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Brachydactyly type C(BDC)

MedGen UID:: 350590
•Concept ID:: C1862103
•: Congenital Abnormality; Disease or Syndrome

Synonyms:	BDC; Brachydactyly Haws type
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal recessive inheritance (Orphanet) Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	GDF5 (20q11.22)

HPO:	HP:0009373
Monarch Initiative:	MONDO:0007221
OMIM®:	113100
Orphanet:	ORPHA93384

Definition

The brachydactyly type C (BDC) phenotype includes brachymesophalangy of fingers 2, 3, and 5. The fourth finger is usually unaffected and thus appears as the longest finger of the hand. Shortening of metacarpal 1 and hyperphalangy in fingers 2 and 3 may occur and can be considered relatively characteristic signs. BDC can be highly variable, ranging from severely affected hands with very short fingers to mildly affected cases with only moderate brachydactyly, most often affecting the middle and proximal phalanges of fingers 2 and 3 (summary by Lehmann et al., 2006). [from OMIM]

Clinical features

From HPO

Clubfoot

MedGen UID:: 3130
•Concept ID:: C0009081
•: Congenital Abnormality

Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).

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Madelung deformity

MedGen UID:: 57537
•Concept ID:: C0152441
•: Congenital Abnormality

An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna.

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Brachydactyly

MedGen UID:: 67454
•Concept ID:: C0221357
•: Congenital Abnormality

Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.

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Talipes equinovalgus

MedGen UID:: 78567
•Concept ID:: C0265642
•: Congenital Abnormality

A deformity of foot and ankle in which the foot is bent down and outwards.

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Postaxial hand polydactyly

MedGen UID:: 609221
•Concept ID:: C0431904
•: Congenital Abnormality

Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).

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Short middle phalanx of the 5th finger

MedGen UID:: 322335
•Concept ID:: C1834060
•: Anatomical Abnormality

Hypoplastic/small middle phalanx of the fifth finger.

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Ulnar deviation of the 2nd finger

MedGen UID:: 336806
•Concept ID:: C1844891
•: Finding

Displacement of the 2nd (index) finger towards the ulnar side.

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Short 1st metacarpal

MedGen UID:: 376561
•Concept ID:: C1849311
•: Finding

A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.

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Clinodactyly of the 5th finger

MedGen UID:: 340456
•Concept ID:: C1850049
•: Congenital Abnormality

Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).

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Cone-shaped epiphyses of the middle phalanges of the hand

MedGen UID:: 348715
•Concept ID:: C1860828
•: Finding

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Short 2nd finger

MedGen UID:: 396302
•Concept ID:: C1862142
•: Finding

Hypoplasia of the second finger, also known as the index finger.

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Ulnar deviation of the 3rd finger

MedGen UID:: 767528
•Concept ID:: C3554614
•: Finding

Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger).

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Triangular shaped proximal phalanx of the 2nd finger

MedGen UID:: 867074
•Concept ID:: C4021432
•: Anatomical Abnormality

Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.

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Short middle phalanx of the 2nd finger

MedGen UID:: 867077
•Concept ID:: C4021435
•: Anatomical Abnormality

Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger.

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Triangular epiphysis of the proximal phalanx of the 2nd finger

MedGen UID:: 867096
•Concept ID:: C4021454
•: Anatomical Abnormality

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Enlarged epiphysis of the proximal phalanx of the 2nd finger

MedGen UID:: 867097
•Concept ID:: C4021455
•: Anatomical Abnormality

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Pseudoepiphysis of the 2nd finger

MedGen UID:: 867107
•Concept ID:: C4021465
•: Anatomical Abnormality

A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.

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Short 3rd finger

MedGen UID:: 867111
•Concept ID:: C4021469
•: Anatomical Abnormality

Hypoplastic/small 3rd (middle) finger.

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Short middle phalanx of the 3rd finger

MedGen UID:: 867116
•Concept ID:: C4021474
•: Anatomical Abnormality

Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger.

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Pseudoepiphyses of the 3rd finger

MedGen UID:: 867122
•Concept ID:: C4021480
•: Anatomical Abnormality

A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.

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Triangular epiphysis of the proximal phalanx of the 3rd finger

MedGen UID:: 867129
•Concept ID:: C4021487
•: Anatomical Abnormality

A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.

