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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessSmall stature, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Small stature comprising 2 guideline-curated and 14 or altogether 104 curated genes according to the clinical signs

ID
KP3002
Number of genes
102 Accredited laboratory test
Examined sequence length
27,2 kb (Core-/Core-canditate-Genes)
294,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ACAN7593AD, AR
BTK1980XLR
GH1654AD, AR
GHR1917AR
GHRHR1272AR
HESX1558AD, AR
IGF1462AR
IGF1R4104AD, AR
IGF2543AD
LHX31209AR
LHX41173AD
OTX2870AD
POU1F1876AD, AR
PROP1681AR
SHOX879PD/PR
STAT5B2364AR
ANKRD117992AD
BLM4254AR
BRAF2301AD
BRCA210257AR
BRIP13750AR
CBL2721AD
CCDC81617AR
CDC61683AR
CDKN1C951AD
CDT11641AR
CENPJ4017AR
CREBBP7329AD
CRIPT306AR
CUL75097AR
DVL12013AD
DVL32261AD
EP3007245AD
ERCC42751AR
ERCC64482AR
ERCC81191AR
FANCA4368AR
FANCB2580XLR
FANCC1677AR
FANCE1611AR
FANCF1125AR
FANCG1869AR
FANCI3987AR
FANCL1128AR
FGD12886XLR
FGFR12469AD
FGFR32421AD
GHRH327AR
GLI24761AD
GLI34743AD
HDAC81134XLD
HMGA2330AD
HRAS570AD
IGFALS1818AR
INSR4149AD, AR
KDM6A4206XLD
KMT2D16614AD
KRAS567AD
LIG42736AR
LZTR12523AD, AR
MAP2K11182AD
MAP2K21203AD
NBN2265AR
NIPBL8415AD
NPR23144AD, AR
NRAS570AD
OBSL15691AR
ORC12586AD
ORC41311AR
ORC6759AR
PALB23561AR
PAPPA25451AD
PCNT10011AR
PIK3R12175AD
PLAG11503Gen Fusion
PNPLA63984AR
PPP1CB350AD
PTPN111782n.k.
RAD211896AD, AR
RAF11947AD
RBBP82694AR
RIT1660AD
ROR22832AD, AR
RPL10651XLR
RPS6KA32223XLD
SAMD94770AD
SHOC21749AD
SLX45505AR
SMC1A3702XLD
SMC33654AD
SOS14002AD
SOS23999AD
SOX2954AD
SOX31341XL
SRCAP9693AD
TBCE1584AR
TOP3A3006AR
TRIM372895AR
UBE2T594AR
WNT5A1143AD
WRN4299AR
XRCC41005AR

Informations about the disease

Clinical Comment

Short stature is defined as a height below the 3rd percentile, usually due to a reduced growth rate or a shortened growth period. Microsomia is particularly noticeable in infancy and during puberty, as this is when the growth spurts are normally greater. The spectrum of causes is extremely heterogeneous. Endogenous causes include genetic endocrine disorders, chromosomal anomalies, metabolic diseases and syndromal dwarfism.

Reference: https://pubmed.ncbi.nlm.nih.gov/28476223/

 

