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Aplasia of the 4th metacarpal

MedGen UID:: 869658
•Concept ID:: C4024086
•: Finding

Synonym:	Absent 4th long bone of hand

HPO:	HP:0010043

Definition

Absence of the fourth long bone of the hand. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAplasia of the 4th metacarpal

Aplasia/hypoplasia of the extremities
- Aplasia/hypoplasia involving bones of the extremities
  - Aplasia/hypoplasia involving bones of the upper limbs
    - Aplasia/hypoplasia involving bones of the hand
      - Aplasia/Hypoplasia involving the metacarpal bones
        Aplasia of metacarpal bones
        Aplasia of the 4th metacarpal

Conditions with this feature

Ulnar-mammary syndrome

MedGen UID:: 357886
•Concept ID:: C1866994
•: Disease or Syndrome

Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies (Bamshad et al., 1996).

See: Condition Record

Ulnar-mammary syndrome

Recent clinical studies

Etiology

On-top plasty using a free metacarpal head graft for lengthening of proximal phalanx in symbrachydactyly--a case report.

Iba K, Wada T, Yamashita T
Hand Surg 2013;18(2):273-5. doi: 10.1142/S0218810413720192. PMID: 24164137

Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.

Kimonis VE, Mehta SG, Digiovanna JJ, Bale SJ, Pastakia B
Genet Med 2004 Nov-Dec;6(6):495-502. doi: 10.1097/01.gim.0000145045.17711.1c. PMID: 15545745

Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.

Verloes A, David A, Ngô L, Bottani A
J Med Genet 1995 Aug;32(8):605-11. doi: 10.1136/jmg.32.8.605. PMID: 7473651 Free PMC Article

See all (3)

Diagnosis

Ophthalmo-acromelic syndrome in an infant.

Ürel-Demir G, Taşkıran EZ, Akgün-Doğan Ö, Şimşek-Kiper PÖ, Utine GE
Eur J Med Genet 2019 Jul;62(7):103664. Epub 2019 May 5 doi: 10.1016/j.ejmg.2019.05.003. PMID: 31067494

Nationwide Study of Turner Syndrome in Ukrainian Children: Prevalence, Genetic Variants and Phenotypic Features.

Zelinska N, Shevchenko I, Globa E
J Clin Res Pediatr Endocrinol 2018 Jul 31;10(3):256-263. Epub 2018 Feb 28 doi: 10.4274/jcrpe.5119. PMID: 29537378 Free PMC Article

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

Occult Compression Fracture of Metacarpal Head without Evidence of Avascular Necrosis.

Nishida K, Hashizume H, Matsukawa A, Hashizume K, Shimamura Y, Torigoe Y, Ozaki T
Acta Med Okayama 2013;67(5):311-7. doi: 10.18926/AMO/51867. PMID: 24145731

Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.

Verloes A, David A, Ngô L, Bottani A
J Med Genet 1995 Aug;32(8):605-11. doi: 10.1136/jmg.32.8.605. PMID: 7473651 Free PMC Article

See all (10)

Therapy

Pseudoaminopterin syndrome: clinical report with new characteristics.

Sobreira N, Cernach M, Batista D, Brunoni D, Perez A
Am J Med Genet A 2009 Dec;149A(12):2843-8. doi: 10.1002/ajmg.a.33125. PMID: 19938091

Limb anomalies in chromosomal aberrations.

Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

See all (2)

Prognosis

On-top plasty using a free metacarpal head graft for lengthening of proximal phalanx in symbrachydactyly--a case report.

Iba K, Wada T, Yamashita T
Hand Surg 2013;18(2):273-5. doi: 10.1142/S0218810413720192. PMID: 24164137

Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.

Verloes A, David A, Ngô L, Bottani A
J Med Genet 1995 Aug;32(8):605-11. doi: 10.1136/jmg.32.8.605. PMID: 7473651 Free PMC Article

See all (2)

Clinical prediction guides

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

Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations.

Schaefer E, Lauer J, Durand M, Pelletier V, Obringer C, Claussmann A, Braun JJ, Redin C, Mathis C, Muller J, Schmidt-Mutter C, Flori E, Marion V, Stoetzel C, Dollfus H
Clin Genet 2014 May;85(5):476-81. Epub 2013 Jun 12 doi: 10.1111/cge.12198. PMID: 23692385

Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: description of a second patient and exclusion of HOXD13.

Mendioroz J, Fernández-Toral J, Suárez E, López-Grondona F, Kjaer KW, Bermejo E, Martínez-Frías ML
Am J Med Genet A 2005 Jun 1;135(2):211-3. doi: 10.1002/ajmg.a.30728. PMID: 15887301

Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.

Verloes A, David A, Ngô L, Bottani A
J Med Genet 1995 Aug;32(8):605-11. doi: 10.1136/jmg.32.8.605. PMID: 7473651 Free PMC Article

Limb anomalies in chromosomal aberrations.

Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

See all (6)

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Aplasia of the 4th metacarpal

Definition

Term Hierarchy

Conditions with this feature

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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