IllnessPierre-Robin sequence, differential diagnosis

NGS +

[[Sanger]]

Pierre-Robin sequence (PRS) is characterized by micrognathia, glossoptosis and upper airway obstruction, and it is often associated with cleft palate. PRS can be part of a syndrome or occur in isolation. Non-syndromal PRS has been associated with SOX9 or KCNJ2 mutations. Syndromal PRS may account for 60% of PRS cases. More than 30 syndromes are associated with PRS, such as e.g. Stickler syndrome. Almost half of syndromal PRS patients are diagnosed with Stickler syndrome. Velocardiofacial syndrome is known as 22q11 deletion syndrome or caused by TBX1 mutations that result in complex abnormalities in cardiac, parathyroid, thymic, and facial development. Similarly, Treacher Collins syndrome (TCOF1, POLR1C, POLR1D mutations) involves complex malformations of the face and external ears. The inheritance patterns of PRS follow all classical modes of inheritance, although an unknown proportion of PRS may be attributable to diverse multifactorial events. Summarized molecular genetic data for this group of diseases are not available. If no pathogenic variant(s) are identified in candidate genes, the clinical diagnosis is by no means excluded.

(Basic diagnostic genes: ###; additional genes: ###)

References: file:///C:/Users/EppleJoe/AppData/Local/Temp/jdb-08-00030-v2.pdf

https://reader.elsevier.com/reader/sd/pii/S2468785518301186?token=C234EE00D3AA14BA5E6B77799C98DDAB9E997F3E42C698E4D6CF734ECC6DC55786627312F6EAAF96398DF27D253AA7CE

• Alias: Robin sequence
• Allelic: Andersen syndrome (KCNJ2)
• Allelic: Atrial fibrillation, familial, 9 (KCNJ2)
• Allelic: Brachydactyly, type A1, D (BMPR1B)
• Allelic: Brachydactyly, type A2 (BMP2)
• Allelic: Brachydactyly, type A2 (BMPR1B)
• Allelic: Deafness, AD 37 (COL11A1)
• Allelic: Fibrochondrogenesis 1 (COL11A1)
• Allelic: HFE hemochromatosis, modifier of (BMP2)
• Allelic: High density lipoprotein cholesterol level QTL 7 (EDN1)
• Allelic: Leukemia, acute myeloid (RUNX1)
• Allelic: Leukodystrophy, hypomyelinating, 11 (POLR1C)
• Allelic: Lumbar disc herniation, susceptibility to (COL11A1)
• Allelic: Lymphedema-distichiasis syndrome (FOXC2)
• Allelic: Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus (FOXC2)
• Allelic: Meningioma (MN1)
• Allelic: Paroxysmal nocturnal hemoglobinuria, somatic (PIGA)
• Allelic: Pituitary hormone deficiency, combined, 6 (OTX2)
• Allelic: Platelet disorder, familial, with associated myeloid malignancy (RUNX1)
• Allelic: Question mark ears, isolated (EDN1)
• Allelic: Retinal dystrophy, early-onset, with/-out pituitary dysfunction (OTX2)
• Allelic: Short QT syndrome 3 (KCNJ2)
• Allelic: Tetralogy of Fallot (TBX1)
• Allelic: Vitreoretinopathy with phalangeal epiphyseal dysplasia (COL2A1)
• DD Pierre-Robin sequence: craniofacial anomaly, mandib. hypoplasia, cleft sec. palate, glossoptosis
• Acampomelic campomelic dysplasia (SOX9)
• Achondrogenesis Ib (SLC26A2)
• Acrofacial dysostosis 1, Nager type (SF3B4)
• Acromesomelic dysplasia 3 (BMPR1B)
• Atelosteogenesis, type II (SLC26A2)
• Auriculocondylar syndrome 3 (EDN1)
• CEBALID [Craniofacial def., dysmorph. Ears, Brain Abnorm., expr. Language, ID] syndrome (MN1)
• Campomelic dysplasia (SOX9)
• Campomelic dysplasia with autosomal sex reversal (SOX9)
• Cardiospondylocarpofacial syndrome (MAP3K7)
• Carey-Fineman-Ziter syndrome (MYMK)
• Catel-Manzke syndrome (TGDS)
• Cerebrocostomandibular syndrome (SNRPB)
• Coffin-Siris syndrome 7 (DPF2)
• Congenital disorder of glycosylation, type IIg (COG1)
• Congenital disorder of glycosylation, type It (PGM1)
• Conotruncal anomaly face syndrome (TBX1)
• De la Chapelle dysplasia (SLC26A2)
• DiGeorge syndrome (TBX1)
• Diastrophic dysplasia (SLC26A2)
• Diastrophic dysplasia, broad bone-platyspondylic variant (SLC26A2)
• Epiphyseal dysplasia, multiple, 4 (SLC26A2)
• Frontometaphyseal dysplasia 2 (MAP3K7)
• Glass syndrome (SATB2)
• Hermansky-Pudlak syndrome 10 (AP3D1)
• Hyperphosphatasia with mental retardation syndrome 4 (PGAP3)
• Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
• Marshall syndrome (COL11A1)
• Microphthalmia, syndromic 5 (OTX2)
• Microphthalmia, syndromic 6 (BMP4)
• Miller syndrome (DHODH)
• Multiple congenital anomalies-hypotonia-seizures syndrome 2 (PIGA)
• Neurofibromatosis, type 2 (NF2)
• Orofacial cleft 11 (BMP4)
• Osteopathia striata with cranial sclerosis (AMER1)
• Ritscher-Schinzel syndrome 1 (WASHC5)
• Robin sequence (FOXC2)
• Robin sequence (KIF15)
• Robin sequence (MAP2K6)
• Robin sequence (RUNX1)
• Robin sequence with cleft mandible + limb anomalies (EIF4A3)
• Short stature, amelogenesis imperfecta + skeletal dysplasia with scoliosis (SLC10A7)
• Short stature, facial dysmorphism + skeletal anomalies with/-out cardiac anomalies (BMP2)
• Stickler sydrome, type I, nonsyndromic ocular (COL2A1)
• Stickler syndrome, type I (COL2A1)
• Stickler syndrome, type II (COL11A1)
• TARP syndrome (RBM10)
• Treacher Collins syndrome 1 (TCOF1)
• Treacher Collins syndrome 2 (POLR1D)
• Treacher Collins syndrome 3 (POLR1C)
• Velocardiofacial syndrome (TBX1)