ORPHA:373
Simpson-Golabi-Behmel syndrome
Synonyms: DGSX · Golabi-Rosen syndrome · SDYS · SGBS · SGBS1 · Simpson dysmorphia syndrome · Simpson-Golabi-Behmel syndrome type 1 · X-linked dysplasia gigantism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A rare X-linked multiple congenital anomalies syndrome characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Simpson-Golabi-Behmel syndrome | DGSX · Golabi-Rosen syndrome · SDYS · SGBS · SGBS1 · Simpson dysmorphia syndrome · Simpson-Golabi-Behmel syndrome type 1 · X-linked dysplasia gigantism syndrome |
| fr | Syndrome de Simpson-Golabi-Behmel | DGX · Dysmorphie de Simpson · SGBS · SGBS1 · Syndrome de Golabi-Rosen · Syndrome de Simpson-Golabi-Behmel type 1 · Syndrome de dysplasie-gigantisme lié à l'X |
| de | Simpson-Golabi-Behmel-Syndrom | Dysplasie-Gigantismus-Syndrom, X-chromosomales (DGSX) · Golabi-Rosen-Syndrom · SGBS · Simpson-Dysmorphie-Syndrom · Simpson-Golabi-Behmel-Syndrom Typ 1 (SGBS1) |
| es | Síndrome de Simpson-Golabi-Behmel | DGSX · SDYS · SGBS1 · Síndrome de Golabi-Rosen · Síndrome de Simpson-Golabi-Behmel tipo 1 · Síndrome de dismorfía de Simpson · Síndrome de displasia gigantismo ligado al cromosoma X |
| it | Sindrome di Simpson-Golabi-Behmel | DGSX · SDYS · SGBS · Sindrome di Golabi-Rosen · Sindrome di Simpson-Golabi-Behmel, tipo 1 · Sindrome dismorfica di Simpson · Sindrome displasia-gigantismo, legata all'X |
| nl | Syndroom van Simpson-Golabi-Behmel | SGBS · SGBS1 · Syndroom van Golabi-Rosen · Syndroom van Simpson-Golabi-Behmel type 1 · X-gebonden dysplasie - gigantisme-syndroom · DGSX · Dysmorfiesyndroom van Simpson · SDYS |
| pt | Síndrome Simpson-Golabi-Behmel | SGBS · SGBS1 · Síndrome Bulldog · Síndrome Golabi-Rosen · Síndrome Simpson-Golabi-Behmel tipo 1 · Síndrome de displasia-gigantismo ligado ao X · Síndrome dismorfia de Simpson |
| pl | Zespół Simpson, Golabi i Behmel | Zespół dysmorfii Simson · DGSX · SDYS · SGBS · SGBS1 · Zespół dysplazja sprzężona z chromosomem X - gigantyzm · Zespół Golabi i Rosena |
| cs | Simpsonův-Golabiho-Behmelové syndrom | DGSX · SDYS · SGBS · SGBS1 · Syndrom Simpsonova dysmorfismu · Golabiho-Rosenův syndrom · Simpsonův-Golabiho-Behmelové syndrom, typ 1 · Simpson-Golabi-Behmelové syndrom · Golabi-Rosenův syndrom · Simpson-Golabi-Behmelův syndrom, typ 1 |
| uk | Синдром Сімпсона-Голабі-Бехмеля | DGSX · Синдром Голабі-Розена · SDYS · SGBS · SGBS1 · Синдром дисморфії Сімпсона · Синдром Сімпсона-Голабі-Бехмеля, тип 1 · Синдром гігантизму при Х-зчепленій дисплазії |
| zh | Simpson-Golabi-Behmel综合征 | X连锁发育不良巨人症综合征 |
| tr | Simpson-Golabi-Behmel sendromu | DGSX · SDYS · SGBS · SGBS1 · Golabi-Rosen sendromu · Simpson dismorfi sendromu · Simpson-Golabi-Behmel sendromu tip 1 · X'e bağlı displazi devlik sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 312870 | E | validated | |
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| ICD-11 | LD2C | NTBT | index | validated |
| MONDO | 0010731 | E | validated | |
| MeSH | C537340 | E | validated | |
| UMLS | C4317043 | E | validated | |
| GARD | 7649 | E | validated | |
| MedDRA | 10085695 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (10):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:156207Macroglossia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare surgical maxillo-facial diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:93460Overgrowth syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:108979Syndromic diaphragmatic or abdominal wall malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases - ORPHA:180779Syndromic diaphragmatic or thoracic malformation
