Brachydactyly type B

Brachydactyly type B (BDB) is a very rare congenital malformation characterized by hypoplasia or aplasia of the terminal parts of fingers 2 to 5, with complete absence of the fingernails.



Input patient's signs and symptoms


Narrow down the case reports



Total: 11 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(63.5%)		 9546830
 Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome?
Ounap K, Justus I, Lipping-Sitska M.
Clin Dysmorphol. 1998;7(1):45-50.
Micrognathia High forehead Telecanthus
Child, Preschool Congenital Foot Deformity Congenital Hand Deformities Congenital Heart Defects Females Growth Disorders Homo sapiens Microcephaly Phenotype Syndrome
2
(50.3%)		 11932993
 A Thai mother and son with distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch: a new distal symphalangism syndrome?
Kantaputra PN, Kinoshita A, Limwonges C, Praditsup O, Niikawa N.
Am J Med Genet. 2002;109(1):56-60.
Microdontia Cone-shaped epiphysis
NOG ROR2 SON
Adult Child Dental Pulp Calcification Females Homo sapiens Male Syndrome Thailand Tooth Abnormalities
3
(45.9%)		 10457848
 Brachydactyly type B: case report and further evidence for clinical heterogeneity.
Slavotinek A, Clayton-Smith J.
Clin Dysmorphol. 1999;8(3):165-71.
Syndactyly Absent toe
Congenital Hand Deformities Homo sapiens Infant, Newborn Male Syndrome
4
(45.9%)		 22821638
 Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication.
Rambaud J, Marey I, Dupont C, Perrin-Sabourin L, Capri Y, Tabet AC, Benzacken B, Verloes A, Aboura A, Gerard M.
Am J Med Genet A. 2012;158A(9):2277-82.
Microcephaly Cleft lip
Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 9 Females Gene Duplication Homo sapiens Infant Magnetic Resonance Imaging
5
(40.0%)		 18440889
 P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes.
Hirshoren N, Gross M, Banin E, Sosna J, Bargal R, Raas-Rothschild A.
Eur J Med Genet. 2008;51(4):351-7.
Stapes ankylosis Brachydactyly Broad thumb
NOG
p|SUB|P|35|S;RS#:28937580 rs28937580
Adult Amino Acid Substitution Animals Ankylosis Carrier Proteins Females Homo sapiens Stapes Syndrome
6
(35.3%)		 22529972
(3329551)
 Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance.
Zimmer J, Doelken SC, Horn D, Groppe JC, Shore EM, Kaplan FS, Seemann P.
PLoS One. 2012;7(4):e35062.
Brachydactyly
BMP1 NOG
p|SUB|G|92|E;RS#:199566527
Amino Acid Substitution Animals Brachydactyly Carrier Proteins Chick Embryo Genetic Polymorphism Homo sapiens Infant Male Models, Molecular Mus Mutation Phenotype Protein Binding Protein Conformation
6
(35.3%)		 15996213
 Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand syndrome?
Sinkovec M, Petrovic D, Volk M, Peterlin B.
Clin Genet. 2005;68(2):155-60.
Brachydactyly
rs1553262007 rs267607582 rs57077886 rs57830985
Adult Age of Onset Cardiomyopathy, Dilated Congenital Foot Deformity Congenital Hand Deformities Females Heart Block Homo sapiens Male Middle Aged Phenotype Sinoatrial Block Sudden Cardiac Death Syndrome
6
(35.3%)		 15876517
 A female with Angelman syndrome and unusual limb deformities.
Oiglane-Shlik E, Rein R, Tillmann V, Talvik T, Ounap K.
Pediatr Neurol. 2005;33(1):66-9.
Delayed puberty Osteoporosis Brachydactyly
Angelman Syndrome Females Homo sapiens Limb Deformities, Congenital
6
(35.3%)		 3780038
 Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly.
Kumar D, Levick RK.
Clin Genet. 1986;30(3):219-25.
Anonychia Type B brachydactyly
Adult Dermatoglyphics Females Fingers Genes, Dominant Homo sapiens Male Nails, Malformed Syndrome
6
(35.3%)		 1081366
 Brachydactyly type B and symphalangism in different members of a Mexican family.
Zavala C, Hernandez-Ortiz J, Lisker R.
Ann Genet. 1975;18(2):131-4.
Brachydactyly
Adult Congenital Abnormality Dermatoglyphics Females Fingers Hand Homo sapiens Mexico Nails, Malformed Toes
        

Phenotype(s) retrieved from Orphanet

    Total: 10

HPO ID Term Frequency
HP:0001773 Short foot Very frequent (99-80%)
HP:0001817 Absent fingernail Very frequent (99-80%)
HP:0005831 Type B brachydactyly Very frequent (99-80%)
HP:0008083 2nd-5th toe middle phalangeal hypoplasia Very frequent (99-80%)
HP:0009882 Short distal phalanx of finger Very frequent (99-80%)
HP:0010049 Short metacarpal Very frequent (99-80%)
HP:0005048 Synostosis of carpal bones Occasional (29-5%)
HP:0006101 Finger syndactyly Occasional (29-5%)
HP:0009773 Symphalangism affecting the phalanges of the hand Occasional (29-5%)
HP:0010059 Broad hallux phalanx Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 9

HPO ID Term # of case reports
HP:0000252 Microcephaly 2
HP:0000939 Osteoporosis 1
HP:0001156 Brachydactyly 1
HP:0001159 Syndactyly 1
HP:0001508 Failure to thrive 1
HP:0001798 Anonychia 1
HP:0002748 Rickets 1
HP:0040160 Generalized osteoporosis 1
HP:0410030 Cleft lip 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
ROR2 receptor tyrosine kinase like orphan receptor 2 4920