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Aplasia of the ulna

MedGen UID:
394508
Concept ID:
C2678397
Congenital Abnormality; Finding
Synonym: Absent ulnae
 
HPO: HP:0003982

Definition

Missing ulna bone associated with congenital failure of development. [from HPO]

Conditions with this feature

Holt-Oram syndrome
MedGen UID:
120524
Concept ID:
C0265264
Disease or Syndrome
Holt-Oram syndrome (HOS) is characterized by upper-limb defects, congenital heart malformation, and cardiac conduction disease. Upper-limb malformations may be unilateral, bilateral/symmetric, or bilateral/asymmetric and can range from triphalangeal or absent thumb(s) to phocomelia. Other upper-limb malformations can include unequal arm length caused by aplasia or hypoplasia of the radius, fusion or anomalous development of the carpal and thenar bones, abnormal forearm pronation and supination, abnormal opposition of the thumb, sloping shoulders, and restriction of shoulder joint movement. An abnormal carpal bone is present in all affected individuals and may be the only evidence of disease. A congenital heart malformation is present in 75% of individuals with HOS and most commonly involves the septum. Atrial septal defect and ventricular septal defect can vary in number, size, and location. Complex congenital heart malformations can also occur in individuals with HOS. Individuals with HOS with or without a congenital heart malformation are at risk for cardiac conduction disease. While individuals may present at birth with sinus bradycardia and first-degree atrioventricular (AV) block, AV block can progress unpredictably to a higher grade including complete heart block with and without atrial fibrillation.
Acheiropodia
MedGen UID:
120547
Concept ID:
C0265559
Congenital Abnormality
Acheiropody is characterized by bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. Specific patterns of malformations consist of a complete amputation of the distal epiphysis of the humerus, amputation of the distal part of the tibial diaphysis, and aplasia of the radius, ulna, fibula, and of the carpal, metacarpal, tarsal, metatarsal, and phalangeal bones (summary by Ianakiev et al., 2001).
Roberts-SC phocomelia syndrome
MedGen UID:
95931
Concept ID:
C0392475
Disease or Syndrome
ESCO2 spectrum disorder is characterized by mild-to-severe prenatal growth restriction, limb malformations (which can include bilateral symmetric tetraphocomelia or hypomelia caused by mesomelic shortening), hand anomalies (including oligodactyly, thumb aplasia or hypoplasia, and syndactyly), elbow and knee flexion contractures (involving elbows, wrists, knees, ankles, and feet [talipes equinovarus]), and craniofacial abnormalities (which can include bilateral cleft lip and/or cleft palate, micrognathia, widely spaced eyes, exophthalmos, downslanted palpebral fissures, malar flattening, and underdeveloped ala nasi), ear malformation, and corneal opacities. Intellectual disability (ranging from mild to severe) is common. Early mortality is common among severely affected pregnancies and newborns; mildly affected individuals may survive to adulthood.
Ulnar agenesis and endocardial fibroelastosis
MedGen UID:
336387
Concept ID:
C1848649
Disease or Syndrome
Schinzel phocomelia syndrome
MedGen UID:
336388
Concept ID:
C1848651
Disease or Syndrome
The Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome (AARRS) is a rare autosomal recessive disorder characterized by severe malformations of upper and lower limbs with severely hypoplastic pelvis and abnormal genitalia. The disorder is believed to represent a defect of dorsoventral patterning and outgrowth of limbs (summary by Kantaputra et al., 2010).
Gollop-Wolfgang complex
MedGen UID:
341622
Concept ID:
C1856789
Disease or Syndrome
A very rare malformation with main features of ectrodactyly of the hand and ipsilateral bifurcation of the femur. Approximately 200 cases have been reported worldwide. Congenital aplasia/hypoplasia of the tibia, accompanied by pre-axial oligodactyly or monodactyly of the feet, may also be present. In most cases, the bifurcation of the distal femur is unilateral. Patients are often small. Autosomal dominant and autosomal recessive modes of transmission have been suggested.
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).

Professional guidelines

PubMed

Shen F, Yang Y, Li P, Zheng Y, Luo Z, Fu Y, Zhu G, Mei H, Chen S, Zhu Y
Mol Genet Genomic Med 2022 Jan;10(1):e1850. Epub 2021 Dec 24 doi: 10.1002/mgg3.1850. PMID: 34953066Free PMC Article
Geddis AE
Int J Lab Hematol 2013 Feb;35(1):14-25. Epub 2012 Jul 30 doi: 10.1111/j.1751-553X.2012.01454.x. PMID: 22846067
Pajkrt E, Cicero S, Griffin DR, van Maarle MC, Chitty LS
Prenat Diagn 2012 Nov;32(11):1084-93. Epub 2012 Aug 18 doi: 10.1002/pd.3962. PMID: 22903415

Recent clinical studies

Etiology

Górecki M, Redman M, Romanowski L, Czarnecki P
Eur J Orthop Surg Traumatol 2023 Jul;33(5):1981-1987. Epub 2022 Sep 6 doi: 10.1007/s00590-022-03381-1. PMID: 36068330Free PMC Article
Kim JM, London DA
J Am Acad Orthop Surg 2020 Oct 1;28(19):e839-e848. doi: 10.5435/JAAOS-D-19-00625. PMID: 32649440
Baek GH, Kim J
J Hand Surg Asian Pac Vol 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. PMID: 27595943
Miller JK, Wenner SM, Kruger LM
J Hand Surg Am 1986 Nov;11(6):822-9. doi: 10.1016/s0363-5023(86)80230-1. PMID: 3794237
Ogden JA, Watson HK, Bohne W
J Bone Joint Surg Am 1976 Jun;58(4):467-75. PMID: 818089