rare surgical thoracic diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GPC4 | Candidate gene tested in | Not yet assessed | HGNC:4452 | ENSG00000076716 | 300168 | Xq26.2 | glypican 4 | 21082656[PMID]_20301398[PMID] |
| GPC3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4451 | ENSG00000147257 | 300037 | Xq26.2 | glypican 3 | 10814714[PMID]_20301398[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 250 cases | Worldwide | Case(s) | Validated | 25238977[PMID]_[EXPERT] |
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
79 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0001769 | Broad foot | |
| HP:0000280 | Coarse facial features | |
| HP:0000028 | Cryptorchidism | |
| HP:0002240 | Hepatomegaly | |
| HP:0000316 | Hypertelorism | |
| HP:0003212 | Increased circulating IgE concentration | |
| HP:0000256 | Macrocephaly | |
| HP:0000158 | Macroglossia | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0001773 | Short foot | |
| HP:0001831 | Short toe | |
| HP:0001744 | Splenomegaly | |
| HP:0002558 | Supernumerary nipple | |
| HP:0000098 | Tall stature | |
| HP:0001629 | Ventricular septal defect | |
| HP:0002948 | Vertebral fusion | |
| HP:0003422 | Vertebral segmentation defect | |
| HP:0000154 | Wide mouth | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0011039 | Abnormal helix morphology | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000463 | Anteverted nares | |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | |
| HP:0001631 | Atrial septal defect | |
| HP:0011304 | Broad thumb | |
| HP:0011710 | Bundle branch block | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000175 | Cleft palate | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0001522 | Death in infancy | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0006101 | Finger syndactyly | |
| HP:0002705 | High, narrow palate | |
| HP:0000126 | Hydronephrosis | |
| HP:0000072 | Hydroureter | |
| HP:0001943 | Hypoglycemia | |
| HP:0000023 | Inguinal hernia | |
| HP:0002164 | Nail dysplasia | |
| HP:0001539 | Omphalocele | |
| HP:0000767 | Pectus excavatum | |
| HP:0001561 | Polyhydramnios | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001657 | Prolonged QT interval | |
| HP:0002650 | Scoliosis | |
| HP:0009536 | Short 2nd finger | |
| HP:0000470 | Short neck | |
| HP:0003196 | Short nose | |
| HP:0001792 | Small nail | |
| HP:0001770 | Toe syndactyly | |
| HP:0001537 | Umbilical hernia | |
| HP:0000073 | Ureteral duplication | |
| HP:0000465 | Webbed neck | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0001608 | Abnormality of the voice | |
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0001638 | Cardiomyopathy | |
| HP:0000204 | Cleft upper lip | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0001374 | Congenital hip dislocation | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0000286 | Epicanthus | |
| HP:0001263 | Global developmental delay | |
| HP:0002884 | Hepatoblastoma | |
| HP:0001609 | Hoarse voice | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000047 | Hypospadias | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0002664 | Neoplasm | |
| HP:0002667 | Nephroblastoma | |
| HP:0003006 | Neuroblastoma | |
| HP:0004510 | Pancreatic islet-cell hyperplasia | |
| HP:0001748 | Polysplenia | |
| HP:0001250 | Seizure | |
| HP:0001762 | Talipes equinovarus | |
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/373
- This record as JSON: /data/d/373.json