Clinical Signs and Symptoms
ORPHA:3101 Richieri Costa-da Silva 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.
- Generalized bone demineralization HP:0006462
- Handgrip myotonia HP:0012899
- Intellectual disability, profound HP:0002187
- Intermittent painful muscle spasms HP:0011964
- Kyphoscoliosis HP:0002751
- Myotonia of the upper limb HP:0012903
- Pectus carinatum HP:0000768
- Short stature HP:0004322
Very frequent
- Decreased anterioposterior diameter of lumbar vertebral bodies HP:0005638
- Distal lower limb muscle weakness HP:0009053
- Dysphagia HP:0002015
- EMG: myokymic discharges HP:0100288
- Falls HP:0002527
- Skeletal muscle hypertrophy HP:0003712
- Vertebral wedging HP:0008422
- Weak voice HP:0001621
Frequent
- Areflexia HP:0001284
- Asymmetric limb muscle stiffness HP:0007156
- Beaking of vertebral bodies HP:0004568
- Decreased muscle mass HP:0003199
- Esotropia HP:0000565
- Genu valgum HP:0002857
- Hyporeflexia HP:0001265
- Inability to walk HP:0002540
- Metatarsus adductus HP:0001840
Occasional
- Abnormality of the dentition HP:0000164
- Blepharophimosis HP:0000581
- Diastasis recti HP:0001540
- Flat face HP:0012368
- High pitched voice HP:0001620
- Joint dislocation HP:0001373
- Limitation of joint mobility HP:0001376
- Low anterior hairline HP:0000294
- Low-set ears HP:0000369
- Narrow mouth HP:0000160
- Short neck HP:0000470
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.