Diagnosis

Górecki M, Redman M, Romanowski L, Czarnecki P
Eur J Orthop Surg Traumatol 2023 Jul;33(5):1981-1987. Epub 2022 Sep 6 doi: 10.1007/s00590-022-03381-1. PMID: 36068330Free PMC Article
Xiong G, Yongbin Gao, Zhu J, Guo W, Sun J
J Hand Surg Am 2022 Jun;47(6):579.e1-579.e9. Epub 2021 Jul 17 doi: 10.1016/j.jhsa.2021.06.008. PMID: 34281749
Rutkowski PT, Samora JB
J Am Acad Orthop Surg 2021 Jul 1;29(13):563-570. doi: 10.5435/JAAOS-D-20-01133. PMID: 33826558
Mollen BP, Heesterbeek PJ, de Vos MJ, ten Ham AM
J Pediatr Orthop B 2014 Jul;23(4):379-82. doi: 10.1097/BPB.0000000000000049. PMID: 24732097
Andrews MA, Jayan KG
Rheumatol Int 2011 Sep;31(9):1231-3. Epub 2009 Dec 12 doi: 10.1007/s00296-009-1272-1. PMID: 20012626

Therapy

Li Y, Connelly SV
Am J Emerg Med 2021 Oct;48:378.e1-378.e2. Epub 2021 Apr 17 doi: 10.1016/j.ajem.2021.04.038. PMID: 33892938
Vergara-Amador E, López Rincón L, Herrera Rodríguez S
Rev Esp Cir Ortop Traumatol (Engl Ed) 2019 May-Jun;63(3):217-226. Epub 2018 Dec 9 doi: 10.1016/j.recot.2018.10.004. PMID: 30541698
Murphy GRF, Logan MPO, Smith G, Sivakumar B, Smith P
J Bone Joint Surg Am 2017 Dec 20;99(24):2120-2126. doi: 10.2106/JBJS.17.00164. PMID: 29257019Free PMC Article
Costopoulos CL, Abboud JA, Ramsey ML, Getz CL, Sholder DS, Taras JP, Huttman D, Lazarus MD
J Shoulder Elbow Surg 2017 Feb;26(2):295-298. doi: 10.1016/j.jse.2016.11.011. PMID: 28104092
Yoshida K, Kawabata H, Wada M
J Pediatr Orthop 2011 Sep;31(6):674-8. doi: 10.1097/BPO.0b013e318221ebe7. PMID: 21841444

Prognosis

Kim JM, London DA
J Am Acad Orthop Surg 2020 Oct 1;28(19):e839-e848. doi: 10.5435/JAAOS-D-19-00625. PMID: 32649440
Murphy GRF, Logan MPO, Smith G, Sivakumar B, Smith P
J Bone Joint Surg Am 2017 Dec 20;99(24):2120-2126. doi: 10.2106/JBJS.17.00164. PMID: 29257019Free PMC Article
Sachar K, Akelman E, Ehrlich MG
Hand Clin 1994 Aug;10(3):399-404. PMID: 7962146
Miller JK, Wenner SM, Kruger LM
J Hand Surg Am 1986 Nov;11(6):822-9. doi: 10.1016/s0363-5023(86)80230-1. PMID: 3794237
Ogden JA, Watson HK, Bohne W
J Bone Joint Surg Am 1976 Jun;58(4):467-75. PMID: 818089

Clinical prediction guides

Rutkowski PT, Samora JB
J Am Acad Orthop Surg 2021 Jul 1;29(13):563-570. doi: 10.5435/JAAOS-D-20-01133. PMID: 33826558
Baek GH, Kim J
J Hand Surg Asian Pac Vol 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. PMID: 27595943
Schmidt CC, Neufeld SK
Hand Clin 1998 Feb;14(1):65-76. PMID: 9526157
Miller JK, Wenner SM, Kruger LM
J Hand Surg Am 1986 Nov;11(6):822-9. doi: 10.1016/s0363-5023(86)80230-1. PMID: 3794237
Ogden JA, Watson HK, Bohne W
J Bone Joint Surg Am 1976 Jun;58(4):467-75. PMID: 818089

Recent systematic reviews

Barik S, Farr S, Gallone G, Zarantonello P, Trisolino G, Di Gennaro GL
J Pediatr Orthop B 2021 Nov 1;30(6):593-600. doi: 10.1097/BPB.0000000000000841. PMID: 33315801Free PMC Article
Twu J, Landy DC, Wolf JM
J Hand Surg Asian Pac Vol 2020 Mar;25(1):110-113. doi: 10.1142/S2424835520720017. PMID: 32000610
Murphy GRF, Logan MPO, Smith G, Sivakumar B, Smith P
J Bone Joint Surg Am 2017 Dec 20;99(24):2120-2126. doi: 10.2106/JBJS.17.00164. PMID: 29257019Free PMC Article
Yammine K
Clin Anat 2013 Sep;26(6):709-18. Epub 2013 Jul 3 doi: 10.1002/ca.22289. PMID: 23825029

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