Temple syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare, genetic disease characterized by pre-and postnatal growth delay, feeding difficulties, muscular hypotonia, motor developmental delay (with or without mild intellectual disability) and mild facial dysmorphism, such as broad, prominent forehead, short nose with flat nasal root and wide tip, downturned corners of mouth, high-arched palate and micrognathia. Additonal features include childhood-onset central obesity, premature puberty and variable bone abnormalities (e.g. small hands and feet, dolichospondyly, slender long bones and craniofacial disproportion).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Temple syndrome | |
| fr | Syndrome de Temple | |
| de | Temple-Syndrom | |
| es | Síndrome de Temple | |
| it | Ritardo dello sviluppo motorio da difetto di espressione dei geni paterni in 14q32.2 | |
| nl | Syndroom van Temple | |
| pt | Atraso do desenvolvimento motor por anomalia nos genes de expressão paterna localizados em 14q32.2 | |
| pl | Opóźnienie rozwoju ruchowego z powodu ekspresji ojcowskiego wadliwego genu 14q32.2 | |
| cs | Opožděný motorický vývoj způsobený defektem paternální exprese 14q32.2 | |
| uk | Синдром Темпла | |
| zh | Temple综合征 | |
| tr | Temple sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616222 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014541 | E | validated | |
| MONDO | 14541 | E | validated | |
| MeSH | C000726750 | E | validated | |
| UMLS | C4015558 | E | validated | |
| GARD | 13431 | 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 (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:641343Imprinting disorders
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
Genes
0 direct · 9 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 53 cases | Worldwide | Case(s) | Validated | 26377239[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26377239[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.
HPO phenotypes
28 annotations · validated 2019-10-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008947 | Floppy infant | |
| HP:0001270 | Motor delay | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0000826 | Precocious puberty | |
| HP:0001773 | Short foot | |
| HP:0001518 | Small for gestational age | |
| HP:0200055 | Small hand | |
| Frequent (79-30%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0011968 | Feeding difficulties | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0001513 | Obesity | |
| HP:0001622 | Premature birth | |
| HP:0004482 | Relative macrocephaly | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0002591 | Polyphagia | |
| HP:0002650 | Scoliosis | |
| HP:0005978 | Type II diabetes mellitus | |
| Very rare (<4-1%) | ||
| HP:0000193 | Bifid uvula | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0007429 | Few cafe-au-lait spots | |
| HP:0002007 | Frontal bossing | |
| HP:0000238 | Hydrocephalus | |
| HP:0000307 | Pointed chin | |
| HP:0001988 | Recurrent hypoglycemia | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 26862943[PMID]_24891339[PMID]_1681108[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/254516
- This record as JSON: /data/d/254516.json