Faciocardiorenal syndrome

Preferred Label : Faciocardiorenal syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Eastman-bixler syndrome;

Description : Eastman and Bixler (1977) described a seemingly 'new' syndrome of which the major components are horseshoe kidneys, severe mental retardation, characteristic facies (broad nasal bridge, large chin, open mouth), and heart defect (conduction defects, cardiac enlargement, endocardial fibroelastosis). Two brothers and a sister were affected. The interpretation of the pedigree was complicated by the fact that a possibly independent, dominant neurologic disorder was also segregating in the family: the father, paternal uncle and paternal grandmother had what the authors termed a static peripheral neuropathy. However, the clinical features included hyperactive deep tendon reflexes in the legs, ankle clonus, and bilateral Babinski reflexes. Nevin et al. (1991) described this syndrome in a 5-year-old boy who also had isolated growth hormone deficiency which responded successfully to treatment. *FIELD* RF 1. Eastman, J. R.; Bixler, D.: Facio-cardio-renal syndrome: a newly delineated recessive disorder. Clin. Genet. 11: 424-430, 1977. 2. Nevin, N. C.; Hill, A. E.; Carson, D. J.: Facio-cardio-renal (Eastman-Bixler) syndrome. Am. J. Med. Genet. 40: 31-33, 1991. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : 227280;

Details

Origin ID

227280;

UMLS CUI

C0795936;

Currated CISMeF NLP mapping
- Faciocardiorenal syndrome [MeSH concept]
- Faciocardiorenal syndrome [ORDO Disease]
- Faciocardiorenal syndrome (disorder) [SNOMED CT concept]
- faciocardiorenal syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Broad hallux [HPO term]
- Broad nasal root [HPO term]
- Cleft palate [HPO term]
- Clinodactyly [HPO term]
- Cryptorchidism [HPO term]
- Decreased muscle mass [HPO term]
- Endocardial fibroelastosis [HPO term]
- Horseshoe kidney [HPO term]
- Hydroureter [HPO term]
- Hypodontia [HPO term]
- Hypoplastic philtrum [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Microtia [HPO term]
- Microtia [HPO term]
- Nevus [HPO term]
- Plagiocephaly [HPO term]
- Scoliosis [HPO term]
- Small nail [HPO term]
- Toe syndactyly [HPO term]
- Waddling gait [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Faciocardiorenal syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Faciocardiorenal syndrome [ORDO Disease]
- Faciocardiorenal syndrome [MeSH concept]
- Faciocardiorenal syndrome (disorder) [SNOMED CT concept]
- faciocardiorenal syndrome [MeSH Supplementary Concept]

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