Craniofrontonasal syndrome

Preferred Label : Craniofrontonasal syndrome;

Symbol : CFNS;

CISMeF acronym : CFND; CFNS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CFND; Craniofrontonasal dysplasia; Craniofrontonasal dysostosis;

Description : Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton, whereas males typically show only hypertelorism (Twigg et al., 2004; Wieland et al., 2004).;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the ephrin B1 gene (EFNB1, 300035.0001);

Prefixed ID : #304110;

Details

Origin ID

304110;

UMLS CUI

C0220767;

Automatic exact mappings (from CISMeF team)
- Craniofrontonasal dysplasia [ICD-11 More detail]
- symbol withdrawn CFNS [HGNC gene]
CISMeF manual mappings
- Craniofrontonasal dysplasia (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Craniofrontonasal dysplasia [MeSH concept]
- Craniofrontonasal dysplasia [ORDO Disease]
- Craniofrontonasal syndrome [PASCAL descriptor]
- craniofrontonasal dysplasia [MeSH Supplementary Concept]
- craniofrontonasal syndrome [Disease (Nov.)]
- craniofrontonasal syndrome [DO Concept]
DO Cross reference
- craniofrontonasal syndrome [DO Concept]
Genes related to phenotype
- Ephrin b1 [OMIM gene]
HPO term(s)
- Abnormal rib cage morphology [HPO term]
- Abnormality of the dentition [HPO term]
- Agenesis of corpus callosum [HPO term]
- Asymmetric leg shortening [HPO term]
- Axillary pterygium [HPO term]
- Bifid nasal tip [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Breast hypoplasia [HPO term]
- Broad hallux [HPO term]
- Broad nasal root [HPO term]
- Clavicle pseudoarthrosis [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Congenital pseudoarthrosis of the clavicle [HPO term]
- Coronal craniosynostosis [HPO term]
- Cryptorchidism [HPO term]
- Down-sloping shoulders [HPO term]
- Downslanted palpebral fissures [HPO term]
- Exotropia [HPO term]
- Facial asymmetry [HPO term]
- Fragile nails [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Grooved nails [HPO term]
- Hemihypotrophy of lower limb [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplastic nasal tip [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Joint laxity [HPO term]
- Low posterior hairline [HPO term]
- Nystagmus [HPO term]
- Pectus excavatum [HPO term]
- Ridged nail [HPO term]
- Shawl scrotum [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Sloping shoulders [HPO term]
- Split nail [HPO term]
- Sprengel anomaly [HPO term]
- Telecanthus [HPO term]
- Toe syndactyly [HPO term]
- Umbilical hernia [HPO term]
- Unilateral breast hypoplasia [HPO term]
- Wide nasal bridge [HPO term]
- Widow's peak [HPO term]
- X-linked dominant inheritance [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Craniofrontonasal dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Craniofrontonasal dysplasia [ORDO Disease]
- Craniofrontonasal dysplasia [MeSH concept]
- Craniofrontonasal dysplasia (disorder) [SNOMED CT concept]
- Craniofrontonasal syndrome [PASCAL descriptor]
- craniofrontonasal dysplasia [MeSH Supplementary Concept]
- craniofrontonasal syndrome [DO Concept]
- craniofrontonasal syndrome [Disease (Nov.)]

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