Carey-Fineman-Ziter syndrome
Synonyms: Myopathy-Moebius-Robin syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by non-specific or central hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), congenital myopathy, developmental delay and failure to thrive. Intellectual disability have also been reported in some patients. Variable clinical features may include macro/micro or plagiacephaly, facial dysmorphism, brain anomalies, septal defects, respiratory insufficiency, gastrointestinal problems including poor/absent swallowing, joint contactures, tapering fingers, clubfoot and scoliosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Carey-Fineman-Ziter syndrome | Myopathy-Moebius-Robin syndrome |
| fr | Syndrome de Carey-Fineman-Ziter | Syndrome de myopathie-séquence de Moebius-séquence de Robin |
| de | Carey-Fineman-Ziter-Syndrom | Myopathie-Moebius-Robin-Syndrom |
| es | Síndrome de Carey-Fineman-Ziter | Miopatía-síndrome de Moebius-Robin |
| it | Sindrome di Carey-Fineman-Ziter | Miopatia - sequenza di Moebius - sequenza di Robin |
| nl | Syndroom van Carey-Fineman-Ziter | Myopathie - Moebius - Robin-syndroom · Myopathie - Möbius - Robin-syndroom · Syndroom van myopathie met Moebius- en Robin-sequentie · Syndroom van myopathie met Möbius- en Robin-sequentie |
| pt | Síndrome Carey-Fineman-Ziter | Síndrome de miopatia-Moebius-Robin |
| pl | Zespół Carey'ego, Finemana i Zitera | Zespół miopatia - Moebius - Robin |
| cs | Careyův-Finemanův-Ziterův syndrom | Moebiův-Robinův syndrom s myopatií · Carey-Fineman-Ziterův syndrom · Moebius-Robinův syndrom s myopatií |
| uk | Синдром Кері-Файнмана-Зітера | Синдром міопатії-Мебіуса-Робіна |
| zh | Carey-Fineman-Ziter综合征 | 肌病-Moebius-Robin综合征 |
| tr | Carey-Fineman-Ziter sendromu | Miyopati-Moebius-Robin sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 254940 | E | validated | |
| OMIM | 619941 | BTNT | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0031415 | E | validated | |
| MeSH | C536102 | E | validated | |
| UMLS | C1850746 | E | validated | |
| GARD | 3889 | 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:97245Congenital myopathy
rare genetic diseases; rare neurological diseases - 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:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYMX | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:52391 | ENSG00000262179 | 619912 | 6p21.1 | myomixer, myoblast fusion factor | 35642635[PMID] |
| MYMK | Disease-causing germline mutation(s) in | Assessed | HGNC:33778 | ENSG00000187616 | 615345 | 9q34.2 | myomaker, myoblast fusion factor | 28681861[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 27232676[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27232676[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
36 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0010295 | Aplasia/Hypoplasia of the tongue | |
| HP:0001156 | Brachydactyly | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0010628 | Facial palsy | |
| HP:0001252 | Hypotonia | |
| HP:0000634 | Impaired ocular abduction | |
| HP:0000343 | Long philtrum | |
| HP:0000347 | Micrognathia | |
| HP:0000201 | Pierre-Robin sequence | |
| HP:0000508 | Ptosis | |
| HP:0003196 | Short nose | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0000233 | Thin vermilion border | |
| Frequent (79-30%) | ||
| HP:0000175 | Cleft palate | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0000162 | Glossoptosis | |
| HP:0001510 | Growth delay | |
| HP:0000218 | High palate | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| HP:0001762 | Talipes equinovarus | |
| Occasional (29-5%) | ||
| HP:0001600 | Abnormality of the larynx | |
| HP:0009751 | Aplasia of the pectoralis major muscle | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0002514 | Cerebral calcification | |
| HP:0000807 | Glandular hypospadias | |
| HP:0000126 | Hydronephrosis | |
| HP:0100735 | Hypertensive crisis | |
| HP:0001602 | Laryngeal stenosis | |
| HP:0003198 | Myopathy | |
| HP:0009465 | Ulnar deviation of finger | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1358
- This record as JSON: /data/d/1358.json