Klippel-feil Syndrome malady

NINDS: Klippel-Feil Syndrome is a rare disorder characterized by the congenital fusion of any 2 of the 7 cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. The most common signs of the disorder are short neck, low hairline at the back of the head, and restricted mobility of the upper spine. Associated abnormalities may include (curvature of the spine), (a birth defect of the spine), anomalies of the kidneys and the ribs, cleft palate, respiratory problems, and heart malformations. The disorder also may be associated with abnormalities of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, and fingers.³¹

MalaCards: Klippel-feil Syndrome, also known as klippel-feil syndrome, autosomal dominant, is related to diamond-blackfan anemia and cervicitis. An important gene associated with Klippel-feil Syndrome is GDF6 (growth differentiation factor 6). Affiliated tissues include cervical vertebra, brain and spinal cord.

Disease Ontology: A congenital disorder that has material basis in abnormal segementation of the vertebra during fetal development which results in fusion located in cervical vertebra.⁶

NIH Rare Diseases: Klippel Feil syndrome is a musculoskeletal disorder that is present from birth. It is characterized by the fusion of at least two vertebrae of the neck. Most cases are sporadic but in some cases, it can be inherited in an autosomal dominant or autosomal recessive fashion. Common symptoms of Klippel Feil syndrome include short neck, low hairline at the back of the head, and restricted mobility of the upper spine.³⁰

Genetics Home Reference: Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae), which is present from birth. Three major features result from this abnormality: a short neck, a limited range of motion in the neck, and a low hairline at the back of the head. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition.¹⁷

Wikipedia: Klippel–Feil syndrome is a rare disease, initially reported in 1912 by Maurice Klippel and André Feil...⁴⁴ more...

Aliases & Descriptions:

klippel-feil syndrome 6 7 17 31 8 klippel-feil syndrome, autosomal dominant 6 43 klippel feil syndrome 30 16 klippel-feil deformity, deafness, and facial asymmetry 6 cervical vertebral fusion autosomal recessive 30 cervical vertebral fusion autosomal dominant 30 klippel feil syndrome autosomal recessive 30 autosomal dominant klippel-feil syndrome 6 klippel feil syndrome autosomal dominant 30

vertebral cervical fusion syndrome 17 congenital dystrophia brevicollis 6 klippel-feil and turner syndrome 6 cervical vertebral fusion 30 neonatal hemochromatosis 43 cervical fusion syndrome 17 cervical syndrome 43 putti's syndrome 43 kfs 17

Diseases related to klippel-feil syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 146)

id	Related Disease	Score	Top Affiliating Genes
1	diamond-blackfan anemia	30.3	RPS26, RPS26P6
2	cervicitis	29.7	NCL, KIR2DS4, PAX1, GDF3, GDF6
3	coloboma	27.1	GDF6, GDF3, KIR2DS4
4	microphthalmia with coloboma 6	13.0	GDF3, GDF6
5	macrocytic anemia	12.7	RPS26, RPS26P6
6	spondylocostal dysostosis	12.6	PAX1, TBX6
7	aniridia	12.3	PAX1, KIR2DS4
8	waardenburg's syndrome	12.2	PAX1, KIR2DS4
9	neonatal hemochromatosis	9.2
10	frontonasal dysplasia klippel feil syndrome	8.4
11	klippel-feil syndrome with laryngeal malformation	8.4
12	klippel-feil syndrome 3, autosomal dominant	8.4
13	klippel-feil syndrome 1, autosomal dominant	8.4
14	klippel-feil syndrome 2, autosomal recessive	8.4
15	anemia	7.5
16	segmentation syndrome 1	7.5
17	hemochromatosis	7.3
18	facio-auriculo-vertebral syndrome	6.9
19	otofaciocervical syndrome	6.2
20	charcot-marie-tooth disease type 1	5.9
21	congenital cataracts, facial dysmorphism, and neuropathy	5.9
22	congenital contractures	5.9
23	congenital pseudoarthrosis	5.9
24	congenital myopathy, undefined/nonspecific	5.9
25	hereditary sensory and autonomic neuropathy iv	5.9
26	mayer-rokitansky-kuster-hauser syndrome	5.9
27	x-linked adrenal hypoplasia congenita	5.9
28	congenital fiber-type disproportion	5.9
29	congenital craniosynostosis maternal hyperthyroiditis	5.9
30	congenital short femur	5.9
31	congenital plasminogen deficiency	5.9
32	hereditary congenital facial paresis	5.9
33	myosclerosis, autosomal recessive	5.9
34	x-linked juvenile retinoschisis	5.9
35	clubfoot	5.9
36	congenital fibrosis of the extraocular muscles	5.9
37	congenital cystic eye	5.9
38	congenital stenosis of cervical medullary canal	5.9
39	congenital heart defects, nonsyndromic, 1, x-linked	5.9
40	hereditary congenital ptosis	5.9
41	non-congenital cyst of kidney	5.9
42	congenital bile acid synthesis defect	5.9
43	congenital stromal corneal dystrophy	5.9
44	congenital cystic eye multiple ocular and intracranial anomalies	5.9
45	congenital torticollis	5.9
46	cap myopathy	5.9
47	hereditary sensory and autonomic neuropathy type v	5.9
48	norrie disease	5.9
49	congenital epulis	5.9
50	congenital absence of the sternocleidomastoid muscle	5.9

