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.



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Narrow down the case reports



Total: 11 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
11
(4.0%)
12490984
Pancreatic cystic dysplasia (dysgenesis) presenting as a surgical pathology specimen in a patient with multiple malformations and familial ear pits.
Drut R, Drut M.
Int J Surg Pathol. 2002;10(4):303-8.
Hamartoma
Biological Markers External Ear Females Homo sapiens Immunohistochemistry Infant Male Pancreas Pancreatic Cyst
        

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