Clinical Signs and Symptoms
ORPHA:1788 Acrofacial dysostosis, Rodríguez type
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.
- Hand oligodactyly HP:0001180
- Malar flattening HP:0000272
- Microretrognathia HP:0000308
- Microtia HP:0008551
- Prominent nasal bridge HP:0000426
Very frequent
- Abnormality of pelvic girdle bone morphology HP:0002644
- Aplasia/Hypoplasia of the radius HP:0006501
- Aplasia/Hypoplasia of the ulna HP:0006495
- Aqueductal stenosis HP:0002410
- Arrhinencephaly HP:0002139
- Fibular hypoplasia HP:0003038
- Malformation of the heart and great vessels HP:0002564
- Radioulnar synostosis HP:0002974
- Sprengel anomaly HP:0000912
Frequent
- Abnormal form of the vertebral bodies HP:0003312
- Abnormality of the uterus HP:0000130
- Finger syndactyly HP:0006101
- Intrauterine growth retardation HP:0001511
- Renal hypoplasia/aplasia HP:0008678
- Talipes equinovarus HP:0001762
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.