MCID: CRN264
MIFTS: 30

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 58
Craniosynostosis-Fibular Aplasia Syndrome 60
Lowry Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
craniosynostosis-fibular aplasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
craniosynostosis with fibular aplasia:
Inheritance autosomal recessive inheritance


Classifications:



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 lung, and related phenotypes are brachycephaly and cryptorchidism

Description from OMIM: 218550

Related Diseases for Craniosynostosis with Fibular Aplasia

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:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachycephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000248
2 cryptorchidism 60 33 very rare (1%) Very frequent (99-80%) HP:0000028
3 bilateral single transverse palmar creases 60 33 hallmark (90%) Very frequent (99-80%) HP:0007598
4 proptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000520
5 talipes 60 33 hallmark (90%) Very frequent (99-80%) HP:0001883
6 fibular aplasia 60 33 very rare (1%) Very frequent (99-80%) HP:0002990
7 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
8 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
9 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
10 respiratory insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0002093
11 inguinal hernia 60 33 frequent (33%) Frequent (79-30%) HP:0000023
12 open bite 60 33 frequent (33%) Frequent (79-30%) HP:0010807
13 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
14 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
15 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
16 wormian bones 60 33 frequent (33%) Frequent (79-30%) HP:0002645
17 webbed neck 60 33 frequent (33%) Frequent (79-30%) HP:0000465
18 low-set, posteriorly rotated ears 60 33 frequent (33%) Frequent (79-30%) HP:0000368
19 lacrimation abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0000632
20 reduced number of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0009804
21 sacral dimple 60 33 frequent (33%) Frequent (79-30%) HP:0000960
22 vertebral segmentation defect 60 33 frequent (33%) Frequent (79-30%) HP:0003422
23 midface retrusion 60 33 frequent (33%) Frequent (79-30%) HP:0011800
24 large fontanelles 60 33 frequent (33%) Frequent (79-30%) HP:0000239
25 abnormality of the sternum 60 33 frequent (33%) Frequent (79-30%) HP:0000766
26 pointed helix 60 33 frequent (33%) Frequent (79-30%) HP:0100810
27 craniosynostosis 33 very rare (1%) HP:0001363
28 single transverse palmar crease 33 very rare (1%) HP:0000954
29 abnormality of the palate 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
craniosynostosis

Skeletal Limbs:
fibular aplasia

Clinical features from OMIM:

218550

Drugs & Therapeutics for Craniosynostosis with Fibular Aplasia

Search Clinical Trials , 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:

42
Bone, Brain, Lung, Skin, Testes

Publications for Craniosynostosis with Fibular Aplasia

Articles related to Craniosynostosis with Fibular Aplasia:

