Mesomelia-synostoses syndrome

Preferred Label : Mesomelia-synostoses syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mesomelic dysplasia with acral synostoses, verloes-david-pfeiffer type; Mesomelic dysplasia, syndromic; Chromosome 8q13 deletion syndrome;

Description : The Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, palatal abnormality, congenital heart disease, and ureteral anomalies (summary by Isidor et al., 2009). Mesomelia and synostoses are also cardinal features of the Kantaputra type of mesomelic dysplasia (156232).;

Inheritance : Autosomal dominant;

Molecular basis : A contiguous gene deletion syndrome caused by heterozygous deletion (582-738 kb) of 8q13 including the SULF1 (610012) and SLCO5A1 (613543) genes;

Prefixed ID : #600383;

Détails

Origin ID

600383;

UMLS CUI

C1838162;

Currated CISMeF NLP mapping
- 8q13 microdeletion syndrome (disorder) [SNOMED CT concept]
- Mesomelia-synostoses syndrome [MeSH concept]
- Mesomelia-synostoses syndrome [ORDO Disease]
- Verloes-David syndrome [ICD-11 More detail]
- mesomelia-synostoses syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal abdomen morphology [HPO term]
- Abnormal vertebral morphology [HPO term]
- Absent uvula [HPO term]
- Autosomal dominant inheritance [HPO term]
- Convex nasal ridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Mesomelia [HPO term]
- Mesomelic short stature [HPO term]
- Mesomelic short stature [HPO term]
- Metacarpal synostosis [HPO term]
- Micromelia [HPO term]
- Microretrognathia [HPO term]
- Mild vertebral anomalies [HPO term]
- Nasal speech [HPO term]
- Partial fusion of proximal row of carpal bones [HPO term]
- Progressive forearm bowing [HPO term]
- Ptosis [HPO term]
- Short foot [HPO term]
- Short umbilical cord [HPO term]
- Ulnar deviation of the hand [HPO term]
- Ulnar deviation of the hand or of fingers of the hand [HPO term]
ORDO concept(s)
- Mesomelia-synostoses syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 8q13 microdeletion syndrome (disorder) [SNOMED CT concept]
- Mesomelia-synostoses syndrome [MeSH concept]
- Mesomelia-synostoses syndrome [ORDO Disease]
- Verloes-David syndrome [ICD-11 More detail]
- mesomelia-synostoses syndrome [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients