PedAM
Pediatric Disease Annotations & Medicines
| ruvalcaba syndrome | ||||
| Disease ID | 1379 |
|---|---|
| Disease | ruvalcaba syndrome |
| Definition | Ruvalcaba syndrome is a rare inherited disorder characterized by short stature, abnormalities affecting the head and facial (craniofacial) area, mental retardation, skeletal malformations, and/or underdeveloped (hypoplastic) genitalia. Characteristic craniofacial features include an abnormally small head (microcephaly), an abnormally small, narrow nose; and down-slanting eyelid folds (palpebral fissures). Skeletal malformations may include fifth fingers that are permanently fixed in a bent position (clinodactyly) and/or abnormally short bones between the wrists and the fingers (metacarpals) and the ankles and toes (metatarsals), resulting in unusually small hands and feet. In addition, affected children may have abnormal side-to-side curvature of the spine (scoliosis) and/or unusual prominence of the breastbone (pectus carinatum). Ruvalcaba syndrome is inherited as an autosomal dominant genetic trait. - NORD Reference: NORD |
| Synonym | ruvalcaba syndrome (disorder) |
| Orphanet | |
| OMIM | |
| UMLS | C0265248 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1379 |
|---|---|
| Disease | ruvalcaba syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:53) HP:0002808 | Kyphosis HP:0100542 | Abnormal localization of kidney HP:0004322 | Stature below 3rd percentile HP:0001053 | Hypopigmented skin patches HP:0000823 | Delayed puberty HP:0002230 | Generalized hirsutism HP:0002808 | Gibbus deformity HP:0002983 | Micromelia HP:0009811 | Abnormality of the elbow HP:0010049 | Short metacarpal HP:0001263 | Global developmental delay HP:0000556 | Retinal dystrophy HP:0001377 | Restricted elbow extension HP:0000774 | Narrow chest HP:0000678 | Dental crowding HP:0001156 | Brachydactyly syndrome HP:0001249 | Mental retardation HP:0100734 | Abnormality of vertebral epiphysis morphology HP:0003196 | Short nose HP:0000649 | Abnormality of visual evoked potentials HP:0001250 | Seizures HP:0010743 | Shortened metatarsals HP:0005048 | Synostosis of carpal bones HP:0004209 | Clinodactyly of the 5th finger HP:0010049 | Metacarpal hypoplasia HP:0000252 | Small head circumference HP:0000508 | Ptosis HP:0009623 | Proximal placement of thumb HP:0009803 | Hypoplastic/small phalanges of the hand HP:0000494 | Downward slanting palpebral fissures HP:0000769 | Abnormality of the breast HP:0000348 | High forehead HP:0000028 | Cryptorchidism HP:0000768 | Pectus carinatum HP:0000790 | Hematuria HP:0001773 | Small feet HP:0000023 | Inguinal hernia HP:0000823 | Pubertal delay HP:0004279 | Hypoplastic hands HP:0000444 | Convex nasal ridge HP:0001511 | Intrauterine growth retardation HP:0002650 | Scoliosis HP:0000494 | Downslanted palpebral fissures HP:0000774 | Low chest circumference HP:0000252 | Microcephaly HP:0000460 | Decreased nasal breadth HP:0001249 | Intellectual disability HP:0000512 | Abnormal electroretinogram HP:0000160 | Narrow mouth HP:0200055 | Small hand HP:0000430 | Nasal cartilage hypoplasia HP:0010579 | Cone-shaped epiphysis HP:0000233 | Thin vermilion border |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1379 |
|---|---|
| Disease | ruvalcaba syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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All Snps(Total Genotypes:0) | |
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GWASdb Annotation(Total Genotypes:0) | |
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GWASdb Snp Trait(Total Genotypes:0) | |
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Mapped by lexical matching(Total Items:0) |
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Mapped by homologous gene(Total Items:0) |
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Chemical(Total Drugs:0) | |
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FDA approved drug and dosage information(Total Drugs:0) | |
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FDA labeling changes(Total Drugs:0) | |
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