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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessSmith-Lemli-Opitz syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Smith-Lemli-Opitz syndrome comprising 1 core genes, 13 core candidate genes and altogether 29 curated genes according to the clinical signs

ID
SP5011
Number of genes
29 Accredited laboratory test
Examined sequence length
42,9 kb (Core-/Core-canditate-Genes)
65,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
CC2D2A4863AR
CEP2907440AR
DHCR71428AR
EBP693XL
KIF144947AR
LZTR12523AD, AR
MKS11680AR
NPHP33993AR
PTPN111782AD
RPGRIP1L3948AR
SOS14002AD
TCTN22094AR
TMEM216438AR
TMEM672988AR
B9D1615AR
B9D2528AR
BRAF2301AD
DHCR241551AR
FDFT11254AR
GLI34743AD
KRAS567AD
MAP2K11182AD
NRAS570AD
RAF11947AD
RIT1660AD
SC5D900AR
SOS23999AD
TMEM107514AR
TMEM2311110AR

Informations about the disease

Clinical Comment

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/

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q87.8

Bioinformatics and clinical interpretation

No text defined