MCID: CRN264
MIFTS: 29

Craniosynostosis with Fibular Aplasia

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Craniosynostosis with Fibular Aplasia

MalaCards integrated aliases for Craniosynostosis with Fibular Aplasia:

Name: Craniosynostosis with Fibular Aplasia 56
Craniosynostosis-Fibular Aplasia Syndrome 58
Lowry Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
craniosynostosis-fibular aplasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
craniosynostosis with fibular aplasia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Craniosynostosis with Fibular Aplasia

MalaCards based summary : Craniosynostosis with Fibular Aplasia, also known as craniosynostosis-fibular aplasia syndrome, is related to coffin-lowry syndrome and symptomatic form of coffin-lowry syndrome in female carriers. Affiliated tissues include bone, brain and testes, and related phenotypes are brachycephaly and cryptorchidism

More information from OMIM: 218550

Related Diseases for Craniosynostosis with Fibular Aplasia

Diseases related to Craniosynostosis with Fibular Aplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 coffin-lowry syndrome 12.9
2 symptomatic form of coffin-lowry syndrome in female carriers 12.2
3 mental retardation-hypotonic facies syndrome, x-linked, 1 11.7
4 rhizomelic dysplasia, patterson-lowry type 11.2
5 alacrima, achalasia, and mental retardation syndrome 10.4
6 hypotonia 10.4
7 hypertelorism 10.3
8 scoliosis 10.3
9 branchiootic syndrome 1 10.2
10 hyperekplexia 10.2
11 quadriplegia 10.2
12 congestive heart failure 10.2
13 atrial standstill 1 10.1
14 coffin-siris syndrome 1 10.1
15 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
16 sleep apnea 10.1
17 sensorineural hearing loss 10.1
18 microcephaly 10.1
19 hydrocephalus 10.1
20 dilated cardiomyopathy 10.1
21 restrictive cardiomyopathy 10.1
22 paraplegia 10.1
23 apnea, obstructive sleep 9.9
24 hyperglycinuria 9.9
25 hypochondroplasia 9.9
26 pectus excavatum 9.9
27 schizophrenia 9.9
28 spondylolisthesis 9.9
29 telecanthus 9.9
30 corpus callosum, agenesis of 9.9
31 hydrops fetalis, nonimmune 9.9
32 iminoglycinuria 9.9
33 johanson-blizzard syndrome 9.9
34 abnormal hair, joint laxity, and developmental delay 9.9
35 alpha-thalassemia/mental retardation syndrome, x-linked 9.9
36 opitz-kaveggia syndrome 9.9
37 retinoschisis 1, x-linked, juvenile 9.9
38 macrostomia, isolated 9.9
39 cortical malformations, occipital 9.9
40 mucopolysaccharidosis-plus syndrome 9.9
41 aspiration pneumonia 9.9
42 tooth agenesis 9.9
43 non-syndromic x-linked intellectual disability 9.9
44 left ventricular noncompaction 9.9
45 stickler syndrome 9.9
46 hyperprolinemia 9.9
47 alpha thalassemia-x-linked intellectual disability syndrome 9.9
48 respiratory failure 9.9
49 tetanus 9.9
50 mitral valve insufficiency 9.9

Graphical network of the top 20 diseases related to Craniosynostosis with Fibular Aplasia:



