Craniofacial dyssynostosis

General Information (adopted from Orphanet):

Synonyms, Signs: BILATERAL LAMBDOID AND SAGITTAL SYNOSTOSIS
BLSS
Number of Symptoms 66
OrphanetNr: 1516
OMIM Id: 218350
ICD-10: Q87.0
UMLs: C1857511
MeSH: C536455
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Cranial malformation
 -Rare developmental defect during embryogenesis
Genetic cranial malformation
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0010769) Pilonidal sinus Occasional [Orphanet] 35 / 7739
2
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
3
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
4
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
5
 (HPO:0000565) Esotropia 58 / 7739
6
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
7
 (HPO:0001629) Ventricular septal defect 316 / 7739
8
 (HPO:0002119) Ventriculomegaly 253 / 7739
9
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
10
 (HPO:0011331) Hemifacial atrophy Occasional [Orphanet] 79 / 7739
11
 (HPO:0001252) Muscular hypotonia 990 / 7739
12
 (HPO:0001290) Generalized hypotonia 51 / 7739
13
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
14
 (HPO:0010547) Muscle flaccidity 466 / 7739
15
 (HPO:0001324) Muscle weakness 859 / 7739
16
 (HPO:0001249) Intellectual disability 1089 / 7739
17
 (HPO:0001250) Seizures 1245 / 7739
18
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
19
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
20
 (HPO:0011217) Abnormal shape of the occiput 1 / 7739
21
 (HPO:0000248) Brachycephaly 222 / 7739
22
 (HPO:0000244) Brachyturricephaly 9 / 7739
23
 (HPO:0000268) Dolichocephaly Very frequent [Orphanet] 144 / 7739
24
 (HPO:0001363) Craniosynostosis Very frequent [Orphanet] 132 / 7739
25
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
26
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
27
 (HPO:0000341) Narrow forehead 96 / 7739
28
 (HPO:0000470) Short neck Occasional [Orphanet] 345 / 7739
29
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
30
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
31
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
32
 (HPO:0002021) Pyloric stenosis 51 / 7739
33
 (HPO:0001537) Umbilical hernia Frequent [Orphanet] 206 / 7739
34
 (HPO:0000047) Hypospadias 250 / 7739
35
 (HPO:0000028) Cryptorchidism 347 / 7739
36
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
37
 (HPO:0000272) Malar flattening 277 / 7739
38
 (HPO:0011800) Midface retrusion 221 / 7739
39
 (HPO:0009891) Underdeveloped supraorbital ridges Frequent [Orphanet] 36 / 7739
40
 (HPO:0010285) Oral synechia Occasional [Orphanet] 31 / 7739
41
 (HPO:0000194) Open mouth Frequent [Orphanet] 70 / 7739
42
 (HPO:0000322) Short philtrum Frequent [Orphanet] 130 / 7739
43
 (HPO:0000430) Underdeveloped nasal alae Frequent [Orphanet] 90 / 7739
44
 (HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
45
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
46
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
47
 (HPO:0000372) Abnormality of the auditory canal Frequent [Orphanet] 49 / 7739
48
 (HPO:0001052) Nevus flammeus Occasional [Orphanet] 88 / 7739
49
 (HPO:0000085) Horseshoe kidney 39 / 7739
50
 (HPO:0007099) Arnold-Chiari type I malformation 18 / 7739
51
 (HPO:0011800) Midface retrusion 221 / 7739
52
 (HPO:0000238) Hydrocephalus Frequent [Orphanet] 278 / 7739
53
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
54
 (OMIM) Asymmetric occiput 1 / 7739
55
 (OMIM) Chiari type I 1 / 7739
56
 (OMIM) Inferior displacement of the ears 1 / 7739
57
 (OMIM) Mega cisterna magna 1 / 7739
58
 (OMIM) Midface hypoplasia, mild 3 / 7739
59
 (OMIM) Narrow occiput 1 / 7739
60
 (OMIM) Nerve palsy 1 / 7739
61
 (OMIM) Normal development 4 / 7739
62
 (OMIM) Normal linear growth 2 / 7739
63
 (OMIM) Oculomotor dyspraxia 1 / 7739
64
 (OMIM) Sagittal/lambdoid sutural ridging 1 / 7739
65
 (OMIM) Subocciptal indentation 1 / 7739
66
 (OMIM) Tall forehead 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 2 sisters and 5 unrelated patients, Neuhauser et al. (1976) described a 'new' type of craniosynostosis-craniofacial dysostosis with short stature. Premature closure of the lambdoid and posterior part of the sagittal sutures caused a posteriorly narrow, dolichocephalic ...
Molecular genetics OMIM After identifying a translocation disrupting the SOX6 gene in a patient with craniofacial dyssynostosis, Tagariello et al. (2006) performed a mutation screen of the gene in 104 craniosynostosis patients. They identified 1 missense mutation leading to the exchange ...