IllnessSmith-Lemli-Opitz syndrome, differential diagnosis

NGS +

[Sanger]

Smith-Lemli-Opitz syndrome is a complex developmental disorder with pronounced facial features, microcephaly, intellectual deficit and behavioral problems/autism as well as malformations of the heart, lungs, kidneys, gastrointestinal tract and genitals. Most patients have syndactyly, but the symptoms can vary considerably. Slightly affected persons show minor physical abnormalities with learning and behavioral problems. Severe cases can be life-threatening with profound intellectual deficits and more severe physical abnormalities.The differential diagnosis includes Meckel and Noonan syndrome, Pallister-Hall syndrome, desmosterolosis, MEND syndrome (chondrodysplasia punctata 2), squalene synthase deficiency and lathosterolosis.

(Basic diagnostic genes: ###)

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1143/

• Sympt.: Polydactyly, sex reversal [in males], renal hypoplasia, unilobar lung
• Alias: 7-dehydrocholesterol reductase deficiency
• Alias: Lethal acrodysgenital syndrome
• Alias: Rutledge lethal multiple anomaly syndrome
• Alias: SLO
• Bardet-Biedl syndrome 13 (MKS1)
• Bardet-Biedl syndrome 14 (CEP290)
• Bardet-Biedl syndrome 14, modifier of (TMEM67)
• COACH syndrome 1 (TMEM67)
• COACH syndrome 2 (CC2D2A)
• COACH syndrome 3 (RPGRIP1L)
• Cardiofaciocutaneous syndrome (BRAF)
• Cardiofaciocutaneous syndrome 2 (KRAS)
• Cardiofaciocutaneous syndrome 3 (MAP2K1)
• Cardiomyopathy, dilated, 1NN (RAF1)
• Chondrodysplasia punctata, XLD (EBP)
• Desmosterolosis (DHCR24)
• Fibromatosis, gingival, 1 (SOS1)
• Greig cephalopolysyndactyly syndrome (GLI3)
• Joubert syndrome 2 (TMEM216)
• Joubert syndrome 20 (TMEM231)
• Joubert syndrome 24 (TCTN2)
• Joubert syndrome 27 (B9D1)
• Joubert syndrome 28 (MKS1)
• Joubert syndrome 29 (TMEM107)
• Joubert syndrome 34 (B9D2)
• Joubert syndrome 5 (CEP290)
• Joubert syndrome 6 (TMEM67)
• Joubert syndrome 7 (RPGRIP1L)
• Joubert syndrome 9 (CC2D2A)
• LEOPARD syndrome 1 (PTPN11)
• LEOPARD syndrome 2 (RAF1)
• LEOPARD syndrome 3 (BRAF)
• Lathosterolosis (SC5D)
• Leber congenital amaurosis 10 (CEP290)
• MEND syndrome (EBP)
• Meckel syndrome 1 (MKS1)
• Meckel syndrome 10 (B9D2)
• Meckel syndrome 11 (TMEM231)
• Meckel syndrome 12 (KIF14)
• Meckel syndrome 13 (TMEM107)
• Meckel syndrome 2 (TMEM216)
• Meckel syndrome 3 (TMEM67)
• Meckel syndrome 4 (CEP290)
• Meckel syndrome 5 (RPGRIP1L)
• Meckel syndrome 6 (CC2D2A)
• Meckel syndrome 7 (NPHP3)
• Meckel syndrome 8 (TCTN2)
• Meckel syndrome 9 (B9D1)
• Metachondromatosis (PTPN11)
• Microcephaly 20, primary, AR (KIF14)
• Nephronophthisis 11 (TMEM67)
• Nephronophthisis 3 (NPHP3)
• 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)
• Orofaciodigital syndrome XVI (TMEM107)
• Pallister-Hall syndrome (GLI3)
• Polydactyly, postaxial, types A1 + B (GLI3)
• Polydactyly, preaxial, type IV (GLI3)
• RAS-associated autoimmune leukoproliferative disorder (KRAS)
• RHYNS syndrome (TMEM67)
• Renal-hepatic-pancreatic dysplasia 1 (NPHP3)
• Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic (KRAS)
• Senior-Loken syndrome 6 (CEP290)
• Smith-Lemli-Opitz syndrome (DHCR7)
• Squalene synthase deficiency (FDFT1)