Fibrochondrogenesis 2

Preferred Label : Fibrochondrogenesis 2;

Symbol : FBCG2;

CISMeF acronym : FBCG2;

Type : Phenotype, molecular basis known;

Description : Fibrochondrogenesis is a severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia (summary by Tompson et al., 2012). For a discussion of genetic heterogeneity of fibrochondrogenesis, see;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the collagen XI, alpha-2 polypeptide gene (COL11A2, 120290.0012);

Prefixed ID : #614524;

Détails

Origin ID

614524;

UMLS CUI

C3281128;

Currated CISMeF NLP mapping
- fibrochondrogenesis 2 [DO Concept]
DO Cross reference
- fibrochondrogenesis 2 [DO Concept]
Genes related to phenotype
- Collagen, type XI, alpha-2 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bell-shaped thorax [HPO term]
- Hypoplastic ilia [HPO term]
- Hypoplastic ischia [HPO term]
- Hypoplastic pubic bone [HPO term]
- Malar flattening [HPO term]
- Metaphyseal cupping [HPO term]
- Metaphyseal widening [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Platyspondyly [HPO term]
- Protuberant abdomen [HPO term]
- Short nose [HPO term]
- Short ribs [HPO term]
- Thoracic hypoplasia [HPO term]
ORDO concept(s)
- Fibrochondrogenesis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Fibrochondrogenesis [ORDO Disease]

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

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