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Enlarged epiphysis of the proximal phalanx of the 3rd finger

MedGen UID:: 867130
•Concept ID:: C4021488
•: Anatomical Abnormality

Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms.

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Triangular epiphysis of the middle phalanx of the 3rd finger

MedGen UID:: 867132
•Concept ID:: C4021490
•: Anatomical Abnormality

A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.

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Hypersegmentation of proximal phalanx of third finger

MedGen UID:: 868719
•Concept ID:: C4023122
•: Anatomical Abnormality

Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger.

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Triangular shaped middle phalanx of the 2nd finger

MedGen UID:: 869852
•Concept ID:: C4024283
•: Anatomical Abnormality

Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.

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Triangular epiphysis of the middle phalanx of the 2nd finger

MedGen UID:: 869879
•Concept ID:: C4024310
•: Anatomical Abnormality

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Enlarged epiphysis of the middle phalanx of the 2nd finger

MedGen UID:: 869886
•Concept ID:: C4024317
•: Anatomical Abnormality

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Triangular shaped proximal phalanx of the 3rd finger

MedGen UID:: 869918
•Concept ID:: C4024349
•: Anatomical Abnormality

Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.

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Triangular shaped middle phalanx of the 3rd finger

MedGen UID:: 869931
•Concept ID:: C4024362
•: Anatomical Abnormality

Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.

See: Feature record | Search on this feature

Enlarged epiphysis of the middle phalanx of the 3rd finger

MedGen UID:: 870010
•Concept ID:: C4024441
•: Anatomical Abnormality

Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms.

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Hypersegmentation of proximal phalanx of second finger

MedGen UID:: 870628
•Concept ID:: C4025080
•: Anatomical Abnormality

Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger.

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Angel-shaped phalanx

MedGen UID:: 1686151
•Concept ID:: C5139114
•: Anatomical Abnormality

A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are

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Short stature

MedGen UID:: 87607
•Concept ID:: C0349588
•: Finding

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

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Delayed skeletal maturation

MedGen UID:: 108148
•Concept ID:: C0541764
•: Finding

A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.

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Abnormality of limbs
Abnormality of the musculoskeletal system
- Delayed skeletal maturation
Growth abnormality
- Short stature

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVBrachydactyly type C

Abnormality of prenatal development or birth
- Fetal anomaly
  - Congenital Systemic Disorder
    - Congenital anomaly of musculoskeletal system
      - Congenital deformities of limbs
        Brachydactyly
        Brachydactyly type C

Follow this link to review classifications for Brachydactyly type C in Orphanet.

Recent clinical studies

Etiology

Genetics, Clinical Presentation, Radiological Features, and Midterm Outcome of Closing Wedge Osteotomy in Children With Brachydactyly Type C.

Al-Qattan MM
Ann Plast Surg 2022 Jul 1;89(1):42-48. Epub 2022 Apr 23 doi: 10.1097/SAP.0000000000003211. PMID: 35502951

Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?

Stange K, Ott CE, Schmidt-von Kegler M, Gillesen-Kaesbach G, Mundlos S, Dathe K, Seemann P
J Hum Genet 2015 Aug;60(8):419-25. Epub 2015 May 21 doi: 10.1038/jhg.2015.48. PMID: 25994865

Angel-shaped phalanges in brachydactyly C: a case report, and speculation on pathogenesis.

Castriota-Scanderbeg A, Garaci FG, Beluffi G
Pediatr Radiol 2005 May;35(5):535-8. Epub 2004 Nov 23 doi: 10.1007/s00247-004-1362-x. PMID: 15565340

Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2.

Sammar M, Stricker S, Schwabe GC, Sieber C, Hartung A, Hanke M, Oishi I, Pohl J, Minami Y, Sebald W, Mundlos S, Knaus P
Genes Cells 2004 Dec;9(12):1227-38. doi: 10.1111/j.1365-2443.2004.00799.x. PMID: 15569154

See all (4)

Diagnosis

Frameshift Mutation in a Chinese Patient with Brachydactyly Type C Involving the Third Metacarpal: A Case Report.

Li Q, Bai F, Chen S
Orthop Surg 2022 Sep;14(9):2386-2390. Epub 2022 Jul 12 doi: 10.1111/os.13383. PMID: 35819086 Free PMC Article

Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho-rhino-phalangeal syndrome type III.

