Loeys-dietz syndrome 5

Preferred Label : Loeys-dietz syndrome 5;

Symbol : LDS5;

CISMeF acronym : LDS5; RNHF;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : RNHF; Rienhoff syndrome;

Description : Rienhoff (pronounced REENhoff) syndrome is a congenital syndrome characterized by abnormal development of several mesenchymal-derived tissues, including muscle and craniopalatofacial structures, accompanied by low muscle mass, growth retardation, distal arthrogryposis, and other secondary changes. The syndrome shares some clinical features with known syndromes that enhance TGF-beta signaling, such as the Marfan (see 154700) and Loeys-Dietz (see 609192) syndromes, including arachnodactyly, pectus excavatum, pes planus, and hyperextensible large joints, as well as hypertelorism and bifid uvula; however, there is no evidence of vascular disease (summary by Rienhoff et al., 2013).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the beta-3 transforming growth factor gene (TGFB3, 190230.0003);

Prefixed ID : #615582;

Details

Origin ID

615582;

UMLS CUI

C3810012;

Automatic exact mappings (from CISMeF team)
- Transforming Growth Factor Beta 3 Measurement [NCIt concept]
Currated CISMeF NLP mapping
- Loeys-Dietz Syndrome Type 5 [NCIt concept]
- Loeys-Dietz syndrome 5 [DO Concept]
DO Cross reference
- Loeys-Dietz syndrome 5 [DO Concept]
Genes related to phenotype
- Transforming growth factor, beta-3 [OMIM gene]
HPO term(s)
- Aortic root aneurysm [HPO term]
- Arachnodactyly [HPO term]
- Ascending aortic dissection [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid uvula [HPO term]
- Bilateral coxa valga [HPO term]
- Blue sclerae [HPO term]
- Brachycephaly [HPO term]
- Broad face [HPO term]
- Bruising susceptibility [HPO term]
- Cervical spine instability [HPO term]
- Cleft palate [HPO term]
- Cleft soft palate [HPO term]
- Congenital finger flexion contractures [HPO term]
- Decreased muscle mass [HPO term]
- Delayed gross motor development [HPO term]
- Dolichocephaly [HPO term]
- Downslanted palpebral fissures [HPO term]
- Eosinophilic infiltration of the esophagus [HPO term]
- Failure to thrive in infancy [HPO term]
- Flexion contracture of toe [HPO term]
- Growth delay [HPO term]
- Hiatus hernia [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Increased arm span [HPO term]
- Inguinal hernia [HPO term]
- Joint hypermobility [HPO term]
- Kyphoscoliosis [HPO term]
- Long face [HPO term]
- Long palpebral fissure [HPO term]
- Midface retrusion [HPO term]
- Mitral regurgitation [HPO term]
- Neonatal hypotonia [HPO term]
- Nevus flammeus [HPO term]
- Osteoarthritis [HPO term]
- Overfolded helix [HPO term]
- Overgrowth [HPO term]
- Overhanging nasal tip [HPO term]
- Patent foramen ovale [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Pes planus [HPO term]
- Prominent nasal bridge [HPO term]
- Proptosis [HPO term]
- Ptosis [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Retrognathia [HPO term]
- Scapular winging [HPO term]
- Short stature [HPO term]
- Smooth philtrum [HPO term]
- Spondylolisthesis [HPO term]
- Talipes equinovarus [HPO term]
- Tall stature [HPO term]
- Tented upper lip vermilion [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Familial thoracic aortic aneurysm and aortic dissection [ORDO Disease]
See also inter- (CISMeF)
- TGFB3 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Loeys-Dietz Syndrome Type 5 [NCIt concept]

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