Diaphanospondylodysostosis

Preferred Label : Diaphanospondylodysostosis;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Vertebral ossification, defect in, with nephrogenic rests;

Description : Diaphanospondylodysostosis is a rare, recessively inherited, perinatal lethal skeletal disorder. The primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases (summary by Funari et al., 2010).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the BMP binding endothelial regulator gene (BMPER, 608699.0001);

Prefixed ID : #608022;

Details

Origin ID

608022;

UMLS CUI

C1842691;

Currated CISMeF NLP mapping
- Diaphanospondylodysostosis [ICD-11 More detail]
- Diaphanospondylodysostosis [ORDO Disease]
- Diaphanospondylodysostosis (disorder) [SNOMED CT concept]
- diaphanospondylodysostosis [MeSH concept]
- diaphanospondylodysostosis [MeSH Supplementary Concept]
Genes related to phenotype
- Bone morphogenetic protein-binding endothelial regulator protein [OMIM gene]
HPO term(s)
- Abnormal liver lobulation [HPO term]
- Absent in utero ossification of vertebral bodies [HPO term]
- Absent in utero rib ossification [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bell-shaped thorax [HPO term]
- Cleft palate [HPO term]
- Cystic renal dysplasia [HPO term]
- Depressed nasal bridge [HPO term]
- Depressed nasal ridge [HPO term]
- Disproportionate short-trunk short stature [HPO term]
- Enlarged kidney [HPO term]
- Epicanthus [HPO term]
- Flattened nasal bridge [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hammertoe [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic fingernail [HPO term]
- Hypotonia [HPO term]
- Increased nuchal translucency [HPO term]
- Inguinal hernia [HPO term]
- Intrauterine growth retardation [HPO term]
- Large fontanelles [HPO term]
- Low-set ears [HPO term]
- Lumbosacral meningocele [HPO term]
- Micrognathia [HPO term]
- Missing ribs [HPO term]
- Narrow pelvis bone [HPO term]
- Nephroblastomatosis [HPO term]
- Nephrogenic rest [HPO term]
- Oligohydramnios [HPO term]
- Polymicrogyria [HPO term]
- Protuberant abdomen [HPO term]
- Pulmonary hypoplasia [HPO term]
- Respiratory distress [HPO term]
- Respiratory insufficiency [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Short trunk [HPO term]
- Talipes equinovarus [HPO term]
- Thoracic hypoplasia [HPO term]
- Tracheomalacia [HPO term]
- Unossified sacrum [HPO term]
- Vertebral segmentation defect [HPO term]
- Webbed neck [HPO term]
ORDO concept(s)
- Diaphanospondylodysostosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Diaphanospondylodysostosis [ORDO Disease]
- Diaphanospondylodysostosis [ICD-11 More detail]
- Diaphanospondylodysostosis (disorder) [SNOMED CT concept]
- diaphanospondylodysostosis [MeSH Supplementary Concept]
- diaphanospondylodysostosis [MeSH concept]

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