Ullah A, Umair M, Hussain S, Jan A, Ahmad W
Pediatr Int 2018 Mar;60(3):304-306. Epub 2018 Feb 13 doi: 10.1111/ped.13473. PMID: 29436063

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 Mar;33(2):150-2. Epub 2013 Feb 21 doi: 10.3343/alm.2013.33.2.150. PMID: 23483675 Free PMC Article

A novel mutation in CDMP1 causes brachydactyly type C with "angel-shaped phalanx". A genotype-phenotype correlation in the mutational spectrum.

Gutiérrez-Amavizca BE, Brambila-Tapia AJ, Juárez-Vázquez CI, Holder-Espinasse M, Manouvrier-Hanu S, Escande F, Barros-Núñez P
Eur J Med Genet 2012 Nov;55(11):611-4. Epub 2012 Jul 22 doi: 10.1016/j.ejmg.2012.07.004. PMID: 22828468

Pitfalls of genetic counselling in brachydactyly type C.

Camera G, Camera A, Costa M, Mantero R
Am J Med Genet 1994 Nov 1;53(2):199-201. doi: 10.1002/ajmg.1320530216. PMID: 7856649

See all (6)

Prognosis

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 Sep;34(5):599-603. Epub 2015 Aug 15 doi: 10.1007/s00774-015-0693-z. PMID: 26275437

Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?

Stange K, Ott CE, Schmidt-von Kegler M, Gillesen-Kaesbach G, Mundlos S, Dathe K, Seemann P
J Hum Genet 2015 Aug;60(8):419-25. Epub 2015 May 21 doi: 10.1038/jhg.2015.48. PMID: 25994865

Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C.

Al-Qattan MM, Al-Motairi MI, Al Balwi MA
Am J Med Genet A 2015 Jul;167(7):1621-6. Epub 2015 Mar 28 doi: 10.1002/ajmg.a.37040. PMID: 25820810

Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.

Yang W, Cao L, Liu W, Jiang L, Sun M, Zhang D, Wang S, Lo WHY, Luo Y, Zhang X
J Hum Genet 2008;53(4):368-374. Epub 2008 Feb 19 doi: 10.1007/s10038-008-0253-7. PMID: 18283415

Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.

Savarirayan R, White SM, Goodman FR, Graham JM Jr, Delatycki MB, Lachman RS, Rimoin DL, Everman DB, Warman ML
Am J Med Genet A 2003 Mar 1;117A(2):136-42. doi: 10.1002/ajmg.a.10924. PMID: 12567410

See all (7)

Clinical prediction guides

Genetics, Clinical Presentation, Radiological Features, and Midterm Outcome of Closing Wedge Osteotomy in Children With Brachydactyly Type C.

Al-Qattan MM
Ann Plast Surg 2022 Jul 1;89(1):42-48. Epub 2022 Apr 23 doi: 10.1097/SAP.0000000000003211. PMID: 35502951

Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?

Stange K, Ott CE, Schmidt-von Kegler M, Gillesen-Kaesbach G, Mundlos S, Dathe K, Seemann P
J Hum Genet 2015 Aug;60(8):419-25. Epub 2015 May 21 doi: 10.1038/jhg.2015.48. PMID: 25994865

Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C.

Al-Qattan MM, Al-Motairi MI, Al Balwi MA
Am J Med Genet A 2015 Jul;167(7):1621-6. Epub 2015 Mar 28 doi: 10.1002/ajmg.a.37040. PMID: 25820810

Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.

Savarirayan R, White SM, Goodman FR, Graham JM Jr, Delatycki MB, Lachman RS, Rimoin DL, Everman DB, Warman ML
Am J Med Genet A 2003 Mar 1;117A(2):136-42. doi: 10.1002/ajmg.a.10924. PMID: 12567410

Intrafamilial clinical variability in type C brachydactyly.

Debeer P, De Smet L, Fryns JP
Genet Couns 2001;12(4):353-8. PMID: 11837604

See all (9)

Recent systematic reviews

GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations.

Genovesi ML, Guadagnolo D, Marchionni E, Giovannetti A, Traversa A, Panzironi N, Bernardo S, Palumbo P, Petrizzelli F, Carella M, Mazza T, Pizzuti A, Caputo V
Bone 2021 Mar;144:115803. Epub 2021 Jan 12 doi: 10.1016/j.bone.2020.115803. PMID: 33333243

See all (1)

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Brachydactyly type C(BDC)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

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