Flat face-microstomia-ear anomaly syndrome
historical
Synonyms: Blepharophimosis-telecanthus-microstomia syndrome · Simosa craniofacial syndrome · Simosa-Penchaszadeh-Bustos syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- historical
Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Flat face-microstomia-ear anomaly syndrome | Blepharophimosis-telecanthus-microstomia syndrome · Simosa craniofacial syndrome · Simosa-Penchaszadeh-Bustos syndrome |
| fr | Syndrome de face plate-microstomie-anomalie de l'oreille | Syndrome craniofacial de Simosa · Syndrome de blépharophimosis-télécanthus-microstomie |
| de | Flaches Gesicht-Mikrostomie-Ohranomalie-Syndrom | Blepharophimose-Telekanthus-Mikrostomie-Syndrom · Kraniofaziales Syndrom Simosa · Simosa-Penchaszadeh-Bustos-Syndrom |
| es | Síndrome de cara plana-microstomía-anomalías de las orejas | Síndrome craneofacial de Simosa · Síndrome de Simosa-Penchaszadeh-Bustos · Síndrome de blefarofimosis-telecanto-microstomía |
| it | Sindrome da viso appiattito, microstomia ed anomalie dell'orecchio | Blefarofimosi - telecanto - microstomia · Sindrome di Simosa |
| nl | Plat gelaat - microstomie - ooranomalie-syndroom | Blefarofimose - telecanthus - microstomie-syndroom · Craniofaciaal syndroom van Simosa · Syndroom van Simosa-Penchaszadeh-Bustos |
| pt | Síndrome de face plana-microstomia-anomalia do pavilhão auricular | Blefarofimose-telecanto-microstomia · Síndrome Simosa-Penchaszadeh-Bustos |
| pl | Płaska twarz - mikrostomia - wady uszu | Zespół Simosa'a, Penchaszadeha i Bustosa · Zwężenie szpary powiekowej - telekantus - mikrostomia |
| cs | Syndrom zahrnující plochý obličej, mikrostomii a anomálie ucha | Syndrom zahrnující blefarofimózu, telekantus a mikrostomii · Simosův-Penchaszadehův-Bustosové syndrom · Simosa-Penchaszadeh-Bustosové syndrom |
| uk | Синдром плаского обличчя-мікростомії-вушної аномалії | Синдром блефарофімозу-телекантрозу-мікростомії · Черепно-лицьовий синдром Симоса · Синдром Сімоса-Пенчасаде-Бустоса |
| zh | 扁平面-小口畸形-耳部异常综合征 | 睑裂狭小-内眦距过宽-小口畸形综合征 |
| tr | Düz yüz-mikrostomi-kulak anomalisi sendromu | Simosa kraniyofasiyal sendrom · Simosa-Penchaszadeh-Bustos sendromu · Blefarofimozis-telekantus-mikrostomi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 182150 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0008421 | E | validated | |
| MeSH | C537339 | E | validated | |
| UMLS | C1866962 | E | validated | |
| GARD | 4873 | 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 (2):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
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 | 2 cases | Worldwide | Case(s) | Validated | 2929657[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2929657[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
32 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009912 | Abnormal tragus morphology | |
| HP:0009738 | Abnormality of the antihelix | |
| HP:0009896 | Abnormality of the antitragus | |
| HP:0009906 | Aplasia/Hypoplasia of the earlobes | |
| HP:0000581 | Blepharophimosis | |
| HP:0000337 | Broad forehead | |
| HP:0010751 | Chin dimple | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0012368 | Flat face | |
| HP:0000348 | High forehead | |
| HP:0002705 | High, narrow palate | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0001611 | Hypernasal speech | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0000276 | Long face | |
| HP:0003189 | Long nose | |
| HP:0000343 | Long philtrum | |
| HP:0000400 | Macrotia | |
| HP:0000272 | Malar flattening | |
| HP:0000347 | Micrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0045075 | Sparse eyebrow | |
| HP:0000506 | Telecanthus | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0000023 | Inguinal hernia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0002650 | Scoliosis | |
| HP:0000046 | Small scrotum | |
| Occasional (29-5%) | ||
| HP:0011830 | Abnormal oral mucosa morphology | |
| HP:0100490 | Camptodactyly of finger | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1968
- This record as JSON: /data/d/1968.json