Synonyms
  • Alias: Short stature
  • Allelic: Agammaglobulinemia 7, AR (PIK3R1)
  • Allelic: Agammaglobulinemia, XL 1 (BTK)
  • Allelic: Aplastic anemia (NBN)
  • Allelic: Beckwith-Wiedemann syndrome (CDKN1C)
  • Allelic: Boucher-Neuhauser syndrome (PNPLA6)
  • Allelic: Brachydactyly, type B1 (ROR2)
  • Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
  • Allelic: CATSHL syndrome (FGFR3)
  • Allelic: Cardiomyopathy, dilated, 1NN (RAf1)
  • Allelic: Congenital myopathy with excess of muscle spindles (HRAS)
  • Allelic: Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
  • Allelic: Diabetes mellitus, insulin-resistant, with acanthosis nigricans (INSR)
  • Allelic: Fibromatosis, gingival, 1 (SOS1)
  • Allelic: Gigantism due to GHRF hypersecretion (GHRH)
  • Allelic: Greig cephalopolysyndactyly syndrome (GLI3)
  • Allelic: Hartsfield syndrome (FGFR1)
  • Allelic: Hypercholesterolemia, familial, modifier of (GHR)
  • Allelic: Hyperinsulinemic hypoglycemia, familial, 5 (INSR)
  • Allelic: Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
  • Allelic: Immunodeficiency 36 (PIK3R1)
  • Allelic: Increased responsiveness to growth hormone (GRH)
  • Allelic: Jackson-Weiss syndrome (FGFR1)
  • Allelic: Jawad syndrome (RBBP8) 3
  • Allelic: Juvenile myelomonocytic leukemia (CBL)
  • Allelic: LADD syndrome (FGFR3)
  • Allelic: Leukemia, acute lymphoblastic (NBN)
  • Allelic: Microcephaly 6, primary, AR (CENPJ)
  • Allelic: Microphthalmia, syndromic 5 (OTX2)
  • Allelic: Monosomy 7 myelodysplasia and leukemia syndrome 2 (SAMD9)
  • Allelic: Muenke syndrome (FGFR3)
  • Allelic: Optic nerve hypoplasia + abnormalities of the central nervous system (SOX2)
  • Allelic: Pfeiffer syndrome (FGFR1)
  • Allelic: Polydactyly, postaxial, types A1 + B (GLI3)
  • Allelic: Polydactyly, preaxial, type IV (GLI3)
  • Allelic: Premature ovarian failure 11 (ERCC6)
  • Allelic: RAS-associated autoimmune leukoproliferative disorder (KRAS)
  • Allelic: Retinal dystrophy, early-onset, with/-out pituitary dysfunction (OTX2)
  • Allelic: Septooptic dysplasia (HESX1)
  • Allelic: Spastic paraplegia 39, AR (PNPLA6)
  • Allelic: Trigonocephaly 1 (FGFR1)
  • Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
  • Allelic: UV-sensitive syndrome 1 (ERCC6)
  • Allelic: UV-sensitive syndrome 2 (ERCC8)
  • Allelic: Wilms tumor (BRCA2)
  • Allelic: Xeroderma pigmentosum, group F (ERCC4)
  • Allelic: Xeroderma pigmentosum, type F
  • 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)
  • 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 with immunodeficiency (STAT5B)
  • Growth hormone insensitivity, partial (GHR)
  • Growth retardation with deafness + 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)
  • Menke-Hennekam syndrome 1 (CREBBP)
  • Menke-Hennekam syndrome 2 (EP300)
  • 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)
  • Mungan syndrome (RAD21)
  • 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 loose anagen hair 2 (PPP1CB)
  • Noonan syndrome-like disorder with/-out juvenile myelomonocytic leukemia (CBL)
  • Noonan syndrome-like with loose anagen hair 1 (SHOC2)
  • Oliver-McFarlane syndrome (PNPLA6)
  • Osteoglophonic dysplasia (FGFR1)
  • Pallister-Hall syndrome (GLI3)
  • Panhypopituitarism, XL (SOX3)
  • Pituitary hormone deficiency, combined, 1 (POUF1)
  • Pituitary hormone deficiency, combined, 2 (PROP1)
  • Pituitary hormone deficiency, combined, 3 (LHX3)
  • Pituitary hormone deficiency, combined, 4 (LHX4)
  • Pituitary hormone deficiency, combined, 5 (HESX1)
  • Pituitary hormone deficiency, combined, 6 (OTX2)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 5 (TOP3A)
  • Rabson-Mendenhall syndrome (INSR)
  • Robinow syndrome, AD 1 (WNT5A)
  • Robinow syndrome, AD 2 (DVL1)
  • Robinow syndrome, AD 3 (DVL3)
  • Robinow syndrome, AR (ROR2)
  • Roifman syndrome (RNU4ATAC)
  • Rubinstein-Taybi syndrome 1 (CREBBP)
  • Rubinstein-Taybi syndrome 2 (EP300)
  • SADDAN (FGFR3)
  • SHORT syndrome (PIK3R1)
  • Seckel syndrome 2 (RBBP8)
  • Seckel syndrome 4 (CENPJ)
  • Short stature with microcephaly and distinctive facies (CRIPT)
  • Short stature with nonspecific skeletal abnormalities (NPR2)
  • Short stature, Dauber-Argente type (PAPPA2)
  • Short stature, advanced bone age +/- early-onset osteoarthritis +/- osteochondritis dissecans (ACAN)
  • Short stature, idiopathic familial (SHOX)
  • Short stature, microcephaly + endocrine dysfunction (XRCC4)
  • Short stature, rhizomelic with microcephaly, micrognathia, developmental delay (ARCN1)
  • 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
  • Thanatophoric dysplasia, type I + II (FGFR3)
  • Werner syndrome (WRN)
  • XFE progeroid syndrome (ERCC4)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Gen Fusion
  • PD/PR
  • XL
  • XLD
  • XLR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E34.3

Bioinformatics and clinical interpretation

No text defined