Diseases related to Craniosynostosis with Fibular Aplasia

Symptoms & Phenotypes for Craniosynostosis with Fibular Aplasia

Human phenotypes related to Craniosynostosis with Fibular Aplasia:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
2 cryptorchidism 58 31 very rare (1%) Very frequent (99-80%) HP:0000028
3 bilateral single transverse palmar creases 58 31 hallmark (90%) Very frequent (99-80%) HP:0007598
4 talipes 58 31 hallmark (90%) Very frequent (99-80%) HP:0001883
5 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520
6 fibular aplasia 58 31 very rare (1%) Very frequent (99-80%) HP:0002990
7 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
8 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
9 open bite 58 31 frequent (33%) Frequent (79-30%) HP:0010807
10 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
11 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
12 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
13 webbed neck 58 31 frequent (33%) Frequent (79-30%) HP:0000465
14 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
15 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
16 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
17 lacrimation abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000632
18 reduced number of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0009804
19 sacral dimple 58 31 frequent (33%) Frequent (79-30%) HP:0000960
20 vertebral segmentation defect 58 31 frequent (33%) Frequent (79-30%) HP:0003422
21 large fontanelles 58 31 frequent (33%) Frequent (79-30%) HP:0000239
22 wormian bones 58 31 frequent (33%) Frequent (79-30%) HP:0002645
23 midface retrusion 58 31 frequent (33%) Frequent (79-30%) HP:0011800
24 abnormality of the sternum 58 31 frequent (33%) Frequent (79-30%) HP:0000766
25 pointed helix 58 31 frequent (33%) Frequent (79-30%) HP:0100810
26 seizure 31 frequent (33%) HP:0001250
27 craniosynostosis 31 very rare (1%) HP:0001363
28 single transverse palmar crease 31 very rare (1%) HP:0000954
29 seizures 58 Frequent (79-30%)
30 abnormal palate morphology 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
craniosynostosis

Skeletal Limbs:
fibular aplasia

Clinical features from OMIM:

218550

Drugs & Therapeutics for Craniosynostosis with Fibular Aplasia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Chewing and Swallowing Training Program in Coffin-Lowry Syndrome: A Case Report Enrolling by invitation NCT04199546

Search NIH Clinical Center for Craniosynostosis with Fibular Aplasia

Genetic Tests for Craniosynostosis with Fibular Aplasia

Anatomical Context for Craniosynostosis with Fibular Aplasia

MalaCards organs/tissues related to Craniosynostosis with Fibular Aplasia:

40
Bone, Brain, Testes, Spinal Cord, Skeletal Muscle, Lung, Skin

Publications for Craniosynostosis with Fibular Aplasia

Articles related to Craniosynostosis with Fibular Aplasia:

