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Start free with EleplanIsotretinoin-like syndrome
ORPHA:2306Malformation syndrome
Also called Kawashima syndrome · Microtia-aortic arch syndrome
What it is
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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive, X-linked recessive
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
26- Abnormal aortic arch morphology
- Abnormal cardiac atrium morphology
- Abnormal cardiac ventricle morphology
- Abnormality of the posterior cranial fossa
- Abnormality of the pulmonary veins
- Anteverted nares
- Aortic valve stenosis
- Aplasia/Hypoplasia of the inner ear
- Atresia of the external auditory canal
- Bicuspid aortic valve
- Bilateral sensorineural hearing impairment
- Cleft palate
- Conotruncal defect
- Feeding difficulties
- Gastroesophageal reflux
- Hydrocephalus
- Inguinal hernia
- Intrauterine growth retardation
- Microcephaly
- Micrognathia
- Mild global developmental delay
- Patent ductus arteriosus
- Persistent left superior vena cava
- Postnatal growth retardation
- Preauricular skin tag
- Upslanted palpebral fissure
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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