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Aplasia/hypoplasia involving bones of the upper limbs

MedGen UID:
870586
•Concept ID:
C4025035
•
Finding
Synonyms: Absent/small bones of the upper limbs; Absent/underdeveloped bones of the upper limbs
 
HPO: HP:0006496

Definition

Absence (due to failure to form) or underdevelopment of the bones of the upper limbs. [from HPO]

Recent clinical studies

Etiology

Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities.
Kamal L, Pierce SB, Canavati C, Rayyan AA, Jaraysa T, Lobel O, Lolas S, Norquist BM, Rabie G, Zahdeh F, Levy-Lahad E, King MC, Kanaan MN
Cold Spring Harb Mol Case Stud 2020 Oct;6(5) Epub 2020 Oct 7 doi: 10.1101/mcs.a005652. PMID: 33028645Free PMC Article
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.
Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, Sutton VR, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, Lewis RA, Lee BH, Lalani SR, Campeau PM
Cold Spring Harb Mol Case Stud 2017 Mar;3(2):a000984. doi: 10.1101/mcs.a000984. PMID: 28299356Free PMC Article

Diagnosis

Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities.
Kamal L, Pierce SB, Canavati C, Rayyan AA, Jaraysa T, Lobel O, Lolas S, Norquist BM, Rabie G, Zahdeh F, Levy-Lahad E, King MC, Kanaan MN
Cold Spring Harb Mol Case Stud 2020 Oct;6(5) Epub 2020 Oct 7 doi: 10.1101/mcs.a005652. PMID: 33028645Free PMC Article
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.
Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, Sutton VR, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, Lewis RA, Lee BH, Lalani SR, Campeau PM
Cold Spring Harb Mol Case Stud 2017 Mar;3(2):a000984. doi: 10.1101/mcs.a000984. PMID: 28299356Free PMC Article

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