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Brachydactyly type A7

MedGen UID:
929660
•Concept ID:
C4303991
•
Congenital Abnormality
Synonym: Brachydactyly Smorgasbord type
SNOMED CT: Brachydactyly type A7 (720571006); Brachydactyly Smorgasbord type (720571006)
 
Monarch Initiative: MONDO:0019679
Orphanet: ORPHA93397

Definition

A form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features. It has been reported in one family. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBrachydactyly type A7

Recent clinical studies

Diagnosis

Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl.
Zhou L, Wang T, Wang J
Ophthalmic Plast Reconstr Surg 2017 May/Jun;33(3S Suppl 1):S82-S84. doi: 10.1097/IOP.0000000000000708. PMID: 27115209
Thricho-rhino-phalangeal syndrome and severe osteoporosis: a rare association or a feature? An effective therapeutic approach with biphosphonates.
Macchiaiolo M, Mennini M, Digilio MC, Buonuomo PS, Lepri FR, Gnazzo M, Grandin A, Angioni A, Bartuli A
Am J Med Genet A 2014 Mar;164A(3):760-3. Epub 2013 Dec 19 doi: 10.1002/ajmg.a.36327. PMID: 24357341
A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH.
Nowakowska B, Kutkowska-Kaźmierczak A, Stankiewicz P, Bocian E, Obersztyn E, Ou Z, Cheung SW, Cai WW
Am J Med Genet A 2007 Aug 15;143A(16):1885-9. doi: 10.1002/ajmg.a.31845. PMID: 17632781

Therapy

Thricho-rhino-phalangeal syndrome and severe osteoporosis: a rare association or a feature? An effective therapeutic approach with biphosphonates.
Macchiaiolo M, Mennini M, Digilio MC, Buonuomo PS, Lepri FR, Gnazzo M, Grandin A, Angioni A, Bartuli A
Am J Med Genet A 2014 Mar;164A(3):760-3. Epub 2013 Dec 19 doi: 10.1002/ajmg.a.36327. PMID: 24357341

Prognosis

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.
Oldridge M, Fortuna AM, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara TM, Kimble RB, Valenzuela DM, Yancopoulos GD, Wilkie AO
Nat Genet 2000 Mar;24(3):275-8. doi: 10.1038/73495. PMID: 10700182

Clinical prediction guides

Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
Smithson SF, Grier D, Hall CM
Clin Dysmorphol 2009 Jan;18(1):31-35. doi: 10.1097/MCD.0b013e3283189762. PMID: 19050402
A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH.
Nowakowska B, Kutkowska-Kaźmierczak A, Stankiewicz P, Bocian E, Obersztyn E, Ou Z, Cheung SW, Cai WW
Am J Med Genet A 2007 Aug 15;143A(16):1885-9. doi: 10.1002/ajmg.a.31845. PMID: 17632781
Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.
Oldridge M, Fortuna AM, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara TM, Kimble RB, Valenzuela DM, Yancopoulos GD, Wilkie AO
Nat Genet 2000 Mar;24(3):275-8. doi: 10.1038/73495. PMID: 10700182

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