Brachydactyly Type B malady

NIH Rare Diseases: Brachydactyly type B is a very rare genetic condition characterized by disproportionately short fingers and toes. The ends of the second and fifth fingers are usually underdeveloped with complete absence of the fingernails. The thumb bones are always intact but are frequently flattened and/or split. The feet are usually similarly affected, but less severely. Other features that may be present include webbed fingers (syndactyly) and fusion of the joints (symphalangism) and bones in the hands and feet. Only a few cases have been reported in the literature. This condition is caused by mutations in the ROR2 gene. Most cases have been shown to be inherited in an autosomal dominant fashion.³⁰

MalaCards: Brachydactyly Type B, also known as brachydactyly, type b, is related to brachydactyly and syndactyly. An important gene associated with Brachydactyly Type B is ROR2 (receptor tyrosine kinase-like orphan receptor 2). Related mouse phenotypes are craniofacial and hearing/vestibular/ear.

brachydactyly type b 30 brachydactyly, type b 32

brachydactyly 43

Disease types for brachydactyly family:

brachydactyly type e	brachydactyly type a1
brachydactyly type a2	brachydactyly type a3
brachydactyly type a4	brachydactyly type a5
brachydactyly type a6	brachydactyly type a7
brachydactyly type b	brachydactyly type c
brachydactyly type a1, b	brachydactyly type d
brachydactyly, type b1	brachydactyly, type b2
brachydactyly, type e2

Diseases related to brachydactyly type b by text searches and GeneDecks gene sharing:

(show top 50)    (show all 102)

id	Related Disease	Score	Top Affiliating Genes
1	brachydactyly	32.3	NOG, ROR2
2	syndactyly	27.6	ROR2, NOG
3	cushing's symphalangism	12.1	NOG, ROR2
4	osteosarcoma	12.1	NOG, ROR2
5	brachydactyly, type b1	8.7
6	brachydactyly type a1	8.4
7	brachydactyly type a2	8.2
8	brachydactyly type c	8.2
9	brachydactyly, type b2	8.2
10	robinow syndrome	8.2
11	brachydactyly type e	8.0
12	hypertension with brachydactyly	7.7
13	anonychia-onychodystrophy with brachydactyly type b and ectrodactyly	7.3
14	brachydactyly types b and e combined	7.3
15	brachydactyly type d	7.3
16	fibular hypoplasia and complex brachydactyly	7.3
17	brachydactyly-syndactyly syndrome	7.3
18	brachydactyly-mental retardation syndrome	7.1
19	temtamy preaxial brachydactyly syndrome	7.1
20	brachydactyly type a4	6.8
21	brachydactyly type a5	6.8
22	hypertension	6.8
23	thumb stiff brachydactyly mental retardation	6.5
24	brachydactyly long thumb type	6.5
25	brachydactyly mononen type	6.5
26	brachydactyly preaxial with hallux varus and thumb abduction	6.5
27	brachydactyly type a3	6.5
28	brachydactyly type a7	6.5
29	cryptomicrotia brachydactyly syndrome	6.5
30	hirschsprung disease type d brachydactyly	6.5
31	multiple synostoses syndrome 1	6.5
32	sugarman brachydactyly	6.5
33	2q37 deletion syndrome	6.1
34	brachydactyly absence of distal phalanges	6.1
35	brachydactyly anonychia	6.1
36	brachydactyly dwarfism mental retardation	6.1
37	brachydactyly elbow wrist dysplasia	6.1
38	brachydactyly mesomelia mental retardation heart defects	6.1
39	brachydactyly small stature face anomalies	6.1
40	brachydactyly tibial hypoplasia	6.1
41	brachydactyly type a6	6.1
42	brachydactyly type a1, b	6.1
43	brachydactyly, type e2	6.1
44	hoxd13-related brachydactyly	6.1
45	symphalangism brachydactyly craniosynostosis	6.1
46	camptobrachydactyly	5.6
47	exostoses anetodermia brachydactyly type e	5.6
48	fibula aplasia complex brachydactyly	5.6
49	growth deficiency brachydactyly unusual facies	5.6
50	metaphyseal dysplasia maxillary hypoplasia brachydactyly	5.6

Approved drugs:

Drug clinical trials:

MGI Mouse Phenotypes related to brachydactyly type b:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial phenotype	MP:0005382	9.1	NOG, ROR2
2	hearing/vestibular/ear phenotype	MP:0005377	9.0	NOG, ROR2
3	limbs/digits/tail phenotype	MP:0005371	8.8	NOG, ROR2

Articles related to brachydactyly type b:

(show all 13)

id	Title	Authors	Year	Affiliating Genes
1	Mutation analysis of the pathogenic gene in a Chines e family with Brachydactyly type B1]. (21377971)	Li C.M.... Feng H.G.	2011	ROR2
2	A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family. (19461659)	Lv D.... Zhang X.	2009	ROR2
3	Pregnancy after preimplantation genetic diagnosis for brachydactyly type B. (19146779)	Hellani A.... El-Akoum S.	2009	ROR2
4	A gradient of ROR2 protein stability and membrane loc alization confers brachydactyly type B or Robinow syndrome phenotypes. (19640924)	Schwarzer W.... Stricker S.	2009	ROR2
5	A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. (17668388)	Lehmann K.... Mundlos S.	2007	NOG, ROR2
6	Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome. (17061261)	Stricker S.... Mundlos S.	2006	ROR2
7	Brachydactyly type B1: report of a family with de novo ROR2 mutation. (17101003)	Hamamy H.... Ajlouni K.	2006	ROR2
8	Identification of a recurrent mutation in the ROR2 gene in a Chinese family with brachydactyly type B (14767912)	Yang W.... Zhang X.	2004	ROR2
9	One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B. (12815588)	Afzal A.R.... Jeffery S.	2003	ROR2
10	Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. (10700182)	Oldridge M.... Wilkie A.O.M.	2000	ROR2
11	Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. (10986040)	Schwabe G.C.... Mundlos S.	2000	ROR2
12	Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. (10932186)	Afzal A.R.... Jeffery S.	2000	ROR2
13	Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity. (9973296)	Oldridge M.... Wilkie A.O.	1999	ROR2

Genes related to brachydactyly type b according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	ROR2	receptor tyrosine kinase-like orphan receptor 2	11.1	Publications, Summaries
2	NOG	noggin	11.0	Publications

Biological processes related to brachydactyly type b according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of canonical Wnt receptor signaling pathway	GO:090090	9.1	NOG, ROR2