(show top 50) (show all 129)
# Title Authors Year
1
Severe Restrictive Lung Disease in One of the Oldest Documented Males With Coffin-Lowry Syndrome. ( 30791716 )
2019
2
The natural history of spinal deformity in patients with Coffin-Lowry syndrome. ( 29456757 )
2018
3
Periventricular small cystic lesions in a patient with Coffin-Lowry syndrome who exhibited a novel mutation in the RPS6KA3 gene. ( 29678278 )
2018
4
Selective alteration of adult hippocampal neurogenesis and impaired spatial pattern separation performance in the RSK2-deficient mouse model of Coffin-Lowry syndrome. ( 29627578 )
2018
5
Animal Models for Coffin-Lowry Syndrome: RSK2 and Nervous System Dysfunction. ( 29875643 )
2018
6
Growth Concerns in Coffin-Lowry Syndrome: A Case Report and Literature Review. ( 30740391 )
2018
7
Foramen magnum compression in Coffin-Lowry syndrome: A case report. ( 28190284 )
2017
8
Perioperative management of a patient with Coffin-Lowry syndrome complicated by severe obesity: A case report and literature review. ( 29245289 )
2017
9
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. ( 27495083 )
2016
10
Drop episodes improved after tracheotomy: a case of Coffin-Lowry syndrome associated with obstructive sleep apnea syndrome. ( 26914125 )
2016
11
Difficult airway management using the Pentax-AWS Airwayscope with a thin Intlock and bronchofiberscope in a patient with Coffin-Lowry syndrome. ( 26897436 )
2016
12
Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome. ( 26297997 )
2016
13
Mechanical ventilation in Coffin-Lowry syndrome: a case report. ( 28099645 )
2016
14
Rsk2, the Kinase Mutated in Coffin-Lowry Syndrome, Controls Cementum Formation. ( 26927527 )
2016
15
Loss of the Coffin-Lowry syndrome-associated gene RSK2 alters ERK activity, synaptic function and axonal transport in Drosophila motoneurons. ( 26398944 )
2015
16
Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome. ( 26279655 )
2015
17
A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C&amp;gt;T mutation associated with multiple abnormal brain imaging findings. ( 26043507 )
2015
18
Consider the neuro-cardiac continuum of Coffin-Lowry syndrome! ( 25974232 )
2015
19
The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients. ( 25044551 )
2014
20
Stimulus-induced myoclonus treated effectively with clonazepam in genetically confirmed Coffin-Lowry syndrome. ( 25667906 )
2014
21
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. ( 25118007 )
2014
22
Mitral and tricuspid valve surgery for Coffin-Lowry syndrome. ( 23873216 )
2013
23
Defective synaptic transmission and structure in the dentate gyrus and selective fear memory impairment in the Rsk2 mutant mouse model of Coffin-Lowry syndrome. ( 23742761 )
2013
24
Ocular surgery in a child with Coffin Lowry syndrome: Anesthetic concerns. ( 23493967 )
2013
25
Classic phenotype of Coffin-lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain. ( 24311527 )
2013
26
The Coffin-Lowry Syndrome-Associated Protein RSK2 Regulates Neurite Outgrowth through Phosphorylation of Phospholipase D1 (PLD1) and Synthesis of Phosphatidic Acid. ( 24336713 )
2013
27
Identification of the first deep intronic mutation in the RPS6KA3 gene in a patient with a severe form of Coffin-Lowry syndrome. ( 23261961 )
2013
28
Stimulus-induced drop episodes in Coffin-Lowry syndrome. ( 22490425 )
2012
29
Hypoplastic root cementum and premature loss of primary teeth in Coffin-Lowry syndrome: a case report. ( 21781198 )
2012
30
Transcriptome profile reveals AMPA receptor dysfunction in the hippocampus of the Rsk2-knockout mice, an animal model of Coffin-Lowry syndrome. ( 21116650 )
2011
31
Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern. ( 22009732 )
2011
32
Altered ERK/MAPK signaling in the hippocampus of the mrsk2_KO mouse model of Coffin-Lowry syndrome. ( 21838783 )
2011
33
A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome. ( 21614984 )
2011
34
Coffin-Lowry syndrome: a role for RSK2 in mammalian neurogenesis. ( 20832397 )
2010
35
Coffin-Lowry syndrome. ( 19888300 )
2010
36
The Coffin-Lowry syndrome-associated protein RSK2 and neurosecretion. ( 21061166 )
2010
37
The Coffin-Lowry syndrome: a case report and review of the literature. ( 20707959 )
2010
38
Four novel RSK2 mutations in females with Coffin-Lowry syndrome. ( 20637903 )
2010
39
The Coffin-Lowry syndrome-associated protein RSK2 controls neuroendocrine secretion through the regulation of phospholipase D1 at the exocytotic sites. ( 19161391 )
2009
40
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. ( 19903636 )
2009
41
The Coffin-Lowry syndrome-associated protein RSK2 is implicated in calcium-regulated exocytosis through the regulation of PLD1. ( 18550821 )
2008
42
Dopaminergic system dysregulation in the mrsk2_KO mouse, an animal model of the Coffin-Lowry syndrome. ( 18823370 )
2008
43
The musculoskeletal manifestations of the Coffin-Lowry syndrome. ( 17195803 )
2007
44
Treatment of drop attacks in Coffin-Lowry syndrome with the use of sodium oxybate. ( 17950427 )
2007
45
Deletion of the Coffin-Lowry syndrome gene Rsk2 in mice is associated with impaired spatial learning and reduced control of exploratory behavior. ( 17033934 )
2007
46
Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome. ( 17318637 )
2007
47
The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient. ( 17717706 )
2007
48
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome. ( 17586481 )
2007
49
Treatment of drop episodes in Coffin-Lowry syndrome. ( 16021355 )
2006
50
Coffin-Lowry syndrome: findings and dental treatment. ( 17249444 )
2006

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

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75 UMLS via Orphanet
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