Rudiger syndrome

Preferred Label : Rudiger syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Rudiger et al. (1971) described a brother and sister with coarse facies, prominent forehead, flat nasal bridge, stubby nose, and protuberant upper lip. They both had low-pitched, hoarse voices, short digits, palmar flexion contractures, hypoplastic fingernails, and bilateral ureterovesical stenosis. The female had bicornuate uterus and cystic ovaries. The male had a small penis and large inguinal hernias. Both had bilateral simian creases. A high axial triradius and simple arches on all digits were found. Both children died in early infancy. There are some similarities to the hand-foot-uterus syndrome (140000) and to camptobrachydactyly (114150). *FIELD* RF 1. Rudiger, R. A.; Schmidt, W.; Loose, D. A.; Passarge, E.: Severe developmental failure with coarse facial features, distal limb hypoplasia, thickened palmar creases, bifid uvula, and ureteral stenosis: a previously unidentified familial disorder with lethal outcome. J. Pediat. 79: 977-981, 1971. *FIELD* CS;

Inheritance : Autosomal recessive;

Prefixed ID : 268650;

Details

Origin ID

268650;

UMLS CUI

C0406704;

Currated CISMeF NLP mapping
- Ectrodactyly-ectodermal dysplasia-clefting syndrome (disorder) [SNOMED CT concept]
- Rudiger syndrome [ORDO Disease]
- rudiger syndrome [MeSH concept]
- rudiger syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bicornuate uterus [HPO term]
- Coarse facial features [HPO term]
- Death in infancy [HPO term]
- Depressed nasal bridge [HPO term]
- Flattened nasal bridge [HPO term]
- Flexion contracture [HPO term]
- Frontal bossing [HPO term]
- High axial triradius [HPO term]
- Hoarse voice [HPO term]
- Hypoplastic fingernail [HPO term]
- Inguinal hernia [HPO term]
- Micropenis [HPO term]
- Ovarian cyst [HPO term]
- Prominent forehead [HPO term]
- Short digit [HPO term]
- Single transverse palmar crease [HPO term]
- Ureterovesical stenosis [HPO term]
ORDO concept(s)
- Rudiger syndrome [ORDO Disease]
See also inter- (CISMeF)
- ectrodactyly ectodermal dysplasia cleft syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- EEC syndrome [ORDO Disease]
- EEC syndrome [DO Concept]
- Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome [NCIt concept]
- Ectrodactyly-cleft lip-palate syndrome [MeSH Supplementary Concept]
- Ectrodactyly-cleft lip-palate syndrome [MeSH concept]
- Ectrodactyly-ectodermal dysplasia-clefting syndrome (disorder) [SNOMED CT concept]
- ectrodactyly ectodermal dysplasia cleft syndrome [Disease (Nov.)]
- ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 [DO Concept]
- ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [DO Concept]
- ectrodactyly-ectodermal dysplasia-clefting syndrome [SNOMED Notion]

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