Trigonocephaly-short stature-developmental delay syndrome
historical
Synonyms: Say-Meyer syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- No data available
- Status
- historical
A rare syndromic craniosynostosis characterized by trigonocephaly prominent metopic ridge, short stature, and developmental delay. Dysmorphic features may also include narrow forehead with bitemporal narrowing, arched eyebrows, deep-set eyes, epicanthal folds, hypotelorism, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (including brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures. There have been no further descriptions in the literature since 1981.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Trigonocephaly-short stature-developmental delay syndrome | Say-Meyer syndrome |
| fr | Syndrome de trigonocéphalie-petite taille-retard de croissance | Syndrome de Say-Meyer |
| de | Trigonozephalie-Kleinwuchs-Entwicklungsverzögerung-Syndrom | Say-Meyer-Syndrom |
| es | Síndrome de trigonocefalia-talla baja-retraso de crecimiento | Síndrome de Say-Meyer |
| it | Sindrome trigonocefalia-bassa statura-ritardo dello sviluppo | Sindrome di Say-Meyer |
| nl | Trigonocefalie - kleine gestalte - ontwikkelingsachterstand-syndroom | Syndroom van Say-Meyer |
| pt | Síndrome de trigonocefalia-baixa estatura-perturbação do desenvolvimento | Síndrome Say-Meyer |
| pl | Trigonocefalia - niski wzrost - opóźnienie w rozwoju | Zespół Say'a i Meyera |
| cs | Syndrom zahrnující trigonocefalii, nízký vzrůst a opoždění vývoje | Sayův-Meyerův syndrom · Say-Meyerův syndrom |
| uk | Синдром тригоноцефалії-низькорослості-затримки розвитку | Синдром Сай-Мейєра |
| zh | 三角头畸形-矮小-发育迟缓综合征 | Say-Meyer综合征 |
| tr | Trigonosefali-kısa boy-gelişme geriliği sendromu | Say-Meyer sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 314320 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0010749 | E | validated | |
| MeSH | C536620 | E | validated | |
| UMLS | C1839125 | E | validated | |
| GARD | 243 | 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:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 6168197[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6168197[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
23 annotations · validated 2017-11-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | Diagnostic criterion |
| HP:0004322 | Short stature | Diagnostic criterion |
| HP:0000243 | Trigonocephaly | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0000216 | Broad secondary alveolar ridge | |
| HP:0000444 | Convex nasal ridge | |
| HP:0000286 | Epicanthus | |
| HP:0005769 | Fifth finger distal phalanx clinodactyly | |
| HP:0000218 | High palate | |
| HP:0000601 | Hypotelorism | |
| HP:0000023 | Inguinal hernia | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0005495 | Metopic suture patent to nasal root | |
| HP:0011324 | Multiple suture craniosynostosis | |
| HP:0000341 | Narrow forehead | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0005494 | Premature posterior fontanelle closure | |
| HP:0005484 | Secondary microcephaly | |
| HP:0001250 | Seizure | |
| HP:0000237 | Small anterior fontanelle | |
| HP:0001518 | Small for gestational age | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000431 | Wide nasal bridge | |
Annotation source: 6168197[PMID]_1271432[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3369
- This record as JSON: /data/d/3369.json