Sanjad-Sakati syndrome
Synonyms: HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome · Hypoparathyroidism-short stature-intellectual disability-seizures syndrome · Richardson-Kirk syndrome · SSS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sanjad-Sakati syndrome | HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome · Hypoparathyroidism-short stature-intellectual disability-seizures syndrome · Richardson-Kirk syndrome · SSS |
| fr | Syndrome de Sanjad-Sakati | SSS · Syndrome HRD · Syndrome d'hypoparathyroïdie-déficience intellectuelle-dysmorphie · Syndrome d'hypoparathyroïdie-petite taille-déficience intellectuelle-convulsions · Syndrome de Richardson-Kirk |
| de | Sanjad-Sakati-Syndrom | HRD-Syndrom · Hypoparathyreoidismus-Intelligenzminderung-Dysmorphie-Syndrom · Hypoparathyreoidismus-Kleinwuchs-Intelligenzminderung-zerebrale Krämpfe-Syndrom · Richadson-Kirk-Syndrom · SSS |
| es | Síndrome de Sanjad-Sakati | Síndrome de Richardson-Kirk · Síndrome de hipoparatiroidismo-discapacidad intelectual-dismorfia · Síndrome de hipoparatiroidismo-talla baja-discapacidad intelectual-crisis |
| it | Sindrome di Sanjad-Sakati | SSS · Sindrome HRD · Sindrome di Richardson-Kirk · Sindrome ipoparatiroidismo-bassa statura-disabilità cognitiva-convulsioni · Sindrome ipoparatiroidismo-disabilità cognitiva-dismorfismi · Sindrome ipoparatiroidismo-disabilità intellettiva-dismorfismi |
| nl | Syndroom van Sanjad-Sakati | HRD-syndroom · Hypoparathyreoïdie - intellectuele achterstand - dysmorfie-syndroom · Hypoparathyreoïdie - kleine gestalte - intellectuele achterstand - insulten-syndroom · SSS · Syndroom van Richardson-Kirk |
| pt | Síndrome Sanjad-Sakati | SSS · Síndrome HRD · Síndrome Richardson-Kirk · Síndrome de hipoparatiroidismo-baixa estatura-perturbação do desenvolvimento intelectual-convulsões · Síndrome de hipoparatiroidismo-perturbação do desenvolvimento intelectual-dismorfia |
| pl | Zespół Sanjada i Sakatiego | SSS · Zespół HRD · Zespół niedoczynności przytarczyc, niepełnosprawności intelektualnej i dysmorfii · Zespół niedoczynności przytarczyc, niskiego wzrostu, niepełnosprawności intelektualnej i napadów padaczkowych · Zespół Richardsona i Kirka |
| cs | Sanjadův-Sakatiové syndrom | HRD syndrom · Syndrom zahrnující hypoparatyreózu, mentální retardaci a dysmorfismus · Syndrom zahrnující hypoparatyreózu, nízký vzrůst, mentální retardaci a záchvaty · SSS · Richardsonův-Kirkův syndrom · Sanjad-Sakatiové syndrom · Richardson-Kirkův syndrom |
| uk | Синдром Санджада-Сакаті | Синдром HRD · Синдром гіпопаратиреозу - інтелектуальної недостатності - дисморфізму · Синдром гіпопаратиреозу- низькорослості - інтелектуальної недостатності - судом · Синдром Річардсона-Кірка · SSS |
| zh | Sanjad-Sakati综合征 | 甲状旁腺功能减退-身材矮小-智力障碍-癫痫发作综合征 |
| tr | Sanjad-Sakati sendromu | SSS · HRD sendromu · Richardson-Kirk sendromu · Hipoparatiroidi-zihinsel yetersizlik-dismorfizm sendromu · Hipoparatiroidi-kısa boy-zihinsel yetersizlik-nöbet sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 241410 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD24.D | NTBT | index | validated |
| MONDO | 0009426 | E | validated | |
| MONDO | 9426 | E | validated | |
| MeSH | C537157 | E | validated | |
| UMLS | C1855840 | E | validated | |
| GARD | 411 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:181402Syndrome with hypoparathyroidism
rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TBCE | Disease-causing germline mutation(s) in | Assessed | HGNC:11582 | ENSG00000284770 | 604934 | 1q42.3 | tubulin folding cofactor E | 12389028[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
36 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0008198 | Congenital hypoparathyroidism | |
| HP:0000444 | Convex nasal ridge | |
| HP:0000490 | Deeply set eye | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000348 | High forehead | |
| HP:0002905 | Hyperphosphatemia | |
| HP:0002901 | Hypocalcemia | |
| HP:0000829 | Hypoparathyroidism | |
| HP:0001249 | Intellectual disability | |
| HP:0000343 | Long philtrum | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0001250 | Seizure | |
| HP:0008846 | Severe intrauterine growth retardation | |
| HP:0001773 | Short foot | |
| HP:0004322 | Short stature | |
| HP:0200055 | Small hand | |
| HP:0000233 | Thin vermilion border | |
| Frequent (79-30%) | ||
| HP:0000682 | Abnormality of dental enamel | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0002205 | Recurrent respiratory infections | |
| Occasional (29-5%) | ||
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | |
| HP:0000483 | Astigmatism | |
| HP:0005374 | Cellular immunodeficiency | |
| HP:0007957 | Corneal opacity | |
| HP:0000028 | Cryptorchidism | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0005214 | Intestinal obstruction | |
| HP:0003198 | Myopathy | |
| HP:0005686 | Patchy osteosclerosis | |
| HP:0003416 | Spinal canal stenosis | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2323
- This record as JSON: /data/d/2323.json