Isotretinoin-like syndrome

MedGen UID:: 96600
•Concept ID:: C0432364
•: Disease or Syndrome

Synonyms:	Isotretinoin embryopathy like syndrome; Microtia aortic arch syndrome; Syndrome of microtia and aortic arch anomalies
SNOMED CT:	Isotretinoin-like syndrome (722006004); Kawashima syndrome (722006004); Microtia aortic arch syndrome (722006004); Isotretinoin embryopathy-like syndrome (722006004)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). X-linked recessive inheritance MedGen UID: 375779 •Concept ID: C1845977 • Finding Source: Orphanet A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. See: This record Autosomal recessive inheritance (Orphanet) X-linked recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0009473
OMIM®:	243440
Orphanet:	ORPHA2306

Definition

Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. It has been described in six male patients, three of them being siblings born to nonconsanguineous parents. It has characteristics of the same anomalies as those described after maternal treatment with the drug isotretinoin: 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). As the syndrome has only been reported in males, X-linked recessive inheritance is possible but autosomal recessive inheritance cannot be ruled out. [from SNOMEDCT_US]

Clinical features

From HPO

Conotruncal defect

MedGen UID:: 342828
•Concept ID:: C1853238
•: Congenital Abnormality

A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle.

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Microtia

MedGen UID:: 57535
•Concept ID:: C0152423
•: Congenital Abnormality

Underdevelopment of the external ear.

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Anotia

MedGen UID:: 152377
•Concept ID:: C0702139
•: Congenital Abnormality

Complete absence of any auricular structures.

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Hydrocephalus

MedGen UID:: 9335
•Concept ID:: C0020255
•: Disease or Syndrome

Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.

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Micrognathia

MedGen UID:: 44428
•Concept ID:: C0025990
•: Congenital Abnormality

Developmental hypoplasia of the mandible.

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Abnormal posterior cranial fossa morphology

MedGen UID:: 482398
•Concept ID:: C3280768
•: Finding

An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum.

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Cleft palate

MedGen UID:: 756015
•Concept ID:: C2981150
•: Congenital Abnormality

Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).

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