(show top 50) (show all 220)
# Title Authors PMID Year
1
Absent fibula and craniosynostosis: a 25 year follow up. 56
8100584 1993
2
Congenital absence of the fibula and craniosynostosis in sibs. 56
4403018 1972
3
Coffin-Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing. 61
32577269 2020
4
Genome-wide association analysis for lethal brachycephalic-like facial dysmorphia in Labrador Retrievers. 61
31691328 2020
5
Role of p90 ribosomal S6 kinase in long-term synaptic facilitation and enhanced neuronal excitability. 61
31953461 2020
6
An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3. 61
31512387 2019
7
Coffin-Lowry syndrome in Chinese. 61
31400053 2019
8
[Analysis of RPS6KA3 gene mutation in a Chinese pedigree affected with Coffin-Lowry syndrome]. 61
31400131 2019
9
A Bizarre Gait as a Result of Overlapping Functional Disorder With Coffin-Lowry Syndrome. 61
31392253 2019
10
Severe Restrictive Lung Disease in One of the Oldest Documented Males With Coffin-Lowry Syndrome. 61
30791716 2019
11
Periventricular small cystic lesions in a patient with Coffin-Lowry syndrome who exhibited a novel mutation in the RPS6KA3 gene. 61
29678278 2018
12
Selective alteration of adult hippocampal neurogenesis and impaired spatial pattern separation performance in the RSK2-deficient mouse model of Coffin-Lowry syndrome. 61
29627578 2018
13
The natural history of spinal deformity in patients with Coffin-Lowry syndrome. 61
29456757 2018
14
Animal Models for Coffin-Lowry Syndrome: RSK2 and Nervous System Dysfunction. 61
29875643 2018
15
Growth Concerns in Coffin-Lowry Syndrome: A Case Report and Literature Review. 61
30740391 2018
16
Drosophila RSK Influences the Pace of the Circadian Clock by Negative Regulation of Protein Kinase Shaggy Activity. 61
29706866 2018
17
Perioperative management of a patient with Coffin-Lowry syndrome complicated by severe obesity: A case report and literature review. 61
29245289 2017
18
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing. 61
28425089 2017
19
Molecular Targeting of ERKs/RSK2 Signaling in Cancers. 61
28714417 2017
20
Rsk2 Knockout Affects Emotional Behavior in the IntelliCage. 61
28585192 2017
21
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes. 61
28027854 2017
22
Peculiar Clinical Presentation of Coxsackievirus B4 Infection: Neonatal Restrictive Cardiomyopathy. 61
28670500 2017
23
Foramen magnum compression in Coffin-Lowry syndrome: A case report. 61
28190284 2017
24
A Highlighted Case for Emphasizing on Clinical Diagnosis for Rare Syndrome in Third World. 61
29201128 2017
25
Mechanical ventilation in Coffin-Lowry syndrome: a case report. 61
28099645 2016
26
Eight years of follow-up after laminectomy of calcium pyrophosphate crystal deposition in the cervical yellow ligament of patient with Coffin-Lowry syndrome: A case report. 61
27495083 2016
27
Rsk2, the Kinase Mutated in Coffin-Lowry Syndrome, Controls Cementum Formation. 61
26927527 2016
28
Difficult airway management using the Pentax-AWS Airwayscope with a thin Intlock and bronchofiberscope in a patient with Coffin-Lowry syndrome. 61
26897436 2016
29
Bacterial Expression, Purification and In Vitro Phosphorylation of Full-Length Ribosomal S6 Kinase 2 (RSK2). 61
27732676 2016
30
Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome. 61
26297997 2016
31
Drop episodes improved after tracheotomy: a case of Coffin-Lowry syndrome associated with obstructive sleep apnea syndrome. 61
26914125 2016
32
625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability. 61
26354035 2015
33
Loss of the Coffin-Lowry syndrome-associated gene RSK2 alters ERK activity, synaptic function and axonal transport in Drosophila motoneurons. 61
26398944 2015
34
Myoclonus in childhood-onset neurogenetic disorders: The importance of early identification and treatment. 61
26232052 2015
35
Consider the neuro-cardiac continuum of Coffin-Lowry syndrome! 61
25974232 2015
36
Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome. 61
26279655 2015
37
[Deletion of the RPS6KA3 gene in a female with a classical phenotype of Coffin-Lowry syndrome including stimulus-induced drop attacks]. 61
26156445 2015
38
Mitral and tricuspid valve surgery for Coffin-Lowry syndrome. 61
23873216 2015
39
A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings. 61
26043507 2015
40
[Coffin-Lowry syndrome. Its association with congenitally narrow cervical canal and myelomalacia]. 61
25354065 2014
41
Familial co-segregation of Coffin-Lowry syndrome inherited from the mother and autosomal dominant Waardenburg type IV syndrome due to deletion of EDNRB inherited from the father. 61
25118007 2014
42
The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients. 61
25044551 2014
43
Next-generation sequencing identifies rare variants associated with Noonan syndrome. 61
25049390 2014
44
Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain. 61
24311527 2014
45
[Boy with Coffin-Lowry syndrome associated with spinal cord injuries]. 61
24601120 2014
46
RSK2 is a modulator of craniofacial development. 61
24416220 2014
47
Stimulus-induced myoclonus treated effectively with clonazepam in genetically confirmed Coffin-Lowry syndrome. 61
25667906 2014
48
Preliminary investigation of the influence of CREB1 gene polymorphisms on cognitive dysfunction in Chinese patients with major depression. 61
23844928 2014
49
The Coffin-Lowry syndrome-associated protein RSK2 regulates neurite outgrowth through phosphorylation of phospholipase D1 (PLD1) and synthesis of phosphatidic acid. 61
24336713 2013
50
An Xp22.12 microduplication including RPS6KA3 identified in a family with variably affected intellectual and behavioral disabilities. 61
23985797 2013

Variations for Craniosynostosis with Fibular Aplasia

Expression for Craniosynostosis with Fibular Aplasia

Search GEO for disease gene expression data for Craniosynostosis with Fibular Aplasia.

Pathways for Craniosynostosis with Fibular Aplasia

GO Terms for Craniosynostosis with Fibular Aplasia

Sources for Craniosynostosis with Fibular Aplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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