Isolated plagiocephaly

General Information (adopted from Orphanet):

Synonyms, Signs: CRS3
Non-syndromic unicoronal synostosis
Synostotic plagiocephaly
Number of Symptoms 36
OrphanetNr: 35098
OMIM Id: 615314
ICD-10: Q67.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 10 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0001363) Craniosynostosis 132 / 7739
2
 (HPO:0000256) Macrocephaly Occasional [Orphanet] 298 / 7739
3
 (HPO:0011800) Midface retrusion Occasional [Orphanet] 221 / 7739
4
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
5
 (HPO:0011331) Hemifacial atrophy Very frequent [Orphanet] 79 / 7739
6
 (HPO:0001357) Plagiocephaly Very frequent [Orphanet] 106 / 7739
7
 (HPO:0000294) Low anterior hairline rare [HPO:skoehler] 52 / 7739
8
 (HPO:0000508) Ptosis rare [HPO:skoehler] 459 / 7739
9
 (HPO:0000486) Strabismus Frequent [Orphanet] rare [HPO:skoehler] 576 / 7739
10
 (HPO:0001488) Bilateral ptosis 42 / 7739
11
 (HPO:0000496) Abnormality of eye movement Frequent [Orphanet] 79 / 7739
12
 (HPO:0001123) Visual field defect Frequent [Orphanet] 30 / 7739
13
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
14
 (HPO:0001263) Global developmental delay rare [HPO:skoehler] 853 / 7739
15
 (HPO:0001328) Specific learning disability 114 / 7739
16
 (HPO:0000717) Autism rare [HPO:skoehler] 108 / 7739
17
 (HPO:0001838) Rocker bottom foot 85 / 7739
18
 (HPO:0001765) Hammertoe 63 / 7739
19
 (HPO:0000954) Single transverse palmar crease rare [HPO:skoehler] 162 / 7739
20
 (HPO:0001763) Pes planus 176 / 7739
21
 (HPO:0001156) Brachydactyly syndrome rare [HPO:skoehler] 180 / 7739
22
 (HPO:0001822) Hallux valgus rare [HPO:skoehler] 70 / 7739
23
 (HPO:0001761) Pes cavus 225 / 7739
24
 (HPO:0006136) Bilateral postaxial polydactyly 30 / 7739
25
 (OMIM) Minor ear anomalies (in some patients) 1 / 7739
26
 (OMIM) Malocclusion, class I/II (in some patients) 1 / 7739
27
 (OMIM) Sagittal synostosis 2 / 7739
28
 (OMIM) Syndactyly between adjacent toes (in some patients) 1 / 7739
29
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
30
 (OMIM) Prominent CSF spaces (in some patients) 1 / 7739
31
 (MedDRA:10072883) Brachydactyly 153 / 7739
32
 (OMIM) Prominent ventricles (in some patients) 1 / 7739
33
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
34
 (OMIM) Asperger syndrome (rare) 1 / 7739
35
 (OMIM) Coronal synostosis, unilateral or bilateral 1 / 7739
36
 (OMIM) Agenesis of corpus callosum, partial or complete (rare) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some ...
Clinical Description OMIM Sharma et al. (2013) studied 72 individuals with craniosynostosis who had a mutation in the TCF12 gene (see MOLECULAR GENETICS). The most common presentation was bilateral coronal synostosis, which was seen in 25 patients; another 18 patients had ...
Molecular genetics OMIM By exome sequencing of 347 DNA samples from unrelated individuals with craniosynostosis, Sharma et al. (2013) identified heterozygosity for 36 different mutations in the TCF12 gene (see, e.g., 600480.0001-600480.0007) in 38 families. The mutations occurred predominantly in patients ...
Population genetics OMIM Fitzpatrick (2013) stated that craniosynostosis affects 1 in 2,200 individuals.