loading...| Preferred Name | Camptodactyly tall stature and hearing loss syndrome | |
| Synonyms |
CATSHL syndrome |
|
| Definitions |
(CATSHL syndrome) - Autosomal dominant syndrome characterized by permanent and irreducible flexion of one or more fingers of the hand and|or feet, tall stature, scoliosis and|or a pectus excavatum, and hearing loss. Affected individuals have developmental delay and|or mental retardation, and several of these have microcephaly. Radiographic findings included tall vertebral bodies with irregular borders and broad femoral metaphyses with long tubular shafts. On audiological exam, each tested member have bilateral sensorineural hearing loss and absent otoacoustic emissions. The hearing loss was congenital or developed in early infancy, progressed variably in early childhood, and range from mild to severe. Computed tomography and magnetic resonance imaging reveal that the brain, middle ear, and inner ear are structurally normal. |
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| ID |
http://identifiers.org/omim/610474 |
|
| altLabel |
CATSHL syndrome |
|
| definition |
(CATSHL syndrome) - Autosomal dominant syndrome characterized by permanent and irreducible flexion of one or more fingers of the hand and|or feet, tall stature, scoliosis and|or a pectus excavatum, and hearing loss. Affected individuals have developmental delay and|or mental retardation, and several of these have microcephaly. Radiographic findings included tall vertebral bodies with irregular borders and broad femoral metaphyses with long tubular shafts. On audiological exam, each tested member have bilateral sensorineural hearing loss and absent otoacoustic emissions. The hearing loss was congenital or developed in early infancy, progressed variably in early childhood, and range from mild to severe. Computed tomography and magnetic resonance imaging reveal that the brain, middle ear, and inner ear are structurally normal. |
|
| id |
OMIM:610474 |
|
| notation |
OMIM:610474 |
|
| prefLabel |
Camptodactyly tall stature and hearing loss syndrome |
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| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://identifiers.org/omim/610474 | REXO | SAME_URI | |
| http://identifiers.org/omim/610474 | GEXO | SAME_URI | |
| http://purl.obolibrary.org/obo/OMIM_610474 | CCO | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/610474 | OMIM | LOOM | |
| http://purl.org/skeletome/bonedysplasia#Camptodactyly_tall_stature_and_hearing_loss_syndrome | BDO | LOOM | |
| http://identifiers.org/omim/610474 | REXO | LOOM | |
| http://identifiers.org/omim/610474 | GEXO | LOOM |