Brachydactyly type C

Brachydactyly type C (BDC) is a very rare congenital malformation characterized by brachymesophalangy of the index, middle and little fingers, with hyperphalangy of the index and middle finger and shortening of the 1st metacarpal. Only few families with BDC have been reported in the literature. The ring finger is usually the longest digit. Short metacarpals and symphalangism are occasionally present. Heterozygous mutations in the cartilage-derived morphogenetic protein 1, also known as growth/differentiation factor-5 gene (<i>GDF5</i>), have been reported in BDC patients. Many studies support an autosomal dominant mode of inheritance.



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Narrow down the case reports



Total: 9 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(49.0%)		 11172365
 Brachydactyly type C.
Burgess RC.
J Hand Surg Am. 2001;26(1):31-9.
Small finger
Adult Child, Preschool Chromosome Aberrations Congenital Hand Deformities Females Fingers Gene Expression Genes, Dominant Homo sapiens Infant Male Metacarpus
2
(45.7%)		 26275437
 Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5.
Martinez-Garcia M, Garcia-Canto E, Fenollar-Cortes M, Aytes AP, Trujillo-Tiebas MJ.
J Bone Miner Metab. 2016;34(5):599-603.
Micromelia
GDF5
p|SUB|R|377|W;RS#:770941419
Amino Acid Motifs Child, Preschool Females Homo sapiens Male Osteochondrodysplasias Protein Precursors
3
(37.8%)		 15565340
 Angel-shaped phalanges in brachydactyly C: a case report, and speculation on pathogenesis.
Castriota-Scanderbeg A, Garaci FG, Beluffi G.
Pediatr Radiol. 2005;35(5):535-8.
Brachydactyly Triangular epiphyses
Adult Bone Diseases, Developmental Congenital Hand Deformities Females Fingers Follow-Up Studies Homo sapiens Infant, Newborn Metacarpus
4
(37.1%)		 22828468
 A novel mutation in CDMP1 causes brachydactyly type C with "angel-shaped phalanx". A genotype-phenotype correlation in the mutational spectrum.
Gutierrez-Amavizca BE, Brambila-Tapia AJ, Juarez-Vazquez CI, Holder-Espinasse M, Manouvrier-Hanu S, Escande F, Barros-Nunez P.
Eur J Med Genet. 2012;55(11):611-4.
Brachydactyly Angel-shaped phalanx
GDF5
Bone Diseases, Developmental Brachydactyly Child Fingers Genetic Association Studies Heterozygote Homo sapiens Male Sequence Deletion
5
(35.3%)		 23483675
(3589643)
 Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement.
Seo SH, Park MJ, Kim SH, Kim OH, Park S, Cho SI, Park SS, Seong MW.
Ann Lab Med. 2013;33(2):150-2.
Brachydactyly
GDF5
c|SUB|C|1312|T p|SUB|R|438|C
Asians Brachydactyly Child DNA Mutational Analysis Females Fingers Homo sapiens Mutation South Korea
5
(35.3%)		 11837604
 Intrafamilial clinical variability in type C brachydactyly.
Debeer P, De Smet L, Fryns JP.
Genet Couns. 2001;12(4):353-8.
Type C brachydactyly
Congenital Hand Deformities Genes, Dominant Homo sapiens Male Mutation
5
(35.3%)		 9024575
 Clinical and locus heterogeneity in brachydactyly type C.
Robin NH, Gunay-Aygun M, Polinkovsky A, Warman ML, Morrison S.
Am J Med Genet. 1997;68(3):369-77.
Brachydactyly
rs74315386
Adult Aged, 80 and over Child Chromosome Deletion Chromosomes, Human, Pair 12 Congenital Foot Deformity Congenital Hand Deformities Females Heterozygote Homo sapiens Male Middle Aged
5
(35.3%)		 6694344
 [C brachydactyly in four generations].
Aksu F, Mietens C.
Klin Padiatr. 1984;196(1):52-4.
Brachydactyly
Females Fingers Homo sapiens Infant, Newborn Sex Factors
9
(4.0%)		 1583664
 Brachydactyly type C associated with shortening of the hallux.
Rowe-Jones JM, Moss AL, Patton MA.
J Med Genet. 1992;29(5):346-8.
Cupped ear
Females Fingers Homo sapiens Male Middle Aged Toes
        

Phenotype(s) retrieved from Orphanet

    Total: 14

HPO ID Term Frequency
HP:0005819 Short middle phalanx of finger Very frequent (99-80%)
HP:0009373 Type C brachydactyly Very frequent (99-80%)
HP:0009465 Ulnar deviation of finger Very frequent (99-80%)
HP:0009495 Pseudoepiphyses of the 2nd finger Very frequent (99-80%)
HP:0010026 Aplasia/Hypoplasia of the 1st metacarpal Very frequent (99-80%)
HP:0001231 Abnormal fingernail morphology Frequent (79-30%)
HP:0009606 Complete duplication of distal phalanx of the thumb Frequent (79-30%)
HP:0009684 Stippling of the epiphysis of the distal phalanx of the thumb Frequent (79-30%)
HP:0010579 Cone-shaped epiphysis Frequent (79-30%)
HP:0010743 Short metatarsal Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Occasional (29-5%)
HP:0004322 Short stature Occasional (29-5%)
HP:0009773 Symphalangism affecting the phalanges of the hand Occasional (29-5%)
HP:0010508 Metatarsus valgus Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0010587 Triangular epiphyses 1
HP:0032078 Angel-shaped phalanx 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
BMPR1B bone morphogenetic protein receptor type 1B 658
GDF5 growth differentiation factor 5 8200