Brachydactyly type B2

A rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 26211601
 Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes.
Ishino T, Takeno S, Hirakawa K.
Eur J Med Genet. 2015;58(9):427-32.
Stapes ankylosis
NOG
c|SUB|T|682|G p|SUB|C|228|G
Amino Acid Sequence Asians Carrier Proteins Congenital Foot Deformity Congenital Hand Deformities Females Genetic Association Studies Haploinsufficiency Homo sapiens Male Molecular Sequence Data Mutation Phenotype Protein Conformation Stapes Tarsal Bones Toes
        

Phenotype(s) retrieved from Orphanet

    Total: 9

HPO ID Term Frequency
HP:0001773 Short foot Very frequent (99-80%)
HP:0001817 Absent fingernail Very frequent (99-80%)
HP:0001831 Short toe Very frequent (99-80%)
HP:0001857 Short distal phalanx of toe Very frequent (99-80%)
HP:0005831 Type B brachydactyly Very frequent (99-80%)
HP:0009882 Short distal phalanx of finger Very frequent (99-80%)
HP:0005048 Synostosis of carpal bones Frequent (79-30%)
HP:0006101 Finger syndactyly Frequent (79-30%)
HP:0009773 Symphalangism affecting the phalanges of the hand Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
NOG noggin 9241