Approved drugs:

Drug clinical trials:

Genetic tests related to klippel-feil syndrome:

id	Genetic test	Affiliating Genes
1	Klippel-feil Syndrome clinical/research	GDF6

MalaCards organs/tissues related to klippel-feil syndrome:

²²

FMA organs/tissues related to klippel-feil syndrome:

¹¹

Articles related to klippel-feil syndrome:

id	Title	Authors	Year	Affiliating Genes
1	Can mutations in the ribosomal protein S26 (RPS26) ge ne lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry. (21414820)	Cmejla R.... Pospisilova D.	2011	RPS26
2	Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. (18425797)	Tassabehji M.... Clarke R.A.	2008	GDF6
3	Mutations in PAX1 may be associated with Klippel-Feil syndrome. (12774041)	McGaughran J.M.... Tassabehji M.	2003	PAX1, KIR2DS4
4	The dysmorphic cervical spine in Klippel-Feil syndrome: interpretations from developmental biology. (16972746)	David K.M.... Crockard H.A.	1999	PAX1
5	Split cervical spinal cord with Klippel-Feil syndrome: seven cases. (9009993)	David K.M.... Crockard H.A.	1996	PAX1
6	Cervical vertebral fusion (Klippel-Feil) syndrome with consanguineous parents. (933127)	Juberg R.C.... Gershanik J.J.	1976	GDF6

Genes related to klippel-feil syndrome according to GeneCards:

(show all 11)

id	Symbol	Description	Score	GeneCards Section Context
1	GDF6	growth differentiation factor 6	11.1	Summaries, Aliases & Descriptions, Publications
2	KFM	Klippel-Feil malformation	11.1
3	GDF3	growth differentiation factor 3	11.1
4	RPS26P6	ribosomal protein S26 pseudogene 6	11.0	Disorders
5	PAX1	paired box 1	11.0	Publications
6	GDF1	growth differentiation factor 1	11.0	Disorders
7	RPS26	ribosomal protein S26	11.0	Publications
8	TBX6	T-box 6	11.0	Disorders
9	ADCK2	aarF domain containing kinase 2	11.0	Disorders
10	KIR2DS4	killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4	11.0	Publications
11	NCL	nucleolin	11.0

Biological processes related to klippel-feil syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	mesoderm development	GO:007498	9.6	TBX6, GDF3
2	growth	GO:040007	9.2	GDF1, GDF3, GDF6

Molecular functions related to klippel-feil syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	growth factor activity	GO:008083	9.5	GDF1, GDF3, GDF6
2	cytokine activity	GO:005125	9.2	GDF1, GDF3, GDF6