Cardiocranial syndrome, Pfeiffer type

General Information (adopted from Orphanet):

Synonyms, Signs: PFEIFFER CARDIOCRANIAL SYNDROME
Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis
Pfeiffer-Singer-Zschiesche syndrome
Craniosynostosis - congenital heart disease - intellectual deficit
Number of Symptoms 38
OrphanetNr: 2872
OMIM Id: 218450
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 10 cases [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndromic craniosynostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
 (HPO:0000076) Vesicoureteral reflux Frequent [Orphanet] 94 / 7739
3
 (HPO:0000028) Cryptorchidism 347 / 7739
4
 (HPO:0100542) Abnormal localization of kidney Frequent [Orphanet] 64 / 7739
5
 (HPO:0000054) Micropenis Frequent [Orphanet] 257 / 7739
6
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
7
 (HPO:0004442) Sagittal craniosynostosis 16 / 7739
8
 (HPO:0001363) Craniosynostosis Very frequent [Orphanet] 132 / 7739
9
 (HPO:0000153) Abnormality of the mouth Very frequent [Orphanet] 60 / 7739
10
 (HPO:0000268) Dolichocephaly Very frequent [Orphanet] 144 / 7739
11
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
12
 (HPO:0002263) Exaggerated cupid's bow Frequent [Orphanet] 15 / 7739
13
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
14
 (HPO:0000347) Micrognathia 426 / 7739
15
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
16
 (HPO:0000356) Abnormality of the outer ear Very frequent [Orphanet] 85 / 7739
17
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
18
 (HPO:0001249) Intellectual disability 1089 / 7739
19
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
20
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
21
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
22
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
23
 (HPO:0001510) Growth delay 295 / 7739
24
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
25
 (HPO:0001631) Atria septal defect Frequent [Orphanet] 274 / 7739
26
 (HPO:0030680) Abnormality of cardiovascular system morphology Very frequent [Orphanet] 355 / 7739
27
 (HPO:0001636) Tetralogy of Fallot Frequent [Orphanet] 104 / 7739
28
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
29
 (HPO:0003220) Abnormality of chromosome stability Occasional [Orphanet] 98 / 7739
30
 (HPO:0002779) Tracheomalacia Very frequent [Orphanet] 26 / 7739
31
 (HPO:0001601) Laryngomalacia Very frequent [Orphanet] 61 / 7739
32
 (HPO:0005607) Abnormality of the tracheobronchial system 2 / 7739
33
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
34
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
35
 (OMIM) Limited mouth opening 2 / 7739
36
 (HPO:0030260) Microphallus 6 / 7739
37
 (OMIM) Retardation 2 / 7739
38
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: