Fibrochondrogenesis 1

Preferred Label : Fibrochondrogenesis 1;

Symbol : FBCG1;

CISMeF acronym : FBCG1;

Type : Phenotype, molecular basis known;

Description : Fibrochondrogenesis is a severe, autosomal recessive, short-limbed skeletal dysplasia clinically characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. Radiographically, the long bones are short and have broad metaphyseal ends, giving them a dumb-bell shape. The vertebral bodies are flat and, on lateral view, have a distinctive pinched appearance, with a hypoplastic posterior end and a rounded anterior end. The ribs are typically short and wide and have metaphyseal cupping at both ends (summary by Tompson et al., 2010). - Genetic Heterogeneity of Fibrochondrogenesis Fibrochondrogenesis-2 (FBCG2; 614524) is caused by mutation in the COL11A2 gene (120290) on chromosome 6p21.3.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the collagen XI, alpha-1 polypeptide gene (COL11A1, 120280.0008);

Laboratory abnormalities : Disorganized growth plate cartilage;

Prefixed ID : #228520;

Details

Origin ID

228520;

UMLS CUI

C3278138;

Currated CISMeF NLP mapping
- fibrochondrogenesis 1 [DO Concept]
DO Cross reference
- fibrochondrogenesis 1 [DO Concept]
Genes related to phenotype
- Collagen, type XI, alpha-1 [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Anterior and posterior rib cupping [HPO term]
- Anterior rib cupping [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad ischia [HPO term]
- Broad long bones [HPO term]
- Broad, hypoplastic ischia [HPO term]
- Camptodactyly [HPO term]
- Cleft palate [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Depressed nasal bridge [HPO term]
- Dumbbell-shaped long bone [HPO term]
- Fibular hypoplasia [HPO term]
- Flat face [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Hydrops fetalis [HPO term]
- Hypoplastic fingernail [HPO term]
- Hypoplastic ischia [HPO term]
- Hypoplastic scapulae [HPO term]
- Hypoplastic toenails [HPO term]
- Joint contracture of the hand [HPO term]
- Long clavicles [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Megalocornea [HPO term]
- Narrow greater sciatic notch [HPO term]
- Narrow mouth [HPO term]
- Omphalocele [HPO term]
- Patent foramen ovale [HPO term]
- Platyspondyly [HPO term]
- Posterior rib cupping [HPO term]
- Posterior vertebral hypoplasia [HPO term]
- Proptosis [HPO term]
- Protuberant abdomen [HPO term]
- Rhizomelia [HPO term]
- Rhizomelic dwarfism [HPO term]
- Rhizomelic shortening [HPO term]
- Short foot [HPO term]
- Short long bone [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Short palm [HPO term]
- Short ribs [HPO term]
- Short scapulae [HPO term]
- Short, thin ribs [HPO term]
- Small feet [HPO term]
- Small hand [HPO term]
- Stillbirth [HPO term]
- Stillbirth [HPO term]
- Thin clavicles [HPO term]
- Thin ribs [HPO term]
- Thoracic hypoplasia [HPO term]
- Wide anterior fontanel [HPO term]
- Widely patent coronal suture [HPO term]
- Widely patent sagittal suture [HPO term]
- short, broad dumbbell-shaped tubular bones with irregular metaphyses [HPO term]
- short, broad tubular bones [HPO term]
ORDO concept(s)
- Fibrochondrogenesis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Fibrochondrogenesis [PASCAL descriptor]
- Fibrochondrogenesis [ICD-11 More detail]
- Fibrochondrogenesis [ORDO Disease]
- Fibrochondrogenesis (disorder) [SNOMED CT concept]
- fibrochondrogenesis [MeSH Supplementary Concept]
- fibrochondrogenesis [MeSH concept]
- fibrochondrogenesis [SNOMED Notion]

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