Clinical Signs and Symptoms
ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormality of the aortic arch HP:0012303
- Broad forehead HP:0000337
- Carious teeth HP:0000670
- Convex nasal ridge HP:0000444
- Downslanted palpebral fissures HP:0000494
- Downturned corners of mouth HP:0002714
- Facial asymmetry HP:0000324
- Intellectual disability HP:0001249
- Low-set, posteriorly rotated ears HP:0000368
- Macrotia HP:0000400
- Narrow mouth HP:0000160
- Overriding aorta HP:0002623
- Prominent nasal bridge HP:0000426
- Triangular face HP:0000325
Very frequent
- Arteriovenous malformation HP:0100026
- Microcephaly HP:0000252
Frequent
- Abnormality of the hip bone HP:0003272
- Behavioral abnormality HP:0000708
- Genu varum HP:0002970
- Hypoplasia of the zygomatic bone HP:0010669
- Intrauterine growth retardation HP:0001511
- Mandibular prognathia HP:0000303
- Muscular hypotonia HP:0001252
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.