Pfeiffer syndrome type 1

General Information (adopted from Orphanet):

Synonyms, Signs: Classic Pfeiffer syndrome
Number of Symptoms 19
OrphanetNr: 93258
OMIM Id:
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Pfeiffer syndrome
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
2
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
3
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
4
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
5
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
6
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
7
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
8
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
9
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
10
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
11
 (HPO:0010109) Short hallux Very frequent [Orphanet] 27 / 7739
12
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
13
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Frequent [Orphanet] 69 / 7739
14
 (HPO:0001770) Toe syndactyly Frequent [Orphanet] 149 / 7739
15
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
16
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
17
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Very frequent [Orphanet] 80 / 7739
18
 (HPO:0010055) Broad hallux Very frequent [Orphanet] 56 / 7739
19
 (HPO:0002410) Aqueductal stenosis Occasional [Orphanet] 19 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: