Pfeiffer syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: ACROCEPHALOSYNDACTYLY, TYPE V
NOACK SYNDROME CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED
ACS V
ACS5
Acrocephalosyndactyly type 5
Number of Symptoms 57
OrphanetNr: 710
OMIM Id: 101600
ICD-10: Q87.0
UMLs: C2931888
MeSH: C538582
MedDRA:
Snomed: 70410008

Prevalence, inheritance and age of onset:

Prevalence: 1 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Acrocephalosyndactyly
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Craniostenosis associated with a strabismus
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000244) Brachyturricephaly 9 / 7739
2
 (HPO:0000431) Wide nasal bridge Frequent [Orphanet] 290 / 7739
3
 (HPO:0000194) Open mouth Occasional [Orphanet] 70 / 7739
4
 (HPO:0000303) Mandibular prognathia Occasional [Orphanet] 179 / 7739
5
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
6
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
7
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
8
 (HPO:0000453) Choanal atresia 76 / 7739
9
 (HPO:0001363) Craniosynostosis 132 / 7739
10
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
11
 (HPO:0005280) Depressed nasal bridge 381 / 7739
12
 (HPO:0000348) High forehead Frequent [Orphanet] 157 / 7739
13
 (HPO:0012368) Flat face Occasional [Orphanet] 106 / 7739
14
 (HPO:0002676) Cloverleaf skull Occasional [HPO:probinson] 14 / 7739
15
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
16
 (HPO:0011324) Multiple suture craniosynostosis 22 / 7739
17
 (HPO:0003196) Short nose 264 / 7739
18
 (HPO:0004440) Coronal craniosynostosis 38 / 7739
19
 (HPO:0000262) Turricephaly Frequent [Orphanet] 38 / 7739
20
 (HPO:0000678) Dental crowding 65 / 7739
21
 (HPO:0000520) Proptosis 192 / 7739
22
 (HPO:0011331) Hemifacial atrophy Occasional [Orphanet] 79 / 7739
23
 (HPO:0000218) High palate 356 / 7739
24
 (HPO:0000470) Short neck Occasional [Orphanet] 345 / 7739
25
 (HPO:0000322) Short philtrum Occasional [Orphanet] 130 / 7739
26
 (HPO:0000452) Choanal stenosis 23 / 7739
27
 (HPO:0000586) Shallow orbits 23 / 7739
28
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
29
 (HPO:0000486) Strabismus 576 / 7739
30
 (HPO:0001249) Intellectual disability 1089 / 7739
31
 (HPO:0009700) Finger symphalangism Frequent [Orphanet] 55 / 7739
32
 (HPO:0010055) Broad hallux 56 / 7739
33
 (HPO:0006110) Shortening of all middle phalanges of the fingers 7 / 7739
34
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
35
 (HPO:0003307) Hyperlordosis Occasional [Orphanet] 122 / 7739
36
 (HPO:0003795) Short middle phalanx of toe 4 / 7739
37
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
38
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
39
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
40
 (HPO:0005048) Synostosis of carpal bones Occasional [Orphanet] 39 / 7739
41
 (HPO:0011304) Broad thumb 39 / 7739
42
 (HPO:0003070) Elbow ankylosis 8 / 7739
43
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
44
 (HPO:0003041) Humeroradial synostosis 19 / 7739
45
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
46
 (HPO:0002780) Bronchomalacia 7 / 7739
47
 (HPO:0005347) Cartilaginous trachea 1 / 7739
48
 (OMIM) Mental retardation, occasional 3 / 7739
49
 (HPO:0000238) Hydrocephalus 278 / 7739
50
 (OMIM) Choanal atresia or stenosis 3 / 7739
51
 (OMIM) Laryngo-, tracheo-, bronchomalacia 1 / 7739
52
 (OMIM) Brachymesophalangy of hands and feet 1 / 7739
53
 (OMIM) Occasional clover-leaf skull 1 / 7739
54
 (OMIM) Partial syndactyly of fingers and toes 2 / 7739
55
 (OMIM) Small nose with low nasal bridge 1 / 7739
56
 (HPO:0002308) Arnold-Chiari malformation 42 / 7739
57
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Diagnosis OMIM - Prenatal Diagnosis

Gonzales et al. (2005) reported 3 fetuses diagnosed prenatally with severe Pfeiffer syndrome, who all had the same heterozygous mutation in the FGFR2 gene (S351C; 176943.0024). All 3 patients had a cartilaginous tracheal ...
Clinical Description OMIM Pfeiffer (1964) found 8 persons affected in 3 generations, with 2 instances of male-to-male transmission. The striking feature was broad, short thumbs and big toes. The proximal phalanx of the thumb was either triangular or trapezoid (and occasionally ...
Molecular genetics OMIM - Pfeiffer Syndrome with Mutations in the FGFR1 Gene

Muenke et al. (1994) identified a specific mutation in the FGFR1 gene (P252R; 136350.0001) in all affected members of 5 unrelated Pfeiffer syndrome families linked to chromosome ...