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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).
Broad distal phalanx of the thumb
MedGen UID:
350887
Concept ID:
C1863402
Finding
Increased width of the distal phalanx of thumb.
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.

Term Hierarchy

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).
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.

Recent clinical studies

Etiology

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
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

Tülay Koca T, Çiledağ Özdemir F
Eur Rev Med Pharmacol Sci 2015 Dec;19(23):4549-52. PMID: 26698251

Clinical prediction guides

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
Tülay Koca T, Çiledağ Özdemir F
Eur Rev Med Pharmacol Sci 2015 Dec;19(23):4549-52. PMID: 26698251
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
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

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