Isotretinoin-like syndrome
Synonyms: Kawashima syndrome · Microtia-aortic arch syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including small, malformed or missing ears, micrognathia, and cleft palate), conotruncal heart defects, aortic arch anomalies, and central nervous system anomalies including hydrocephalus and posterior fossa abnormalities. Clinical features overlap with isotretinoin syndrome/isotretinoin embryopathy, occurs following maternal treatment with isotretinoin, however these patients have no prenatal history of exposure to isotretinoin.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isotretinoin-like syndrome | Kawashima syndrome · Microtia-aortic arch syndrome |
| fr | Syndrome isotretinoïne-like | Syndrome de Kawashima · Syndrome de microtie-anomalie de la crosse aortique |
| de | Isotretinoin-ähnliches-Syndrom | Kawashima-Syndrom · Mikrotie - Aortenbogensyndrom |
| es | Síndrome similar al síndrome por isotretinoina | Síndrome de isotretinoina-like |
| it | Sindrome isotretinoina-simile | Microtia - anomalia dell'arco aortico · Sindrome di Kawashima |
| nl | Isotretinoïne-achtig syndroom | Kawashimasyndroom · Microtie-aortaboogsyndroom |
| pt | Síndrome isotretinoina-<i>like | Síndrome Kawashima · Síndrome de microtia-síndrome do arco aórtico |
| pl | Zespół pseudo-izotretynoinowy | Zespół Kawashima · Zespół małe uszy - łuk aorty |
| cs | Syndrom podobný izotretinoinovému syndromu | Kawashimové syndrom · Syndrom zahrnující mikrocii a aortální oblouk |
| uk | Ізотретиноїноподібний синдром | Синдром Кавасіми · Синдром мікротії дуги аорти |
| zh | 类异维甲酸综合征 | 小耳畸形-主动脉弓综合征 |
| tr | İzotretinoin benzeri sendrom | Kawashima sendromu · Mikroti-aortik ark sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 243440 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009473 | E | validated | |
| MeSH | C535542 | E | validated | |
| UMLS | C0432364 | E | validated | |
| GARD | 9675 | 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: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
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 | 6 cases | Worldwide | Case(s) | Validated | 15602090[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15602090[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
30 annotations · validated 2017-10-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008551 | Microtia | |
| Frequent (79-30%) | ||
| HP:0012303 | Abnormal aortic arch morphology | |
| HP:0005120 | Abnormal cardiac atrium morphology | |
| HP:0001713 | Abnormal cardiac ventricle morphology | |
| HP:0000932 | Abnormality of the posterior cranial fossa | |
| HP:0011718 | Abnormality of the pulmonary veins | |
| HP:0000463 | Anteverted nares | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0008774 | Aplasia/Hypoplasia of the inner ear | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0001647 | Bicuspid aortic valve | |
| HP:0008619 | Bilateral sensorineural hearing impairment | |
| HP:0000175 | Cleft palate | |
| HP:0001710 | Conotruncal defect | |
| HP:0011968 | Feeding difficulties | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000238 | Hydrocephalus | |
| HP:0000023 | Inguinal hernia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0011342 | Mild global developmental delay | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0005301 | Persistent left superior vena cava | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0000384 | Preauricular skin tag | |
| HP:0000582 | Upslanted palpebral fissure | |
| Occasional (29-5%) | ||
| HP:0009892 | Anotia | |
| Excluded (0%) | ||
| HP:0002901 | Hypocalcemia | |
| HP:0001888 | Lymphopenia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 12548746[PMID]_15602090[PMID]_3478461[PMID]_6587131[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2306
- This record as JSON: /data/d/2306.json