PFEIFFER SYNDROME

ACS5

http://purl.bioontology.org/ontology/OMIM/101600

ACS5

NOACK SYNDROME

CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA

ACROCEPHALOSYNDACTYLY, TYPE V

ACS V

C0220658

10q26

TK14

FGFR2

BEK

BBDS

JWS

CFD1

http://purl.bioontology.org/ontology/OMIM/MTHU001542

http://purl.bioontology.org/ontology/OMIM/MTHU012282

http://purl.bioontology.org/ontology/OMIM/MTHU019777

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU001173

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU019775

http://purl.bioontology.org/ontology/OMIM/MTHU019773

http://purl.bioontology.org/ontology/OMIM/MTHU019779

http://purl.bioontology.org/ontology/OMIM/MTHU007642

http://purl.bioontology.org/ontology/OMIM/MTHU002014

http://purl.bioontology.org/ontology/OMIM/MTHU005346

http://purl.bioontology.org/ontology/OMIM/MTHU002599

http://purl.bioontology.org/ontology/OMIM/MTHU014446

http://purl.bioontology.org/ontology/OMIM/MTHU066984

http://purl.bioontology.org/ontology/OMIM/MTHU019774

http://purl.bioontology.org/ontology/OMIM/MTHU019778

http://purl.bioontology.org/ontology/OMIM/MTHU019776

http://purl.bioontology.org/ontology/OMIM/MTHU003865

http://purl.bioontology.org/ontology/OMIM/MTHU013660

http://purl.bioontology.org/ontology/OMIM/MTHU002499

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU036356

http://purl.bioontology.org/ontology/OMIM/MTHU017720

Phenotype description, molecular basis known.

101600

3

pound

PFEIFFER SYNDROME

Type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic [MISCELLANEOUS]

Caused by mutation in the fibroblast growth factor receptor-1 gene (FGFR1, 136350.0001) [MOLECULAR BASIS]

Three subtypes of Pfeiffer syndrome have been described - Type 1: 'mild' autosomal dominant [MISCELLANEOUS]

Caused by mutation in the fibroblast growth factor receptor-2 gene (FGFR2, 176943.0012) [MOLECULAR BASIS]

Type 3: craniosynostosis, early demise, sporadic [MISCELLANEOUS]

De novo mutation in most cases [MISCELLANEOUS]

T047