Cryptorchidism-arachnodactyly-intellectual disability syndrome (original) (raw)
Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare multi-systemic genetic disorder of unknown prevalence which is characterized by psycho-motor developmental delay, severe intellectual disabilities, severe muscle hypoplasia, absence of subcutaneous fat, generalized contractures, dolichocephaly, esotropia, asymmetric ears, and high palate, kyphoscoliosis, unilateral hypoplasia of the bronchial system, recurrent respiratory tract infections, atelectasis, arachnodactyly, cryptorchidism, hypospadias, and testicular agenesis. No new cases have been reported since 1970.
| Property | Value |
|---|---|
| dbo:abstract | Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare multi-systemic genetic disorder of unknown prevalence which is characterized by psycho-motor developmental delay, severe intellectual disabilities, severe muscle hypoplasia, absence of subcutaneous fat, generalized contractures, dolichocephaly, esotropia, asymmetric ears, and high palate, kyphoscoliosis, unilateral hypoplasia of the bronchial system, recurrent respiratory tract infections, atelectasis, arachnodactyly, cryptorchidism, hypospadias, and testicular agenesis. No new cases have been reported since 1970. (en) |
| dbo:wikiPageID | 70910816 (xsd:integer) |
| dbo:wikiPageLength | 2767 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID | 1094927967 (xsd:integer) |
| dbo:wikiPageWikiLink | dbr:Developmental_delay dbr:Arachnodactyly dbr:Hypospadias dbr:Cryptorchidism dbr:Esotropia dbr:Genetic_disorder dbr:Medical_genetics dbr:Dolichocephaly dbc:Genetic_diseases_and_disorders dbr:Arthrogryposis dbr:Kyphoscoliosis dbr:Intellectual_disabilities |
| dbp:frequency | unknown (en) |
| dbp:name | Cryptorchidism-arachnodactyly-intellectual disabilities syndrome (en) |
| dbp:prevention | none (en) |
| dbp:specialty | dbr:Medical_genetics |
| dbp:symptoms | respiratory, limb and lung abnormalities with developmental delay and intellectual disabilities (en) |
| dbp:wikiPageUsesTemplate | dbt:Orphan dbt:Reflist dbt:Infobox_medical_condition |
| dcterms:subject | dbc:Genetic_diseases_and_disorders |
| rdf:type | owl:Thing wikidata:Q12136 dbo:Disease |
| rdfs:comment | Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare multi-systemic genetic disorder of unknown prevalence which is characterized by psycho-motor developmental delay, severe intellectual disabilities, severe muscle hypoplasia, absence of subcutaneous fat, generalized contractures, dolichocephaly, esotropia, asymmetric ears, and high palate, kyphoscoliosis, unilateral hypoplasia of the bronchial system, recurrent respiratory tract infections, atelectasis, arachnodactyly, cryptorchidism, hypospadias, and testicular agenesis. No new cases have been reported since 1970. (en) |
| rdfs:label | Cryptorchidism-arachnodactyly-intellectual disability syndrome (en) |
| owl:sameAs | wikidata:Cryptorchidism-arachnodactyly-intellectual disability syndrome https://global.dbpedia.org/id/GSHZE |
| prov:wasDerivedFrom | wikipedia-en:Cryptorchidism-arachnodactyly-intellec...bility_syndrome?oldid=1094927967&ns=0 |
| foaf:isPrimaryTopicOf | wikipedia-en:Cryptorchidism-arachnodactyly-intellectual_disability_syndrome |
| is foaf:primaryTopic of | wikipedia-en:Cryptorchidism-arachnodactyly-intellectual_disability_syndrome |