IllnessOvergrowth syndromes, differential diagnosis

NGS +

[Sanger]

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)