MCID: IST007
MIFTS: 24

Isotretinoin Embryopathy-Like Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Isotretinoin Embryopathy-Like Syndrome

MalaCards integrated aliases for Isotretinoin Embryopathy-Like Syndrome:

Name: Isotretinoin Embryopathy-Like Syndrome 56
Isotretinoin Embryopathy Like Syndrome 52 29 71
Microtia-Aortic Arch Syndrome 56 58
Syndrome of Microtia and Aortic Arch Anomalies 52
Microtia Aortic Arch Syndrome 52
Isotretinoin-Like Syndrome 58
Kawashima Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
isotretinoin-like syndrome
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
isotretinoin embryopathy-like syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Isotretinoin Embryopathy-Like Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2306 Definition Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. Epidemiology It has been described in six male patients, three of them being sibs born to nonconsanguineous parents. Clinical description It is characterized by the same anomalies as those described after maternal treatment with the drug isotretinoin (a vitamin A analog used for treatment of acne): malformations of the face (small, malformed, or missing ears, micrognathia , cleft palate ), conotruncal heart defects, aortic arch anomalies, and central nervous system anomalies (hydrocephalus and posterior fossa abnormalities). Etiology The etiology is unknown. Diagnostic methods Diagnosis may be suspected in patients with a conotruncal heart and ear anomalies. Computed tomography of the temporal bone may reveal agenesis of the external auditory canals and bilateral ossicular chain abnormalities. Antenatal diagnosis Prenatal diagnosis may be performed by ultrasonography with careful examination of facial and cardiac structures. Genetic counseling As the syndrome has only been reported in males, X-linked recessive inheritance is possible, but autosomal recessive inheritance cannot be ruled out. Prognosis Survival may be influenced by the severity of the heart defect and no data are available on long term prognosis. Visit the Orphanet disease page for more resources.

MalaCards based summary : Isotretinoin Embryopathy-Like Syndrome, also known as isotretinoin embryopathy like syndrome, is related to fetal retinoid syndrome and isotretinoin syndrome. Affiliated tissues include heart, bone and skin, and related phenotypes are microtia and hydrocephalus

More information from OMIM: 243440

Related Diseases for Isotretinoin Embryopathy-Like Syndrome

Diseases related to Isotretinoin Embryopathy-Like Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fetal retinoid syndrome 11.7
2 isotretinoin syndrome 11.7
3 microtia 10.2

Symptoms & Phenotypes for Isotretinoin Embryopathy-Like Syndrome

Human phenotypes related to Isotretinoin Embryopathy-Like Syndrome:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
2 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
3 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
4 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
5 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
6 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
7 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
8 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
9 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
10 patent ductus arteriosus 58 31 frequent (33%) Frequent (79-30%) HP:0001643
11 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
12 bicuspid aortic valve 58 31 frequent (33%) Frequent (79-30%) HP:0001647
13 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
14 preauricular skin tag 58 31 frequent (33%) Frequent (79-30%) HP:0000384
15 atresia of the external auditory canal 58 31 frequent (33%) Frequent (79-30%) HP:0000413
16 mild global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011342
17 aortic valve stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0001650
18 persistent left superior vena cava 58 31 frequent (33%) Frequent (79-30%) HP:0005301
19 abnormality of the posterior cranial fossa 58 31 frequent (33%) Frequent (79-30%) HP:0000932
20 bilateral sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0008619
21 conotruncal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001710
22 abnormal cardiac ventricle morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001713
23 thin anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0004495
24 abnormal cardiac atrium morphology 58 31 frequent (33%) Frequent (79-30%) HP:0005120
25 aplasia/hypoplasia of the inner ear 58 31 frequent (33%) Frequent (79-30%) HP:0008774
26 abnormality of the pulmonary veins 58 31 frequent (33%) Frequent (79-30%) HP:0011718
27 abnormal aortic arch morphology 31 frequent (33%) HP:0012303
28 anotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0009892
29 hypocalcemia 58 Excluded (0%)
30 lymphopenia 58 Excluded (0%)
31 abnormality of the aortic arch 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Neuro:
hydrocephalus
posterior fossa anomaly

Cardiac:
conotruncal defect
aortic arch anomaly

H E E N T:
micrognathia
cleft palate
small ears
malformed ears
absent ears

Clinical features from OMIM:

243440

Drugs & Therapeutics for Isotretinoin Embryopathy-Like Syndrome

Search Clinical Trials , NIH Clinical Center for Isotretinoin Embryopathy-Like Syndrome

Genetic Tests for Isotretinoin Embryopathy-Like Syndrome

Genetic tests related to Isotretinoin Embryopathy-Like Syndrome:

# Genetic test Affiliating Genes
1 Isotretinoin Embryopathy Like Syndrome 29

Anatomical Context for Isotretinoin Embryopathy-Like Syndrome

MalaCards organs/tissues related to Isotretinoin Embryopathy-Like Syndrome:

40
Heart, Bone, Skin

Publications for Isotretinoin Embryopathy-Like Syndrome

Articles related to Isotretinoin Embryopathy-Like Syndrome:

# Title Authors PMID Year
1
A new syndrome within the oculo-auriculo-vertebral spectrum: microtia, atresia of the external auditory canal, vertebral anomaly, and complex cardiac defects. 56
15602090 2005
2
Aural atresia, microtia, complex heart defect, and hearing loss syndrome: additional case. 56
12548746 2003
3
Syndrome of microtia and aortic arch anomalies resembling isotretinoin embryopathy. 56
3478461 1987
4
Retinoic acid embryopathy. 56
3162101 1985
5
Fetal hydrocephalus and ear anomalies associated with maternal use of isotretinoin. 56
6237184 1984
6
The isotretinoin teratogen syndrome. 56
6587131 1984
7
Isotretinoin dysmorphic syndrome. 56
6142222 1984
8
Development of canal cholesteatoma in a patient with prenatal isotretinoin exposure. 61
20638138 2010

Variations for Isotretinoin Embryopathy-Like Syndrome

Expression for Isotretinoin Embryopathy-Like Syndrome

Search GEO for disease gene expression data for Isotretinoin Embryopathy-Like Syndrome.

Pathways for Isotretinoin Embryopathy-Like Syndrome

GO Terms for Isotretinoin Embryopathy-Like Syndrome

Sources for Isotretinoin Embryopathy-Like Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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