Acromelic frontonasal dysostosis

Preferred Label : Acromelic frontonasal dysostosis;

Symbol : AFND;

CISMeF acronym : AFND;

Type : Phenotype, molecular basis known;

Description : Verloes et al. (1992) described a rare variant of frontonasal dysplasia (FND; 136760), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the zinc finger SWIM domain-containing protein 6 (ZSWIM6, 615951.0001);

Prefixed ID : #603671;

Details

Origin ID

603671;

UMLS CUI

C1863616;

CISMeF manual mappings
- Acromelic frontonasal dysplasia (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Acromelic frontonasal dysplasia [ORDO Disease]
- Acromelic frontonasal dysplasia [MeSH concept]
- acromelic frontonasal dysostosis [DO Concept]
- acromelic frontonasal dysostosis [MeSH concept]
- acromelic frontonasal dysostosis [MeSH Supplementary Concept]
- acromelic frontonasal dysplasia [MeSH Supplementary Concept]
DO Cross reference
- acromelic frontonasal dysostosis [DO Concept]
Genes related to phenotype
- Zinc finger swim domain-containing protein 6 [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid nasal tip [HPO term]
- Bifid nose [HPO term]
- Brachycephaly [HPO term]
- Broad nasal tip [HPO term]
- Choroid plexus cyst [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Cryptorchidism [HPO term]
- Downslanted palpebral fissures [HPO term]
- Encephalocele [HPO term]
- Glaucoma [HPO term]
- Gray matter heterotopia [HPO term]
- Hypertelorism [HPO term]
- Hypopituitarism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability [HPO term]
- Large sella turcica [HPO term]
- Lipoma [HPO term]
- Midline defect of the nose [HPO term]
- Myopia [HPO term]
- Onychogryposis [HPO term]
- Periventricular nodular heterotopia [HPO term]
- Polydactyly [HPO term]
- Preaxial polydactyly [HPO term]
- Ptosis [HPO term]
- Retrocerebellar cyst [HPO term]
- Seizure [HPO term]
- Syndactyly [HPO term]
- Talipes equinovarus [HPO term]
- Telecanthus [HPO term]
- U-Shaped upper lip vermilion [HPO term]
- Upper airway obstruction [HPO term]
- Ventriculomegaly [HPO term]
- Vertical clivus [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Acromelic frontonasal dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- acromelic frontonasal dysostosis [MeSH Supplementary Concept]
- acromelic frontonasal dysostosis [MeSH concept]
- acromelic frontonasal dysostosis [DO Concept]

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