Phenotypes associated with the disease Richieri Costa-da Silva syndrome (ORPHA:3101):
- Pectus carinatum (HP:0000768): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3101)
- Profound intellectual disability (HP:0002187): Profound intellectual disability (ID) is defined as a type of ID characterized by profoundly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) below 20. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3101)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3101)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3101)
- Generalized bone demineralization (HP:0006462): A generalized decrease in bone mineral density. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3101)
- Intermittent painful muscle spasms (HP:0011964): History of repeated intermittent involuntary muscle contractions that were painful. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3101)
- Handgrip myotonia (HP:0012899): Difficulty releasing one's grip associated with prolonged first handgrip relaxation times. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3101)
- Myotonia of the upper limb (HP:0012903): Slowed relaxation of muscles in the arm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3101)
- Weak voice (HP:0001621): Reduced intensity (volume) of speech. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3101)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3101)
- Falls (HP:0002527). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3101)
- Skeletal muscle hypertrophy (HP:0003712): Abnormal increase in muscle size and mass not due to training. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3101)
- Decreased anterioposterior diameter of lumbar vertebral bodies (HP:0005638). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3101)
- Vertebral wedging (HP:0008422): An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3101)
- Distal lower limb muscle weakness (HP:0009053): Reduced strength of the distal musculature of the legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3101)
- EMG: myokymic discharges (HP:0100288): The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3101)
- Esotropia (HP:0000565): A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3101)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3101)
- Areflexia (HP:0001284): Absence of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3101)
- Metatarsus adductus (HP:0001840): The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3101)
- Inability to walk (HP:0002540): Incapability to ambulate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3101)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3101)
- Decreased muscle mass (HP:0003199). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3101)
- Beaking of vertebral bodies (HP:0004568): Anterior tongue-like protrusions of the vertebral bodies. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3101)
- Asymmetric limb muscle stiffness (HP:0007156): Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3101)
Not associated with this disease:
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: TAS. (ORPHA:3101)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: TAS. (ORPHA:3101)
- Low anterior hairline (HP:0000294): Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella. Evidence: TAS. (ORPHA:3101)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: TAS. (ORPHA:3101)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. (ORPHA:3101)
- Blepharophimosis (HP:0000581): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: TAS. (ORPHA:3101)
- Joint dislocation (HP:0001373): Displacement or malalignment of joints. Evidence: TAS. (ORPHA:3101)
- Limitation of joint mobility (HP:0001376): A reduction in the freedom of movement of one or more joints. Evidence: TAS. (ORPHA:3101)
- Diastasis recti (HP:0001540): A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba). Evidence: TAS. (ORPHA:3101)
- Abnormally high-pitched voice (HP:0001620): A persistent (minutes to hours) abnormal increase in the pitch (frequency) of the voice for the context or social situation or significantly different from baseline of the individual. Evidence: TAS. (ORPHA:3101)
- Flat face (HP:0012368): Absence of concavity or convexity of the face when viewed in profile. Evidence: TAS. (ORPHA:3101)