Campomelic dysplasia

Preferred Label : Campomelic dysplasia;

CISMeF acronym : CMPD; CMPD1; CMPD1/SRA1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cmd1; CMPD; CMPD1; CMPD1/SRA1;

Included titles and symbols : Campomelic dysplasia with autosomal sex reversal; Acampomelic campomelic dysplasia; Acampomelic campomelic dysplasia with autosomal sex reversal; Camptomelic dysplasia;

Description : Campomelic dysplasia is a disorder of the newborn characterized by congenital bowing and angulation of long bones, together with other skeletal and extraskeletal defects. Up to two-thirds of affected XY individuals have a gradation of genital defects or may develop as phenotypic females (Wagner et al., 1994).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SRY-box 9 gene (SOX9, 114290.0001);

Prefixed ID : #114290;

Details

Origin ID

114290;

UMLS CUI

C1861922;

Automatic exact mappings (from CISMeF team)
- Campomelic dysplasia [ICD-11 More detail]
- Myeloproliferative Neoplasm [NCIt concept]
- SOX9 wt Allele [NCIt concept]
- acampomelic campomelic dysplasia [MeSH concept]
- campomelic dysplasia with autosomal sex reversal [MeSH concept]
- campomelic dysplasia with autosomal sex reversal [MeSH Supplementary Concept]
- dilated cardiomyopathy 1S [DO Concept]
- myeloproliferative neoplasm [DO Concept]
- myosin heavy chain 7 [ORDO Gene]
Currated CISMeF NLP mapping
- Campomelic Dysplasia [NCIt concept]
- Campomelic dysplasia [PASCAL descriptor]
- Campomelic dysplasia [ORDO Disease]
- Camptomelic dysplasia (disorder) [SNOMED CT concept]
- campomelic dysplasia [DO Concept]
- campomelic dysplasia [Disease (Nov.)]
- campomelic dysplasia [MeSH Descriptor]
- campomelic dysplasia [MeSH concept]
- camptomelic dysplasia [SNOMED Notion]
DO Cross reference
- campomelic dysplasia [DO Concept]
Genes related to phenotype
- Sry-box 9 [OMIM gene]
HPO term(s)
- 11 pairs of ribs [HPO term]
- Abnormal heart morphology [HPO term]
- Absent sternal mineralization [HPO term]
- Absent sternal ossification [HPO term]
- Anterior tibial bowing [HPO term]
- Apnea [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral talipes equinovarus [HPO term]
- Blepharophimosis [HPO term]
- Bowing of the long bones [HPO term]
- Carious teeth [HPO term]
- Cleft palate [HPO term]
- Conductive hearing impairment [HPO term]
- Congenital onset [HPO term]
- Contracture of the distal interphalangeal joint of the fingers [HPO term]
- Delayed epiphyseal ossification [HPO term]
- Depressed nasal bridge [HPO term]
- Depressed nasal ridge [HPO term]
- Dislocated radial head [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Failure to thrive in survivors [HPO term]
- Feeding difficulties [HPO term]
- Femoral bowing [HPO term]
- Fibular hypoplasia [HPO term]
- Flat face [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- Hallux valgus [HPO term]
- Hearing impairment [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- Hip dislocation [HPO term]
- Hydrocephalus [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic cervical vertebrae [HPO term]
- Hypoplastic iliac wing [HPO term]
- Hypoplastic scapulae [HPO term]
- Hypotonia [HPO term]
- Irregular dentition [HPO term]
- Joint laxity [HPO term]
- Kyphoscoliosis [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Metatarsus adductus [HPO term]
- Micrognathia [HPO term]
- Mild global developmental delay [HPO term]
- Moderate global developmental delay [HPO term]
- Myopia [HPO term]
- Narrow iliac wing [HPO term]
- Narrow mouth [HPO term]
- Neonatal respiratory distress [HPO term]
- Neonatal short-limb short stature [HPO term]
- Patellar hypoplasia [HPO term]
- Pectus carinatum [HPO term]
- Pes planus [HPO term]
- Polyhydramnios [HPO term]
- Poorly ossified cervical vertebrae [HPO term]
- Pretibial dimple [HPO term]
- Recurrent lower respiratory tract infections [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Relative macrocephaly [HPO term]
- Respiratory distress [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Sex reversal [HPO term]
- Short 1st metacarpal [HPO term]
- Short limb dwarfism [HPO term]
- Short long bone [HPO term]
- Short nail [HPO term]
- Short palpebral fissure [HPO term]
- Short phalanx of finger [HPO term]
- Shortening of all phalanges of fingers [HPO term]
- Shortening of all phalanges of the toes [HPO term]
- Small face [HPO term]
- Spina bifida [HPO term]
- Spinal dysraphism [HPO term]
- Stridor [HPO term]
- Submucous cleft hard palate [HPO term]
- Talipes equinovarus [HPO term]
- Thin ribs [HPO term]
- Thoracic hypoplasia [HPO term]
- Thoracic scoliosis [HPO term]
- Tibial bowing [HPO term]
- Tracheobronchomalacia [HPO term]
- Tracheomalacia [HPO term]
- Wide anterior fontanel [HPO term]
ORDO concept(s)
- Campomelic dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Campomelic Dysplasia [NCIt concept]
- Campomelic dysplasia [ORDO Disease]
- Campomelic dysplasia [PASCAL descriptor]
- Campomelic syndrome [MedDRA Preferred Term]
- Camptomelic dysplasia (disorder) [SNOMED CT concept]
- campomelic dysplasia [MeSH Descriptor]
- campomelic dysplasia [MeSH concept]
- campomelic dysplasia [DO Concept]
- campomelic dysplasia [Disease (Nov.)]
- camptomelic dysplasia [SNOMED Notion]
Validated automatic mappings to BTNT
- Acampomelic Campomelic Dysplasia [NCIt concept]

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