Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

A developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 23

HPO ID Term Frequency
HP:0000160 Narrow mouth Very frequent (99-80%)
HP:0000324 Facial asymmetry Very frequent (99-80%)
HP:0000325 Triangular face Very frequent (99-80%)
HP:0000337 Broad forehead Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0000400 Macrotia Very frequent (99-80%)
HP:0000426 Prominent nasal bridge Very frequent (99-80%)
HP:0000444 Convex nasal ridge Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0000670 Carious teeth Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0002623 Overriding aorta Very frequent (99-80%)
HP:0002714 Downturned corners of mouth Very frequent (99-80%)
HP:0012303 Abnormal aortic arch morphology Very frequent (99-80%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0100026 Arteriovenous malformation Frequent (79-30%)
HP:0000303 Mandibular prognathia Occasional (29-5%)
HP:0000708 Behavioral abnormality Occasional (29-5%)
HP:0001252 Muscular hypotonia Occasional (29-5%)
HP:0001511 Intrauterine growth retardation Occasional (29-5%)
HP:0002970 Genu varum Occasional (29-5%)
HP:0003272 Abnormality of the hip bone Occasional (29-5%)
HP:0010669 Hypoplasia of the zygomatic bone Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID