Craniosynostosis - fibular aplasia

General Information (adopted from Orphanet):

Synonyms, Signs: Lowry syndrome
Number of Symptoms 31
OrphanetNr: 1533
OMIM Id: 218550
ICD-10: Q87.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: 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 Very frequent [Orphanet] 296 / 7739
2
(HPO:0000239) Large fontanelles Frequent [Orphanet] 135 / 7739
3
(HPO:0011800) Midface retrusion Frequent [Orphanet] 221 / 7739
4
(HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
5
(HPO:0000465) Webbed neck Frequent [Orphanet] 81 / 7739
6
(HPO:0001363) Craniosynostosis 132 / 7739
7
(HPO:0000689) Dental malocclusion Frequent [Orphanet] 114 / 7739
8
(HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
9
(HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
10
(HPO:0000520) Proptosis Very frequent [Orphanet] 192 / 7739
11
(HPO:0002645) Wormian bones Frequent [Orphanet] 65 / 7739
12
(HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
13
(HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
14
(HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
15
(HPO:0000632) Lacrimation abnormality Frequent [Orphanet] 42 / 7739
16
(HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
17
(HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
18
(HPO:0100810) Pointed helix Frequent [Orphanet] 3 / 7739
19
(HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
20
(HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
21
(HPO:0001762) Talipes equinovarus Very frequent [Orphanet] 309 / 7739
22
(HPO:0002991) Abnormality of the fibula Very frequent [Orphanet] 49 / 7739
23
(HPO:0000954) Single transverse palmar crease Very frequent [Orphanet] 162 / 7739
24
(HPO:0003422) Vertebral segmentation defect Frequent [Orphanet] 95 / 7739
25
(HPO:0000766) Abnormality of the sternum Frequent [Orphanet] 31 / 7739
26
(HPO:0010769) Pilonidal sinus Frequent [Orphanet] 35 / 7739
27
(HPO:0002990) Fibular aplasia 16 / 7739
28
(HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
29
(HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
30
(HPO:0011420) Death Frequent [Orphanet] 184 / 7739
31
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: