©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessOvergrowth syndromes, differential diagnosis


Short information

Comprehensive differential diagnostic panel for overgrowth syndromes comprising 1 guideline-curated, 6 additional and altogether 23 curated genes according to the clinical signs

Number of genes
12 Accredited laboratory test
Examined sequence length
20,4 kb (Core-/Core-canditate-Genes)
37,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity

Informations about the disease

Clinical Comment

Over-growth syndromes form a group of rare congenital diseases with the main characteristic of a circumscribed (segmental) or complete pathological growth that can be detected during pregnancy, shortly after birth or in the first years of life. High growth is defined as a body length/height above the 97th percentile. High growth can either be a norm variant ("constitutional high growth" or "familial high growth") or have a pathological cause. Pathological macrosomia is usually syndromal. There is a high degree of phenotypic overlap between the syndromes in question.

Reference: https://www.nature.com/articles/s41574-019-0180-z


  • Alias: Tall stature, overgrowth syndrome
  • Allelic: Acromicric dysplasia (FBN1)
  • Allelic: Acute myeloid leukemia, somatic (DNMT3A)
  • Allelic: Autism, susceptibility to, 18 (CHD8)
  • Allelic: Basal ganglia calcification, idiopathic, 4 (PDGFRB)
  • Allelic: Breast cancer, somatic (PIK3CA)
  • Allelic: CLAPO syndrome, somatic (PIK3CA)
  • Allelic: CLOVE syndrome, somatic (PIK3CA)
  • Allelic: Colorectal cancer, somatic (PIK3CA)
  • Allelic: Cowden syndrome 1 (PTEN)
  • Allelic: Diabetes mellitus, type II (AKT2)
  • Allelic: Ectopia lentis, familial (FBN1)
  • Allelic: Focal cortical dysplasia, type II, somatic (MTOR)
  • Allelic: Gastric cancer, somatic (PIK3CA)
  • Allelic: Geleophysic dysplasia 2 (FBN1)
  • Allelic: Hepatocellular carcinoma, somatic (PIK3CA)
  • Allelic: Heyn-Sproul-Jackson (DNMT3A)
  • Allelic: Joubert syndrome 10 (OFD1)
  • Allelic: Keratosis, seborrheic, somatic (PIK3CA)
  • Allelic: Lhermitte-Duclos syndrome (PTEN)
  • Allelic: Macrodactyly, somatic (PIK3CA)
  • Allelic: Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic (PIK3CA)
  • Allelic: Myeloproliferative disorder with eosinophilia (PDGFRB)
  • Allelic: Myofibromatosis, infantile, 1 (PDGFRB)
  • Allelic: Nevus, epidermal, somatic (PIK3CA)
  • Allelic: Nonsmall cell lung cancer, somatic (PIK3CA)
  • Allelic: Orofaciodigital syndrome I (OFD1)
  • Allelic: Ovarian cancer, somatic (PIK3CA)
  • Allelic: Premature aging syndrome, Penttinen type (PGFRB)
  • Allelic: Premature ovarian failure 1 (FMR1_CGG)
  • Allelic: Retinitis pigmentosa 23 (OFD1)
  • Allelic: Schizophrenia 15 (SHANK3)
  • Allelic: Stiff skin syndrome (FBN1)
  • Allelic: Weill-Marchesani syndrome 2, dominant (FBN1)
  • Allelic: Wilms tumor, somatic (GPC3)
  • Beckwith-Wiedemann syndrome, IMAGE syndrome (CDKN1C)
  • Cohen-Gibson syndrome (EED)
  • Cowden syndrome 5 (PIK3CA)
  • Fragile X syndrome (FMR1_CGG)
  • Fragile X tremor/ataxia syndrome (FMR1_CGG)
  • Hypoinsulinemic hypoglycemia with hemihypertrophy (AKT2)
  • Imagawa-Matsumoto syndrome (SUZ12)
  • Intellectual developmental disorder, AD 23 (SETD5)
  • Intellectual developmental disorder, XL 93 (BRWD3)
  • Kosaki overgrowth syndrome (PDGFRB)
  • Luscan-Lumish syndrome (SETD2)
  • MASS syndrome (FBN1)
  • Macrocephaly, acquired, with impaired intellectual development (NFIB)
  • Macrocephaly/autism syndrome (PTEN)
  • Malan syndrome (NFIX)
  • Marfan lipodystrophy syndrome (FBN1)
  • Marfan syndrome (FBN1)
  • Marshall-Smith syndrome (NFIX)
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (AKT3)
  • Perlman syndrome (DIS3L2)
  • Phelan-McDermid syndrome (SHANK3)
  • Rahman syndrome (H1-4 syn. HIST1H1E)
  • Shashi-Pena syndrome (ASXL2)
  • Simpson-Golabi-Behmel syndrome (GPC3)
  • Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
  • Smith-Kingsmore syndrome (MTOR)
  • Sotos syndrome 1 (NSD1)
  • Sotos syndrome 2 (NFIX)
  • Tatton-Brown-Rahman syndrome (DNMT3A)
  • Tenorio syndrome (RNF125)
  • Thauvin-Robinet-Faivre syndrome (FIBP)
  • Weaver syndrome (EZH2)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined