Ogden syndrome
Synonyms: Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ogden syndrome | Premature aging appearance-developmental delay-cardiac arrhythmia syndrome |
| fr | Syndrome d'Ogden | Syndrome d'aspect progérioïde-retard de développement-arythmie cardiaque |
| de | Ogden-Syndrom | Vorzeitige gealterte Erscheinung-Entwicklungsverzögerung-Herzrhythmusstörung-Syndrom |
| es | Síndrome de Ogden | Síndrome de aspecto envejecido prematuro-retraso del desarrollo-arritmia cardíaca |
| it | Sindrome di Ogden | Sindrome di Ogden |
| nl | Syndroom van Ogden | Vroegtijdige uiterlijke veroudering - ontwikkelingsachterstand - hartritmestoornis-syndroom |
| pt | Fenótipo envelhecido - anomalias craniofaciais - hipotonia - atraso de desenvolvimento - criptorquidia - arritmia cardíaca | |
| pl | Zespół przedwczesny starczy wygląd-opóźnienie rozwoju-arytmia serca | Zespół Ogdena |
| cs | Syndrom zahrnující předčasné stárnutí, opoždění vývoje a srdeční arytmie | Ogdenský syndrom |
| uk | Синдром Огдена | Синдром передчасного старіння - затримки розвитку - серцевої аритмії |
| zh | Ogden综合征 | 早衰外表-发育迟缓-心律失常综合征 |
| tr | Ogden sendromu | Erken yaşlanma görünümü-gelişme geriliği-kardiyak aritmi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300855 | E | validated | |
| ICD-10 | E34.8 | NTBT | attributed | validated |
| MONDO | 0010457 | E | validated | |
| UMLS | C3275447 | E | validated | |
| MedDRA | 10082376 | 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:363245Genetic progeroid syndrome
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:139033Progeroid syndrome
rare developmental anomalies during embryogenesis
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NAA10 | Disease-causing germline mutation(s) in | Assessed | HGNC:18704 | ENSG00000102030 | 300013 | Xq28 | N-alpha-acetyltransferase 10, NatA catalytic subunit | 21700266[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 21700266[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
41 annotations · validated 2018-06-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0010055 | Broad hallux | |
| HP:0002059 | Cerebral atrophy | |
| HP:0000270 | Delayed cranial suture closure | |
| HP:0001262 | Excessive daytime somnolence | |
| HP:0002213 | Fine hair | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0002650 | Scoliosis | |
| HP:0000473 | Torticollis | |
| Occasional (29-5%) | ||
| HP:0002457 | Abnormal head movements | |
| HP:0000290 | Abnormality of the forehead | |
| HP:0011675 | Arrhythmia | |
| HP:0000708 | Atypical behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0025104 | Capillary malformation | |
| HP:0030149 | Cardiogenic shock | |
| HP:0000280 | Coarse facial features | |
| HP:0000028 | Cryptorchidism | |
| HP:0000973 | Cutis laxa | |
| HP:0002194 | Delayed gross motor development | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0009931 | Enlarged naris | |
| HP:0010803 | Everted upper lip vermilion | |
| HP:0002007 | Frontal bossing | |
| HP:0002705 | High, narrow palate | |
| HP:0001276 | Hypertonia | |
| HP:0000023 | Inguinal hernia | |
| HP:0001254 | Lethargy | |
| HP:0000369 | Low-set ears | |
| HP:0000400 | Macrotia | |
| HP:0000308 | Microretrognathia | |
| HP:0000341 | Narrow forehead | |
| HP:0000520 | Proptosis | |
| HP:0004415 | Pulmonary artery stenosis | |
| HP:0002000 | Short columella | |
| HP:0002362 | Shuffling gait | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0001629 | Ventricular septal defect | |
| HP:0002119 | Ventriculomegaly | |
Annotation source: 21700266[PMID]_28967461[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/276432
- This record as JSON: /data/d/276432.json