IllnessPrader-Willi syndrome, differential diagnosis

Often imprinting dysfunctional -> paternal proximal chromosome 15q inactive/deleted; UPD etc.

NGS +

Hypothalamic-pituitary dysfunction with severe hypotonia, feeding deficits during neonatal period, then excessive weight gain with hyperphagia, risk of severe obesity in child-/adulthood, learning difficulties, deficits of social skills, behavioral or severe psychiatric problems

Diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, small hands + feet

~70% PWS patients have deletion 15q11.2-q13

1% PWS patients chromosomal rearrangement with deletion in 15q11.2-q13

<1% PWS patients chromosomal rearrangements breaking in 15q11.2-q13

• Alias: Prader-Labhart-Willi syndrome
• Allelic: ACTH-independent macronodular adrenal hyperplasia (GNAS)
• Allelic: Fragile X tremor/ataxia syndrome (FMR1)
• Allelic: Leber congenital amaurosis 10 (CEP290)
• Allelic: McCune-Albright syndrome, somatic, mosaic (GNAS)
• Allelic: Osseous heteroplasia, progressive (GNAS)
• Allelic: Pituitary adenoma 3, multiple types, somatic (GNAS)
• Allelic: Premature ovarian failure 1 (FMR1)
• Allelic: Retinitis pigmentosa 51 (TTC8)
• Allelic: Retinitis pigmentosa 55 (ARL6)
• Allelic: Retinitis pigmentosa 74 (BBS2)
• Alstrom syndrome (ALMS1)
• Bardet-Biedl syndrome 1 (BBS1)
• Bardet-Biedl syndrome 1, modifier of (ARL6)
• Bardet-Biedl syndrome 10 (BBS10)
• Bardet-Biedl syndrome 12 (BBS12)
• Bardet-Biedl syndrome 14 (CEP290)
• Bardet-Biedl syndrome 16 (SDCCAG8)
• Bardet-Biedl syndrome 2 (BBS2)
• Bardet-Biedl syndrome 3 (ARL6)
• Bardet-Biedl syndrome 4 (BBS4)
• Bardet-Biedl syndrome 5 (BBS5)
• Bardet-Biedl syndrome 6 (MKKS)
• Bardet-Biedl syndrome 7 (BBS7)
• Bardet-Biedl syndrome 8 (TTC8)
• Bardet-Biedl syndrome 9 (BBS9)
• Borjeson-Forssman-Lehmann syndrome (PHF6)
• Cohen syndrome (VPS13B)
• Desanto-Shinawi syndrome (WAC)
• Fragile X syndrome (FMR1)
• Joubert syndrome 5 (CEP290)
• McKusick-Kaufman syndrome (MKKS)
• Meckel syndrome 4 (CEP290)
• Myotonic dystrophy 1 (DMPK)
• Prader-Willi syndrome (NDN, SNRPN)
• Pseudohypoparathyroidism Ia, Ib, Ic (GNAS)
• Pseudopseudohypoparathyroidism (GNAS)
• Schaaf-Yang syndrome (MAGEL2)
• Senior-Loken syndrome 6 (CEP290)
• Senior-Loken syndrome 7 (SDCCAG8)
• Severe early-onset obesity-insulin resistance syndrome - SH2B1 deficiency [MONDO:0017994] (SH2B1)
• Severe obesity with neurobehavioral features (SIM1) [panelapp]
• Spinal muscular atrophy-1 to -4 (SMN1)