ORPHA:818
Smith-Lemli-Opitz syndrome
Synonyms: 7-dehydrocholesterol reductase deficiency · RSH syndrome · SLOS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare genetic developmental disorder characterized by multiple congenital anomalies (pre- and postnatal growth retardation, microcephaly, male genital anomalies), intellectual disability, and behavioral problems.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Smith-Lemli-Opitz syndrome | 7-dehydrocholesterol reductase deficiency · RSH syndrome · SLOS |
| fr | Syndrome de Smith-Lemli-Opitz | Déficit en 7-déhydrocholestérol réductase · SLOS · Syndrome RSH · Syndrome SLO |
| de | Smith-Lemli-Opitz-Syndrom | 7-Dehydrocholesterinreduktase-Mangel · RSH-Syndrom |
| es | Síndrome de Smith-Lemli-Opitz | Deficiencia de 7-deshidrocolesterol-reductasa · SLOS · Síndrome RSH |
| it | Sindrome di Smith-Lemli-Opitz | Deficit di 7-deidrocolesterolo reduttasi · SLOS · Sindrome RSH |
| nl | Syndroom van Smith-Lemli-Opitz | Deficiëntie van 7-dehydrocholesterolreductase · RSH-syndroom · SLOS |
| pt | Síndrome Smith-Lemli-Opitz | Deficiência de 7-desidrocolesterol redutase · SLOS · Síndrome RSH |
| pl | Zespół Smitha, Lemliego i Opitza | Niedobór reduktazy 7-dehydrocholesterolu · SLOS · Zespół RSH |
| cs | Smithův-Lemliův-Opitzův syndrom | Deficit 7-dehydrocholesterol reduktázy · RHS syndrom · SLOS · Syndrom Smith-Lemli-Opitz · Smith-Lemli-Opitzův syndrom |
| uk | Синдром Сміта-Лемлі-Опітца | Дефіцит 7-дегідрохолестеринредуктази · RSH-синдром · SLOS |
| zh | Smith-Lemli-Opitz综合征 | 7-脱氢胆固醇还原酶缺乏症 |
| tr | Smith-Lemli-Opitz sendromu | SLOS · RSH sendromu · 7-dehidrokolesterol redüktaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 270400 | E | validated | |
| ICD-10 | Q87.1 | NTBT | inclusion | validated |
| ICD-11 | 5C52.10 | NTBT | index | validated |
| MONDO | 0010035 | E | validated | |
| MeSH | D019082 | E | validated | |
| UMLS | C0175694 | E | validated | |
| GARD | 5683 | E | validated | |
| MedDRA | 10078573 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (11):
- ORPHA:32551146,XY difference of sex development due to a cholesterol synthesis defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases; rare transplant-related disorders - ORPHA:98650Craniofacial anomaly with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:79195Sterol biosynthesis disorder
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases - ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:98574Syndromic epicanthus
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DHCR7 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2860 | ENSG00000172893 | 602858 | 11q13.4 | 7-dehydrocholesterol reductase | 20301322[PMID] |
5
Prevalence and incidence
8 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3.7 / 100 000 | Europe | Value and class | Validated | [EXPERT]_10807690[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.7 / 100 000 | United Kingdom | Value and class | Validated | 9678700[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 5.85 / 100 000 | Slovakia | Value and class | Validated | 10678669[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.6 / 100 000 | Canada | Value and class | Not yet validated | 7395908[PMID]_11471166[PMID]_15480380[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.65 / 100 000 | United States | Value and class | Not yet validated | 9024554[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | — | Czech Republic | Class only | Validated | 10439210[PMID]_23059950[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.4314 / 100 000 | Korea, Republic of | Value and class | Validated | 33836803[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
106 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0006482 | Abnormal dental morphology | |
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0000463 | Anteverted nares | |
| HP:0010569 | Elevated 7-dehydrocholesterol | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0001252 | Hypotonia | |
| HP:0010880 | Increased nuchal translucency | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0004322 | Short stature | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0002101 | Abnormal lung lobation | |
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0001600 | Abnormality of the larynx | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0001631 | Atrial septal defect | |
| HP:0006695 | Atrioventricular canal defect | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000717 | Autism | |
| HP:0004422 | Biparietal narrowing | |
| HP:0000175 | Cleft palate | |
| HP:0008665 | Clitoral hypertrophy | |
| HP:0000028 | Cryptorchidism | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0000965 | Cutis marmorata | |
| HP:0001262 | Excessive daytime somnolence | |
| HP:0000996 | Facial capillary hemangioma | |
| HP:0000212 | Gingival overgrowth | |
| HP:0002827 | Hip dislocation | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000047 | Hypospadias | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000343 | Long philtrum | |
| HP:0001561 | Polyhydramnios | |
| HP:0001830 | Postaxial foot polydactyly | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0009623 | Proximal placement of thumb | |
| HP:0000508 | Ptosis | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0002719 | Recurrent infections | |
| HP:0100716 | Self-injurious behavior | |
| HP:0000470 | Short neck | |
| HP:0002360 | Sleep abnormality | |
| HP:0002777 | Tracheal stenosis | |
| HP:0001629 | Ventricular septal defect | |
| HP:0002119 | Ventriculomegaly | |
| HP:0006610 | Wide intermamillary distance | |
| HP:0000154 | Wide mouth | |
| Occasional (29-5%) | ||
| HP:0000499 | Abnormal eyelash morphology | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0100542 | Abnormal localization of kidney | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0005264 | Abnormality of the gallbladder | |
| HP:0006288 | Advanced eruption of teeth | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0010297 | Bifid tongue | |
| HP:0001156 | Brachydactyly | |
| HP:0000518 | Cataract | |
| HP:0000453 | Choanal atresia | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0006101 | Finger syndactyly | |
| HP:0001543 | Gastroschisis | |
| HP:0000501 | Glaucoma | |
| HP:0001360 | Holoprosencephaly | |
| HP:0000126 | Hydronephrosis | |
| HP:0000316 | Hypertelorism | |
| HP:0001276 | Hypertonia | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0000612 | Iris coloboma | |
| HP:0002808 | Kyphosis | |
| HP:0003027 | Mesomelia | |
| HP:0000171 | Microglossia | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000520 | Proptosis | |
| HP:0002021 | Pyloric stenosis | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0008905 | Rhizomelia | |
| HP:0000647 | Sclerocornea | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001171 | Split hand | |
| HP:0000486 | Strabismus | |
| HP:0011069 | Supernumerary tooth | |
| HP:0001884 | Talipes calcaneovalgus | |
| HP:0009804 | Tooth agenesis | |
| HP:0009465 | Ulnar deviation of finger | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0000074 | Ureteropelvic junction obstruction | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/818
- This record as JSON: /data/d/818.json