Pfeiffer syndrome

Preferred Label : Pfeiffer syndrome;

CISMeF acronym : ACS5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Acrocephalosyndactyly, type V; Acs V; Noack syndrome; ACS5;

Included titles and symbols : Craniofacial-skeletal-dermatologic dysplasia;

Description : Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified (Cohen, 1993). Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3. Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibroblast growth factor receptor-1 gene (FGFR1, 136350.0001); Caused by mutation in the fibroblast growth factor receptor-2 gene (FGFR2, 176943.0012);

Prefixed ID : #101600;

Details

Origin ID

101600;

UMLS CUI

C0220658;

Automatic exact mappings (from CISMeF team)
- American Cancer Society [NCIt concept]
- American College of Surgeons [NCIt concept]
- acrocephalosyndactylia [MeSH Descriptor]
- fibroblast growth factor receptor 1 [ORDO Gene]
- fibroblast growth factor receptor 1 [HGNC gene]
- fibroblast growth factor receptor 2 [ORDO Gene]
- fibroblast growth factor receptor 2 [HGNC gene]
Currated CISMeF NLP mapping
- Acrocephalosyndactyly type V (disorder) [SNOMED CT concept]
- Pfeiffer syndrome [PASCAL descriptor]
- Pfeiffer syndrome [DO Concept]
- Pfeiffer syndrome [ICD-11 Sub-sub category]
- Pfeiffer syndrome [MedDRA Preferred Term]
- Pfeiffer syndrome [ORDO Disease]
- Type V Acrocephalosyndactyly [NCIt concept]
- pfeiffer syndrome [MeSH concept]
- pfeiffer syndrome [SNOMED Notion]
- pfeiffer type acrocephalosyndactyly [MeSH Supplementary Concept]
DO Cross reference
- Pfeiffer syndrome [DO Concept]
Genes related to phenotype
- Fibroblast growth factor receptor 1 [OMIM gene]
- Fibroblast growth factor receptor 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Brachyturricephaly [HPO term]
- Broad hallux [HPO term]
- Broad phalanges of the thumb [HPO term]
- Broad thumb [HPO term]
- Bronchomalacia [HPO term]
- Chiari malformation [HPO term]
- Choanal atresia [HPO term]
- Choanal atresia or stenosis [HPO term]
- Choanal stenosis [HPO term]
- Cloverleaf skull [HPO term]
- Coronal craniosynostosis [HPO term]
- Dental crowding [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Elbow ankylosis [HPO term]
- Finger syndactyly [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Humeroradial synostosis [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypoplasia of the middle phalanges of the hand [HPO term]
- Intellectual disability [HPO term]
- Mandibular prognathia [HPO term]
- Shallow orbits [HPO term]
- Short middle phalanx of toe [HPO term]
- Short nose [HPO term]
- Shortening of all middle phalanges of the fingers [HPO term]
- Strabismus [HPO term]
- Syndactyly [HPO term]
- occasional clover-leaf skull [HPO term]
- small nose with low nasal bridge [HPO term]
ORDO concept(s)
- Pfeiffer syndrome [ORDO Disease]
- Pfeiffer syndrome type 1 [ORDO Disease]
- Pfeiffer syndrome type 2 [ORDO Disease]
- Pfeiffer syndrome type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrocephalosyndactyly type V (disorder) [SNOMED CT concept]
- Pfeiffer syndrome [DO Concept]
- Pfeiffer syndrome [MedDRA Preferred Term]
- Type V Acrocephalosyndactyly [NCIt concept]
- pfeiffer syndrome [SNOMED Notion]
- pfeiffer syndrome [MeSH concept]

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