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Brachydactyly type D(BDD)

MedGen UID:
66313
•Concept ID:
C0220664
•
Congenital Abnormality
Synonym: STUB THUMB
SNOMED CT: Brachydactyly type D (890439005)
 
Gene (location): HOXD13 (2q31.1)
 
HPO: HP:0005627
Monarch Initiative: MONDO:0007222
OMIM®: 113200

Definition

Type D brachydactyly is defined as a short, broad distal phalanx in the thumb (summary by Johnson et al., 2003). [from OMIM]

Clinical features

From HPO
Brachydactyly type D
MedGen UID:
66313
•Concept ID:
C0220664
•
Congenital Abnormality
Type D brachydactyly is defined as a short, broad distal phalanx in the thumb (summary by Johnson et al., 2003).
See: Feature record | Search on this feature
Broad distal phalanx of the thumb
MedGen UID:
350887
•Concept ID:
C1863402
•
Finding
Increased width of the distal phalanx of thumb.
See: Feature record | Search on this feature
Broad distal phalanx of the hallux
MedGen UID:
869640
•Concept ID:
C4024068
•
Anatomical Abnormality
An increase in width of the distal phalanx of the big toe.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBrachydactyly type D

Conditions with this feature

Brachydactyly type D
MedGen UID:
66313
•Concept ID:
C0220664
•
Congenital Abnormality
Type D brachydactyly is defined as a short, broad distal phalanx in the thumb (summary by Johnson et al., 2003).
See: Condition Record
Hirschsprung disease-type D brachydactyly syndrome
MedGen UID:
375339
•Concept ID:
C1844017
•
Disease or Syndrome
Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.
See: Condition Record
Brachydactyly type D
Hirschsprung disease-type D brachydactyly syndrome

Professional guidelines

PubMed

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A
Nat Rev Endocrinol 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. PMID: 29959430Free PMC Article

Recent clinical studies

Etiology

Nonsyndromic brachydactyly type D and type E mapped to 7p15 in healthy children and adults from the Jirel ethnic group in eastern Nepal.
Williams KD, Blangero J, Subedi J, Jha B, Dyer T, Vandeberg JL, Towne B, Williams-Blangero S
Am J Hum Biol 2013 Nov-Dec;25(6):743-50. Epub 2013 Sep 10 doi: 10.1002/ajhb.22441. PMID: 24022874Free PMC Article
A GENETIC STUDY OF STUB THUMBS AMONG VARIOUS ETHNIC GROUPS IN ISRAEL.
GOODMAN RM, ADAM A, SHEBA C
J Med Genet 1965 Jun;2(2):116-21. doi: 10.1136/jmg.2.2.116. PMID: 14295653Free PMC Article

Diagnosis

Concomitance of types D and E brachydactyly: a case report.
Tülay Koca T, Çiledağ Özdemir F
Eur Rev Med Pharmacol Sci 2015 Dec;19(23):4549-52. PMID: 26698251

Clinical prediction guides

Aesthetic correction of short nail deformity in congenital brachydactyly Type D by distraction lengthening.
Jiang Y, Hou Z, Huang L, A Chi J, Zhang Y, Sun W
J Hand Surg Eur Vol 2022 Nov;47(10):1032-1038. Epub 2022 Jun 19 doi: 10.1177/17531934221106968. PMID: 35722929
Concomitance of types D and E brachydactyly: a case report.
Tülay Koca T, Çiledağ Özdemir F
Eur Rev Med Pharmacol Sci 2015 Dec;19(23):4549-52. PMID: 26698251
Nonsyndromic brachydactyly type D and type E mapped to 7p15 in healthy children and adults from the Jirel ethnic group in eastern Nepal.
Williams KD, Blangero J, Subedi J, Jha B, Dyer T, Vandeberg JL, Towne B, Williams-Blangero S
Am J Hum Biol 2013 Nov-Dec;25(6):743-50. Epub 2013 Sep 10 doi: 10.1002/ajhb.22441. PMID: 24022874Free PMC Article
Symphalangism with multiple anomalies of the hands and feet: a new genetic trait.
Learman Y, Katznelson MB, Bonné-Tamir B, Engel J, Hertz M, Goodman RM
Am J Med Genet 1981;10(3):245-55. doi: 10.1002/ajmg.1320100308. PMID: 6272576

Supplemental Content

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    Clinical resources

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      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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