anemia, complementation group J (BRIP1)
• Fanconi anemia, complementation group L (FANCL)
• 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, isolated, types IA, IB, II (GH1)
• Growth hormone insensitivity with immune dysregulation 1, AR (STAT5B)
• Growth hormone insensitivity with immune dysregulation 2, AD (STAT5B)
• Growth hormone insensitivity, partial (GHR)
• Growth retardation with deafness + mental retardation due to IGF1 deficiency (IGF1)
• Hydatidiform mole, recurrent, 1 (NLRP7)
• Hypochondroplasia (FGFR3)
• IMAGE syndrome (CDKN1C)
• Infantile liver failure syndrome 2 (NBAS)
• Insulin-like growth factor I, resistance to (IGF1R)
• Intellectual developmental disorder, AD 23 (SETD5)
• Isolated growth hormone deficiency, type III, with agammaglobulinemia (BTK)
• KBG syndrome (ANKRD11)
• Kowarski syndrome (GH1))
• LEOPARD syndrome 1 (PTPN11)
• LEOPARD syndrome 2 (RAF1)
• LEOPARD syndrome 3 (BRAF)
• Langer mesomelic dysplasia (SHOX)
• Laron dwarfism (GHR)
• Leri-Weill dyschondrosteosis (SHOX)
• Mandibuloacral dysplasia progeroid syndrome (MTX2)
• Microcephaly + chorioretinopathy, AR, 2 (PLK4)
• Microcephaly, growth deficiency, development delay, brain malform., face dysmor. [panelapp] (ZNF668)
• Microcephaly, growth restriction, increased sister chromatid exchange 2 (TOP3A)
• Mosaic variegated aneuploidy syndrome 2 (CEP57)
• Mulibrey nanism (TRIM37)
• Multiple congenital abnormalities [panelapp] (FOXP4)
• Muscular dystrophy, congenital hearing loss + ovarian insufficiency syndrome (GGPS1)
• Myopathy, mitochondrial + ataxia (MSTO1)
• Neurodevelopmental disorder [panelapp] (FOXP4)
• Neurodevelopmental disorder with cataracts, poor growth + dysmorphic facies (INTS1)
• Neurodevelopmental disorder with microcephaly, seizures, neonatal cholestasis (VPS50)
• Neurofibromatosis, familial spinal (NF1)
• Neurofibromatosis, type 1 (NF1)
• 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 with loose anagen hair 2 (PPP1CB)
• Noonan syndrome-like disorder with/-out juvenile myelomonocytic leukemia (CBL)
• Noonan syndrome-like with loose anagen hair 1 (SHOC2)
• Pituitary hormone deficiency, combined or isolated, 7 (RNPC3)
• Preimplantation embryonic lethality 2 (PADI6)
• Rothmund-Thomson syndrome, type 1 (ANAPC1)
• SADDAN (FGFR3)
• SHORT syndrome (PIK3R1)
• Saul-Wilson syndrome (COG4)
• Short stature with nonspecific skeletal abnormalities (NPR2)
• Short stature, advanced bone age, with/-out early-onset osteoarthr. and/or osteochondr. diss. (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)
• Syndromic intellectual disability, short stature [panelapp] (RAP1B)
• Thanatophoric dysplasia, type I + II (FGFR3)
• XFE progeroid syndrome (ERCC4)