Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

Preferred Label : Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia;

Type : Phenotype, molecular basis known;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the histone deacetylase 6 gene (HDAC6, 300272.0001);

Prefixed ID : #300863;

Details

Origin ID

300863;

UMLS CUI

C3275476;

Currated CISMeF NLP mapping
- X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) [SNOMED CT concept]
- X-linked dominant chondrodysplasia, Chassaing-Lacombe type [ORDO Disease]
- chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia [DO Concept]
Genes related to phenotype
- Histone deacetylase 6 [OMIM gene]
HPO term(s)
- 11 pairs of ribs [HPO term]
- Decreased skull ossification [HPO term]
- Depressed nasal ridge [HPO term]
- Distal shortening of limbs [HPO term]
- Frontal bossing [HPO term]
- Hydrocephalus [HPO term]
- Hypoplasia of the calcaneus [HPO term]
- Hypoplastic iliac wing [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, mild [HPO term]
- Intrauterine growth retardation [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Metaphyseal cupping [HPO term]
- Metaphyseal cupping of metacarpals [HPO term]
- Metaphyseal cupping of proximal phalanges [HPO term]
- Microphthalmia [HPO term]
- Platyspondyly [HPO term]
- Rhizomelia [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Thin ribs [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- X-linked dominant chondrodysplasia, Chassaing-Lacombe type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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